{"id":121810,"date":"2026-01-07T17:30:46","date_gmt":"2026-01-07T08:30:46","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121810"},"modified":"2026-07-23T05:24:10","modified_gmt":"2026-07-22T20:24:10","slug":"distal-chromosome-18q-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/","title":{"rendered":"18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0818q-\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"585\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/image-87-1024x585.webp\" alt=\"18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0818q-\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066\u89e3\u8aac\u3059\u308b\u8a18\u4e8b\u306e\u30a4\u30e1\u30fc\u30b8\u753b\u50cf\" class=\"wp-image-119778\"\/><\/figure><\/div>\n\n\n<p><strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0818q-\u75c7\u5019\u7fa4\uff09\u306f\u300118\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u672b\u7aef\u5074\uff0818q21\u304b\u3089\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u304b\u3051\u3066\uff09\u304c\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u51fa\u751f4\u4e07\u301c5\u4e075\u5343\u4eba\u306b1\u4eba\u7a0b\u5ea6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u304a\u5b50\u69d8\u304c\u3053\u306e\u8a3a\u65ad\u3092\u53d7\u3051\u305f\u3068\u304d\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u3001\u8a00\u3044\u3088\u3046\u306e\u306a\u3044\u4e0d\u5b89\u3068\u6238\u60d1\u3044\u3092\u611f\u3058\u3089\u308c\u305f\u3053\u3068\u3067\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u8a00\u8449\u306f\u805e\u3044\u305f\u3053\u3068\u304c\u3042\u3063\u3066\u3082\u3001\u300c18\u756a\u306e\u6b20\u5931\u300d\u306b\u3064\u3044\u3066\u306f\u60c5\u5831\u304c\u5c11\u306a\u304f\u3001\u691c\u7d22\u3057\u3066\u3082\u5c02\u9580\u7684\u306a\u8ad6\u6587\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u3001\u4f59\u8a08\u306b\u6df7\u4e71\u3057\u3066\u3057\u307e\u3046\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u67d3\u8272\u4f53\u75be\u60a3\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3082\u306e\u306e\u4e00\u3064\u3067\u3059\u3002\u4e16\u754c\u4e2d\u306b\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u3068\u3054\u5bb6\u65cf\u306e\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\uff08Chromosome 18 Registry &amp; Research Society\u306a\u3069\uff09\u304c\u5b58\u5728\u3057\u3001\u7814\u7a76\u3082\u9032\u3093\u3067\u3044\u307e\u3059\u3002<strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6cbb\u7642<\/strong>\u3084<strong>\u8074\u899a\u7ba1\u7406<\/strong>\u306a\u3069\u3001\u5177\u4f53\u7684\u306a\u5bfe\u5fdc\u7b56\u304c\u591a\u304f\u3042\u308b\u75be\u60a3\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u516c\u7684\u6a5f\u95a2\u306e\u6307\u5b9a\u96e3\u75c5\u60c5\u5831\u3084\u533b\u5b66\u6587\u732e\u3092\u3082\u3068\u306b\u3001\u75c5\u6c17\u306e\u6b63\u4f53\u3001\u4e88\u60f3\u3055\u308c\u308b\u75c7\u72b6\u3001\u516c\u7684\u652f\u63f4\u5236\u5ea6\u3001\u305d\u3057\u3066\u3053\u308c\u304b\u3089\u306e\u751f\u6d3b\u3067\u5927\u5207\u306b\u3057\u3066\u307b\u3057\u3044\u3053\u3068\u3092\u4e01\u5be7\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group is-style-default has-pale-cyan-blue-background-color has-background\"><div 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ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#1_%E8%81%B4%E8%A6%9A%E9%9A%9C%E5%AE%B3%E3%81%A8%E8%80%B3%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\" >1. \u8074\u899a\u969c\u5bb3\u3068\u8033\u306e\u7279\u5fb4\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#2_%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%EF%BC%88%E4%BD%8E%E8%BA%AB%E9%95%B7%EF%BC%89\" >2. \u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#3_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88%E9%AB%84%E9%9E%98%E5%8C%96%E9%81%85%E5%BB%B6%EF%BC%89\" >3. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08\u9ac4\u9798\u5316\u9045\u5ef6\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#4_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\" >4. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#5_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4%EF%BC%88%E8%B6%B3%E3%81%AE%E5%A4%89%E5%BD%A2%EF%BC%89\" >5. \u6574\u5f62\u5916\u79d1\u7684\u306a\u7279\u5fb4\uff08\u8db3\u306e\u5909\u5f62\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#6_%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\" >6. \u9854\u7acb\u3061\u306e\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#7_%E5%BF%83%E8%87%93%E3%81%AE%E7%95%B0%E5%B8%B8\" >7. \u5fc3\u81d3\u306e\u7570\u5e38<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#8_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\" >8. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\" >\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" >1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E5%AE%B6%E6%97%8F%E6%80%A7%EF%BC%89\" >2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u5bb6\u65cf\u6027\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\" >3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u3068\u691c\u67fb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#1_%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88G%E5%88%86%E6%9F%93%E6%B3%95%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%EF%BC%89\" >1. \u67d3\u8272\u4f53\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%EF%BC%88ABR%E3%81%AA%E3%81%A9%EF%BC%89\" >2. \u8074\u899a\u691c\u67fb\uff08ABR\u306a\u3069\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#3_%E9%A0%AD%E9%83%A8MRI%E6%A4%9C%E6%9F%BB\" >3. \u982d\u90e8MRI\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#4_%E5%86%85%E5%88%86%E6%B3%8C%E6%A4%9C%E6%9F%BB%EF%BC%88%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%EF%BC%89\" >4. \u5185\u5206\u6ccc\u691c\u67fb\uff08\u8840\u6db2\u691c\u67fb\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\" >\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#1_%E6%88%90%E9%95%B7%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%EF%BC%88GH%EF%BC%89%E7%99%82%E6%B3%95\" >1. \u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#2_%E8%81%B4%E8%A6%9A%E7%AE%A1%E7%90%86%E3%81%A8%E8%80%B3%E9%BC%BB%E7%A7%91%E3%82%B1%E3%82%A2\" >2. \u8074\u899a\u7ba1\u7406\u3068\u8033\u9f3b\u79d1\u30b1\u30a2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82\" >3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#4_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\" >4. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#5_%E5%BF%83%E8%87%93%E3%83%BB%E5%85%8D%E7%96%AB%E3%83%BB%E5%86%85%E5%88%86%E6%B3%8C%E7%AE%A1%E7%90%86\" >5. \u5fc3\u81d3\u30fb\u514d\u75ab\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%85%AC%E7%9A%84%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%83%BB%E8%B2%BB%E7%94%A8%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u516c\u7684\u652f\u63f4\u5236\u5ea6\u30fb\u8cbb\u7528\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\" >\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\" >\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E8%84%B3%E3%81%AE%E3%80%8C%E9%AB%84%E9%9E%98%E5%8C%96%E9%81%85%E5%BB%B6%E3%80%8D%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u8133\u306e\u300c\u9ac4\u9798\u5316\u9045\u5ef6\u300d\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-36\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#NIPT%E3%81%A718q%E6%9C%AB%E7%AB%AF%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >NIPT\u306718q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-37\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >\u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-38\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%82%84%E7%99%82%E8%82%B2%E3%81%AF%E3%81%A9%E3%81%93%E3%81%AB%E7%9B%B8%E8%AB%87%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >\u5b66\u6821\u751f\u6d3b\u3084\u7642\u80b2\u306f\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-39\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E3%81%BE%E3%81%A8%E3%82%81\" >\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-40\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\" >\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-41\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/distal-chromosome-18q-deletion-syndrome\/#%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\" >\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E8%A8%98%E4%BA%8B%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8B%E3%81%93%E3%81%A8\"><\/span>\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\"><li>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u5909\u5316\u3067\u3001\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/li><li>\u8074\u899a\u30fb\u6210\u9577\u30fb\u767a\u9054\u306a\u3069\u4e3b\u306a\u75c7\u72b6\u3068\u3001\u305d\u306e\u983b\u5ea6\u306e\u76ee\u5b89<\/li><li>\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u56fd\u304c\u5b9a\u3081\u308b\u516c\u5f0f\u306e\u8a3a\u65ad\u57fa\u6e96<\/li><li>\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306a\u3069\u516c\u7684\u652f\u63f4\u5236\u5ea6<\/li><li>\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u9078\u629e\u80a2\u3068\u3001\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u30d2\u30f3\u30c8<\/li><li>\u6b21\u306e\u598a\u5a20\u3084NIPT\u3068\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u3088\u304f\u3042\u308b\u8cea\u554f<\/li><\/ul>\n<\/div><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81%EF%BC%9A%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span><strong>\u6982\u8981\uff1a\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u300146\u672c\u3042\u308b\u67d3\u8272\u4f53\u306e\u3046\u3061\u300c18\u756a\u67d3\u8272\u4f53\u300d\u306e\u9577\u8155\u306e\u672b\u7aef\u90e8\u5206\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>1964\u5e74\u3001\u30d5\u30e9\u30f3\u30b9\u306e\u907a\u4f1d\u5b66\u8005\u30b8\u30e3\u30f3\u30fb\u30c9\u30fb\u30b0\u30eb\u30fc\u30b7\u30fc\u535a\u58eb\u3089\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002\u5f53\u6642\u306f\u5831\u544a\u8005\u306e\u540d\u524d\u3092\u3068\u3063\u3066\u300c\u30c9\u30fb\u30b0\u30eb\u30fc\u30b7\u30fc\u75c7\u5019\u7fa4\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3057\u305f\u3002\u73fe\u5728\u306f\u300c18q-\uff08\u3058\u3085\u3046\u306f\u3061\u30fb\u30ad\u30e5\u30fc\u30fb\u30de\u30a4\u30ca\u30b9\uff09\u75c7\u5019\u7fa4\u300d\u3068\u547c\u3070\u308c\u308b\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\uff08<a href=\"https:\/\/medlineplus.gov\/genetics\/condition\/distal-18q-deletion-syndrome\/\" target=\"_blank\" rel=\"noopener\">\u7c73\u56fd\u56fd\u7acb\u533b\u5b66\u56f3\u66f8\u9928 MedlinePlus Genetics<\/a>\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E3%81%AE%E3%80%8C%E4%BD%8F%E6%89%80%E3%80%8D%E3%82%92%E8%AA%AD%E3%81%BF%E8%A7%A3%E3%81%8F\"><\/span><strong>\u67d3\u8272\u4f53\u306e\u300c\u4f4f\u6240\u300d\u3092\u8aad\u307f\u89e3\u304f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c5\u540d\u306f\u3001\u67d3\u8272\u4f53\u306e\u3069\u3053\u306b\u5909\u5316\u304c\u8d77\u304d\u3066\u3044\u308b\u304b\u3068\u3044\u3046\u300c\u4f4f\u6240\u300d\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Chromosome 18\uff0818\u756a\u67d3\u8272\u4f53\uff09:<\/strong> \u30d2\u30c8\u306e23\u5bfe\u306e\u67d3\u8272\u4f53\u306e\u3046\u3061\u3001\u6bd4\u8f03\u7684\u5c0f\u3055\u306a18\u756a\u76ee\u306e\u67d3\u8272\u4f53\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>q\uff08\u9577\u8155\uff09:<\/strong> \u67d3\u8272\u4f53\u306b\u306f\u304f\u3073\u308c\u304c\u3042\u308a\u3001\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u300218\u756a\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u60c5\u5831\u306e\u591a\u304f\u306f\u3001\u3053\u306e\u9577\u8155\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Distal\uff08\u672b\u7aef\uff09:<\/strong> \u300c\u4e2d\u5fc3\u304b\u3089\u9060\u3044\u300d\u3068\u3044\u3046\u610f\u5473\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u9577\u8155\u306e<strong>18q21\u304b\u3089\u67d3\u8272\u4f53\u306e\u672b\u7aef\uff08qter\uff09<\/strong>\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u3092\u6307\u3057\u307e\u3059\u3002\u5207\u308c\u308b\u4f4d\u7f6e\uff08\u5207\u65ad\u70b9\uff09\u306f\u65b9\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u3001\u6b20\u5931\u3059\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>Deletion\uff08\u6b20\u5931\uff09:<\/strong> \u305d\u306e\u90e8\u5206\u306e\u907a\u4f1d\u60c5\u5831\u304c\u629c\u3051\u843d\u3061\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%80%8C%E8%A8%AD%E8%A8%88%E5%9B%B3%E3%80%8D%E3%81%AE%E6%9C%80%E7%B5%82%E7%AB%A0%E3%81%8C%E3%81%AA%E3%81%84%E7%8A%B6%E6%85%8B\"><\/span><strong>\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u6700\u7d42\u7ae0\u304c\u306a\u3044\u72b6\u614b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u3092\u300c\u516846\u5dfb\u306e\u767e\u79d1\u4e8b\u5178\uff08\u4f53\u306e\u8a2d\u8a08\u56f3\uff09\u300d\u306b\u4f8b\u3048\u308b\u306a\u3089\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306f\u300c\u7b2c18\u5dfb\u306e\u5f8c\u534a\u306e\u30da\u30fc\u30b8\u304c\u7834\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u300d\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5931\u308f\u308c\u305f\u30da\u30fc\u30b8\u306b\u306f\u3001\u8133\u306e\u795e\u7d4c\u3092\u5305\u3080\u819c\u3092\u4f5c\u308b<strong>MBP\u907a\u4f1d\u5b50<\/strong>\uff08\u672b\u7aef\u306b\u8fd1\u304418q23\u306b\u4f4d\u7f6e\uff09\u3084\u3001\u8033\u306e\u7a74\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<strong>TSHZ1\u907a\u4f1d\u5b50<\/strong>\uff0818q22.3\u4ed8\u8fd1\uff09\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3069\u306e\u7bc4\u56f2\u307e\u3067\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u306b\u3088\u3063\u3066\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9B%BD%E5%86%85%E3%81%AE%E6%8C%87%E5%AE%9A%E9%9B%A3%E7%97%85%E3%83%BB%E5%B0%8F%E5%85%90%E6%85%A2%E6%80%A7%E7%89%B9%E5%AE%9A%E7%96%BE%E7%97%85%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91\"><\/span><strong>\u56fd\u5185\u306e\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u3068\u3057\u3066\u306e\u4f4d\u7f6e\u3065\u3051<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u65e5\u672c\u3067\u306f<strong>\u6307\u5b9a\u96e3\u75c5139\u300c\u5148\u5929\u6027\u5927\u8133\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u75c7\u300d<\/strong>\u306b\u542b\u307e\u308c\u308b11\u75be\u60a3\u306e\u4e00\u3064\u3068\u3057\u3066\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\uff08<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4887\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff09\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/11_08_023.html\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u3082\u540c\u3058\u5206\u985e\u306e\u5bfe\u8c61\u75be\u75c5\u3068\u3057\u3066\u63b2\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308a\u3046\u308b\u3068\u3044\u3046\u70b9\u306f\u3001\u5f8c\u8ff0\u306e\u300c\u516c\u7684\u652f\u63f4\u5236\u5ea6\u30fb\u8cbb\u7528\u306b\u3064\u3044\u3066\u300d\u3067\u8a73\u3057\u304f\u3054\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6\"><\/span><strong>\u4e3b\u306a\u75c7\u72b6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u8074\u899a\u30fb\u6210\u9577\u30fb\u795e\u7d4c\u767a\u9054\u306e3\u9818\u57df\u306b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u96c6\u4e2d\u3057\u307e\u3059\u3002<\/strong>\u4ed6\u306e\u67d3\u8272\u4f53\u75be\u60a3\u3068\u306f\u533a\u5225\u3057\u3084\u3059\u3044\u75c7\u72b6\u304c\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059\u3002\u8a3a\u5bdf\u306e\u969b\u3082\u3001\u307e\u305a\u8033\u306e\u72b6\u614b\u3068\u8eab\u9577\u306e\u4f38\u3073\u3092\u78ba\u8a8d\u3059\u308b\u3068\u3053\u308d\u304b\u3089\u59cb\u3081\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3044\u3046\u306e\u304c\u5b9f\u611f\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E8%81%B4%E8%A6%9A%E9%9A%9C%E5%AE%B3%E3%81%A8%E8%80%B3%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88%E9%9D%9E%E5%B8%B8%E3%81%AB%E9%87%8D%E8%A6%81%EF%BC%89\"><\/span><strong>1. \u8074\u899a\u969c\u5bb3\u3068\u8033\u306e\u7279\u5fb4\uff08\u975e\u5e38\u306b\u91cd\u8981\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0460\u301c70%\u306b\u4f55\u3089\u304b\u306e\u96e3\u8074\u304c\u307f\u3089\u308c\u308b\u3001\u6700\u3082\u6ce8\u610f\u3059\u3079\u304d\u7279\u5fb4\u3067\u3059\u3002<strong>TSHZ1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u7bc4\u56f2\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u65b9\u306b\u9650\u308b\u3068\u3001\u5916\u8033\u9053\u306e\u72ed\u7a84\u30fb\u9589\u9396\u304c\u307f\u3089\u308c\u308b\u5272\u5408\u306f\u7d048\u5272\u306b\u4e0a\u308b<\/strong>\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5916\u8033\u9053\u72ed\u7a84\u30fb\u9589\u9396:<br>\u8033\u306e\u7a74\uff08\u5916\u8033\u9053\uff09\u304c\u751f\u307e\u308c\u3064\u304d\u975e\u5e38\u306b\u72ed\u3044\u3001\u3042\u308b\u3044\u306f\u9589\u3058\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4f1d\u97f3\u6027\u96e3\u8074:<br>\u8033\u306e\u7a74\u304c\u72ed\u3044\u305f\u3081\u306b\u97f3\u304c\u9f13\u819c\u306b\u5c4a\u304d\u306b\u304f\u304f\u3001\u805e\u3053\u3048\u304c\u60aa\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u611f\u97f3\u6027\u96e3\u8074:<br>\u795e\u7d4c\u305d\u306e\u3082\u306e\u306e\u767a\u9054\u306e\u554f\u984c\u3067\u805e\u3053\u3048\u306b\u304f\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u8033\u306e\u5f62\u3084\u4f4d\u7f6e\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\u306a\u3069\uff09\u306b\u3082\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u306b\u767a\u898b\u3057\u3001\u88dc\u8074\u5668\u306a\u3069\u3067\u300c\u97f3\u3092\u5165\u308c\u308b\u300d\u3053\u3068\u304c\u3001\u8a00\u8449\u306e\u767a\u9054\u306b\u3068\u3063\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E6%88%90%E9%95%B7%E9%9A%9C%E5%AE%B3%EF%BC%88%E4%BD%8E%E8%BA%AB%E9%95%B7%EF%BC%89\"><\/span><strong>2. \u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7d048\u5272\u306e\u60a3\u8005\u3055\u3093\u3067\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306b\u306a\u308b\u6210\u9577\u969c\u5bb3\u304c\u307f\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168:<br>18q\u6b20\u5931\u306e\u304a\u5b50\u69d8\u306e\u591a\u304f\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u523a\u6fc0\u8a66\u9a13\u3067\u5206\u6ccc\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u3001\u3042\u308b\u3044\u306f\u52b9\u304d\u306b\u304f\u3044\u4f53\u8cea\u3067\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u907a\u4f1d\u5b50\u81ea\u4f53\u306f18\u756a\u67d3\u8272\u4f53\u3067\u306f\u306a\u304f17\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u305f\u3081\u3001\u306a\u305c18q\u306e\u6b20\u5931\u3067\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u304c\u4e0b\u304c\u308b\u306e\u304b\u3001\u305d\u306e\u8a73\u3057\u3044\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u73fe\u6642\u70b9\u3067\u3082\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u300218q\u4e0a\u306e\u5225\u306e\u907a\u4f1d\u5b50\u304c\u3001\u9593\u63a5\u7684\u306b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u8abf\u6574\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\u203b\u9069\u5207\u306a\u6642\u671f\u306b\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u8eab\u9577\u304c\u6539\u5584\u3059\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u8a8d\u77e5\u767a\u9054\u306b\u3082\u826f\u3044\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u7814\u7a76\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%88%E9%AB%84%E9%9E%98%E5%8C%96%E9%81%85%E5%BB%B6%EF%BC%89\"><\/span><strong>3. \u795e\u7d4c\u5b66\u7684\u7279\u5fb4\uff08\u9ac4\u9798\u5316\u9045\u5ef6\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u90e8MRI\u691c\u67fb\u3092\u3059\u308b\u3068\u5206\u304b\u308b\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ac4\u9798\u5316\uff08\u305a\u3044\u3057\u3087\u3046\u304b\uff09\u4e0d\u5168\u30fb\u9045\u5ef6:<br>\u8133\u306e\u795e\u7d4c\u7d30\u80de\u306f\u3001\u96fb\u6c17\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u96fb\u7dda\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3059\u3002\u300c\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\uff09\u300d\u306f\u3001\u305d\u306e\u96fb\u7dda\u3092\u5305\u3080\u300c\u7d76\u7e01\u30c6\u30fc\u30d7\u300d\u306e\u5f79\u5272\u3092\u3057\u3066\u3044\u307e\u3059\u300218q\u306e\u672b\u7aef\u306b\u306f\u3001\u3053\u306e\u30df\u30a8\u30ea\u30f3\u3092\u4f5c\u308b\u305f\u3081\u306eMBP\u907a\u4f1d\u5b50\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u3068\u3001\u7d76\u7e01\u30c6\u30fc\u30d7\u3092\u5dfb\u304f\u4f5c\u696d\u304c\u9045\u308c\u308b\u305f\u3081\u3001\u8133\u306e\u4fe1\u53f7\u4f1d\u9054\u30b9\u30d4\u30fc\u30c9\u304c\u5c11\u3057\u3086\u3063\u304f\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u767a\u9054\u306e\u9045\u308c\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u30cf\u30a4\u30dd\u30c8\u30cb\u30a2\uff09:<br>\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306b\u306a\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E8%83%BD%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>4. \u767a\u9054\u3068\u77e5\u80fd\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede:<br>\u9996\u306e\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u6b69\u884c\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u767a\u9054:<br>\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u6301\u3064\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002\u4e2d\u306b\u306f\u77e5\u7684\u306a\u9045\u308c\u304c\u307b\u3068\u3093\u3069\u306a\u3044\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u306e\u9045\u308c:<br>\u96e3\u8074\u306e\u5f71\u97ff\u3084\u3001\u53e3\u5468\u308a\u306e\u7b4b\u8089\u306e\u5f31\u3055\u3001\u9ac4\u9798\u5316\u9045\u5ef6\u306e\u5f71\u97ff\u3067\u3001\u767a\u8a9e\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\uff08ASD\uff09\u306e\u7279\u6027:<br>\u6d77\u5916\u306e\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u8abf\u67fb\u3067\u306f\u3001\u8a55\u4fa1\u3092\u53d7\u3051\u305f\u65b9\u306e\u3046\u30614\u5272\u524d\u5f8c\u306bASD\u306e\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u305f\u3068\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u767a\u9054\u969c\u5bb3\u5168\u822c\u306e\u691c\u51fa\u3068NIPT\u306e\u95a2\u4fc2\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u3067\u767a\u9054\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306f\u308f\u304b\u308b\uff1f\u691c\u67fb\u306e\u9650\u754c\u3068\u907a\u4f1d\u306e\u771f\u5b9f<\/a>\u3067\u8a73\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4%EF%BC%88%E8%B6%B3%E3%81%AE%E5%A4%89%E5%BD%A2%EF%BC%89\"><\/span><strong>5. \u6574\u5f62\u5916\u79d1\u7684\u306a\u7279\u5fb4\uff08\u8db3\u306e\u5909\u5f62\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u5909\u5f62:<br>\u5185\u53cd\u8db3\uff08\u8db3\u304c\u5185\u5074\u3092\u5411\u3044\u3066\u3044\u308b\uff09\u3001\u5782\u76f4\u8ddd\u9aa8\uff08\u63fa\u308a\u6905\u5b50\u306e\u3088\u3046\u306a\u8db3\u5e95\uff09\u3001\u504f\u5e73\u8db3\u306a\u3069\u3001\u8db3\u306e\u5f62\u306b\u7279\u5fb4\u304c\u51fa\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u6b69\u884c\u306e\u305f\u3081\u306b\u88c5\u5177\u3084\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u624b\u306e\u7279\u5fb4:<br>\u6307\u5148\u304c\u7d30\u304f\u306a\u3063\u3066\u3044\u308b\uff08\u5148\u7d30\u308a\u6307\uff09\u3001\u6307\u306e\u6e26\u5dfb\u304d\u6a21\u69d8\u304c\u591a\u3044\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E9%A1%94%E7%AB%8B%E3%81%A1%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>6. \u9854\u7acb\u3061\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c18q-\u7279\u6709\u306e\u304a\u9854\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210:<\/strong> \u9854\u306e\u771f\u3093\u4e2d\uff08\u9f3b\u306e\u3042\u305f\u308a\uff09\u304c\u5c11\u3057\u5e73\u5766\u3067\u5965\u307e\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u306e\u7279\u5fb4:<\/strong> \u53e3\u304c\u3078\u306e\u5b57\uff08\u9bc9\u72b6\u53e3\uff09\u3067\u3042\u308b\u3001\u53e3\u84cb\u88c2\u304c\u3042\u308b\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u76ee\u306e\u7279\u5fb4:<\/strong> \u773c\u632f\uff08\u76ee\u304c\u63fa\u308c\u308b\uff09\u3001\u659c\u8996\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%BF%83%E8%87%93%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span><strong>7. \u5fc3\u81d3\u306e\u7570\u5e38<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u5fc3\u75be\u60a3\u306f\u7d0425\u301c35%\u306e\u65b9\u306b\u307f\u3089\u308c\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\u8efd\u5ea6\u306a\u3082\u306e\u304b\u3089\u3001\u5916\u79d1\u7684\u6cbb\u7642\u304c\u5fc5\u8981\u306a\u3082\u306e\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u51fa\u751f\u5f8c\u306f\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u30c1\u30a7\u30c3\u30af\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E5%90%88%E4%BD%B5%E7%97%87\"><\/span><strong>8. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3A\uff08IgA\uff09\u6b20\u640d\u75c7:<br>\u514d\u75ab\u7269\u8cea\u306e\u4e00\u3064\u304c\u5c11\u306a\u304f\u3001\u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u304b\u3063\u305f\u308a\u3001\u4e2d\u8033\u708e\u306b\u306a\u308a\u3084\u3059\u304b\u3063\u305f\u308a\u3057\u307e\u3059\u3002\u5831\u544a\u306b\u3088\u308c\u30702\u5272\u524d\u5f8c\u306e\u65b9\u306b\u307f\u3089\u308c\u308b\u3068\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81ea\u5df1\u514d\u75ab\u75be\u60a3:<br>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\uff08\u81ea\u5df1\u514d\u75ab\u6027\u7532\u72b6\u817a\u708e\uff09\u306e\u30ea\u30b9\u30af\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u983b\u5ea6\u3067\u307f\u3089\u308c\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7814\u7a76\u306b\u3088\u3063\u3066\u306f\u5bfe\u8c61\u8005\u306e\u534a\u6570\u7a0b\u5ea6\u306b\u8a8d\u3081\u3089\u308c\u305f\u3068\u3059\u308b\u5831\u544a\u3082\u3042\u308a\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u306b\u3088\u308b\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u884c\u52d5\u9762:<br>\u4e0d\u5b89\u306e\u5f37\u3055\u3084\u6c17\u5206\u306e\u30e0\u30e9\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e0a\u8a18\u306eASD\u306e\u7279\u6027\u3068\u3042\u308f\u305b\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u767a\u9054\u5c02\u9580\u306e\u533b\u7642\u6a5f\u95a2\u306b\u76f8\u8ac7\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%8D%E3%81%9F%E3%81%AE%E3%81%8B\"><\/span><strong>\u539f\u56e0\uff1a\u306a\u305c\u8d77\u304d\u305f\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u90e8\u5206\u306f\u3001\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3001\u3054\u4e21\u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u304c\u300c\u306a\u305c\uff1f\u300d\u3068\u60a9\u307f\u3001\u6642\u306b\u3054\u81ea\u8eab\u3092\u8cac\u3081\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u58f0\u3092\u5927\u306b\u3057\u3066\u304a\u4f1d\u3048\u3057\u305f\u3044\u306e\u306f\u3053\u306e\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>1. \u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306f\u3001\u300cde novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u5831\u544a\u306b\u3088\u308a\u5272\u5408\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u6587\u732e\u3067\u5927\u90e8\u5206\u304cde novo\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u306e\u975e\u5e38\u306b\u65e9\u3044\u6bb5\u968e\u3067\u3001\u5076\u7136\u67d3\u8272\u4f53\u306e\u7aef\u3063\u3053\u304c\u5207\u308c\u3066\u306a\u304f\u306a\u3063\u3066\u3057\u307e\u3063\u305f\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u3001\u81ea\u7136\u306e\u78ba\u7387\u7684\u306a\u73fe\u8c61\u3067\u3042\u308a\u3001\u9632\u3050\u3053\u3068\u306f\u73fe\u4ee3\u306e\u533b\u5b66\u3067\u306f\u4e0d\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%A6%AA%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E8%BB%A2%E5%BA%A7%EF%BC%88%E5%AE%B6%E6%97%8F%E6%80%A7%EF%BC%89\"><\/span><strong>2. \u89aa\u306e\u67d3\u8272\u4f53\u8ee2\u5ea7\uff08\u5bb6\u65cf\u6027\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u30bf\u30a4\u30d7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5747\u8861\u578b\u8ee2\u5ea7:<\/strong> \u67d3\u8272\u4f53\u306e\u5834\u6240\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3060\u3051\u3067\u3001\u907a\u4f1d\u60c5\u5831\u306e\u91cf\u306f\u5909\u308f\u3089\u306a\u3044\u305f\u3081\u3001\u89aa\u5fa1\u3055\u3093\u81ea\u8eab\u306f\u5065\u5eb7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u304a\u5b50\u69d8\u306b\u67d3\u8272\u4f53\u3092\u53d7\u3051\u6e21\u3059\u969b\u306b\u3001\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u300c\u4e0d\u5747\u8861\uff08\u6b20\u5931\uff09\u300d\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u69d8\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%88Haploinsufficiency%EF%BC%89\"><\/span><strong>3. \u30cf\u30d7\u30ed\u4e0d\u5168\uff08Haploinsufficiency\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u901a\u5e38\u3001\u907a\u4f1d\u5b50\u306f2\u3064\u30bb\u30c3\u30c8\u3067\u50cd\u304d\u307e\u3059\u304c\u3001\u7247\u65b9\u304c\u6b20\u5931\u3057\u30661\u3064\u306b\u306a\u308b\u3068\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u8db3\u308a\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MBP\u907a\u4f1d\u5b50\u4e0d\u8db3<\/strong> \u2192 \u9ac4\u9798\u5316\u304c\u9045\u308c\u308b<\/li>\n\n\n\n<li>TSHZ1\u907a\u4f1d\u5b50\u4e0d\u8db3 \u2192 \u8033\u306e\u7a74\u304c\u72ed\u304f\u306a\u308b<br>\u3053\u306e\u3088\u3046\u306b\u3001\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u304c\u76f4\u63a5\u75c7\u72b6\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u308b\u3082\u306e\u304c\u3042\u308b\u4e00\u65b9\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u306e\u3088\u3046\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u307e\u3060\u7279\u5b9a\u3055\u308c\u3066\u3044\u306a\u3044\u75c7\u72b6\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>\u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u901a\u5e38\u3001\u751f\u307e\u308c\u305f\u6642\u306e\u7279\u5fb4\uff08\u8db3\u306e\u5909\u5f62\u3001\u8033\u306e\u7a74\u304c\u72ed\u3044\u306a\u3069\uff09\u3084\u767a\u9054\u306e\u9045\u308c\u304b\u3089\u533b\u5e2b\u304c\u7591\u3044\u3092\u6301\u3061\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u306b\u81f3\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u65e5\u672c\u306e\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066\u306e\u516c\u5f0f\u306a\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u3001\u4ee5\u4e0b\u306e4\u9805\u76ee\u304c\u78ba\u8a8d\u306e\u30dd\u30a4\u30f3\u30c8\u3068\u3055\u308c\u3066\u3044\u307e\u3059\uff08<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4887\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff09\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8<\/th><th>\u5185\u5bb9<\/th><\/tr><\/thead><tbody>\n<tr><td>\u2460\u6210\u9577\u969c\u5bb3<\/td><td>\u7279\u306b\u4f4e\u8eab\u9577\u304c\u307f\u3089\u308c\u308b\u304b<\/td><\/tr>\n<tr><td>\u2461\u767a\u9054<\/td><td>\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u304c\u307f\u3089\u308c\u308b\u304b<\/td><\/tr>\n<tr><td>\u2462\u753b\u50cf\u6240\u898b<\/td><td>\u982d\u90e8MRI\u3067\u5927\u8133\u767d\u8cea\u306b\u75c5\u7684\u306a\u9ad8\u4fe1\u53f7\u6240\u898b\uff08\u9ac4\u9798\u5316\u9045\u5ef6\uff09\u304c\u307f\u3089\u308c\u308b\u304b<\/td><\/tr>\n<tr><td>\u2463\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/td><td>\u67d3\u8272\u4f53\u691c\u67fb\u306718\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u6b20\u5931\u304c\u78ba\u8a8d\u3067\u304d\u308b\u304b<\/td><\/tr>\n<\/tbody><\/table><figcaption>18q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306e\u30dd\u30a4\u30f3\u30c8\uff08\u6307\u5b9a\u96e3\u75c5139\u300c\u5148\u5929\u6027\u5927\u8133\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u306e\u57fa\u6e96\u3092\u8981\u7d04\uff09<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88G%E5%88%86%E6%9F%93%E6%B3%95%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%EF%BC%89\"><\/span><strong>1. \u67d3\u8272\u4f53\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\u30fb\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>G\u5206\u67d3\u6cd5:<\/strong> \u9855\u5fae\u93e1\u3067\u898b\u308b\u57fa\u672c\u7684\u306a\u691c\u67fb\u3067\u3059\u300218q-\u306f\u6bd4\u8f03\u7684\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u67d3\u8272\u4f53\u691c\u67fb (CMA):<\/strong> \u3088\u308a\u7d30\u304b\u304fDNA\u30ec\u30d9\u30eb\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u6b63\u78ba\u306b\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u304c\u6b20\u3051\u3066\u3044\u308b\u304b\u3092\u7279\u5b9a\u3067\u304d\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u306a\u304f\u306a\u3063\u3066\u3044\u308b\u304b\u304c\u308f\u304b\u308b\u305f\u3081\u3001\u75c7\u72b6\u306e\u4e88\u6e2c\u3084\u6cbb\u7642\u65b9\u91dd\u306e\u6c7a\u5b9a\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%81%B4%E8%A6%9A%E6%A4%9C%E6%9F%BB%EF%BC%88ABR%E3%81%AA%E3%81%A9%EF%BC%89\"><\/span><strong>2. \u8074\u899a\u691c\u67fb\uff08ABR\u306a\u3069\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6700\u91cd\u8981\u691c\u67fb\u306e\u4e00\u3064\u3067\u3059\u3002\u8033\u306e\u7a74\u304c\u72ed\u304f\u3066\u9f13\u819c\u304c\u898b\u3048\u306a\u3044\u5834\u5408\u3067\u3082\u3001\u8133\u6ce2\u3092\u4f7f\u3063\u305f\u8074\u529b\u691c\u67fb\uff08ABR\uff09\u306a\u3069\u3067\u3001\u805e\u3053\u3048\u306e\u7a0b\u5ea6\u3092\u6b63\u78ba\u306b\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E9%A0%AD%E9%83%A8MRI%E6%A4%9C%E6%9F%BB\"><\/span><strong>3. \u982d\u90e8MRI\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8133\u306e\u300c\u9ac4\u9798\u5316\u300d\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5e74\u9f62\u306b\u6bd4\u3079\u3066\u767d\u8cea\uff08\u795e\u7d4c\u306e\u901a\u308a\u9053\uff09\u306e\u6620\u308a\u65b9\u304c\u5e7c\u3044\u5834\u5408\u300118q-\u306e\u7279\u5fb4\u3068\u5408\u81f4\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%86%85%E5%88%86%E6%B3%8C%E6%A4%9C%E6%9F%BB%EF%BC%88%E8%A1%80%E6%B6%B2%E6%A4%9C%E6%9F%BB%EF%BC%89\"><\/span><strong>4. \u5185\u5206\u6ccc\u691c\u67fb\uff08\u8840\u6db2\u691c\u67fb\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3084\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u5024\u304c\u6b63\u5e38\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u4f4e\u8eab\u9577\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8ca0\u8377\u8a66\u9a13\u3092\u884c\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b21\u306e\u598a\u5a20\u3067\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3054\u8cea\u554f\u3092\u3044\u305f\u3060\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u3067\u4eca\u56de\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u6b20\u5931\u304c\u308f\u304b\u308b\u304b\u306b\u3064\u3044\u3066\u306f\u3001\u3053\u306e\u8a18\u4e8b\u5f8c\u534a\u306eFAQ\u3067\u3054\u8aac\u660e\u3057\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"428\" src=\"\/nipt\/wp-content\/uploads\/2026\/01\/3542764_s.webp\" alt=\"\u67d3\u8272\u4f53\u691c\u67fb\u3092\u53d7\u3051\u308b\u8d64\u3061\u3083\u3093\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-121583\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E3%81%93%E3%82%8C%E3%81%8B%E3%82%89%E3%81%AE%E3%83%AD%E3%83%BC%E3%83%89%E3%83%9E%E3%83%83%E3%83%97\"><\/span><strong>\u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u3053\u308c\u304b\u3089\u306e\u30ed\u30fc\u30c9\u30de\u30c3\u30d7<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u4ecb\u5165\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5927\u304d\u304f\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u300c\u4ecb\u5165\u3067\u304d\u308b\u30dd\u30a4\u30f3\u30c8\u304c\u591a\u3044\u300d\u75be\u60a3\u3067\u3059\u3002\u9069\u5207\u306a\u6cbb\u7642\u3068\u7642\u80b2\u3067\u3001\u65e5\u3005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3066\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E6%88%90%E9%95%B7%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%EF%BC%88GH%EF%BC%89%E7%99%82%E6%B3%95\"><\/span><strong>1. \u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f4e\u8eab\u9577\u304c\u3042\u308a\u3001\u691c\u67fb\u3067\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u5206\u6ccc\u4e0d\u8db3\u306a\u3069\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u6ce8\u5c04\u306b\u3088\u308b\u6cbb\u7642\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u9577\u3092\u4f38\u3070\u3059\u3060\u3051\u3067\u306a\u304f\u3001\u7b4b\u8089\u91cf\u3092\u5897\u3084\u3057\u305f\u308a\u3001\u6d3b\u52d5\u6027\u3092\u9ad8\u3081\u305f\u308a\u3059\u308b\u52b9\u679c\u3082\u671f\u5f85\u3055\u308c\u307e\u3059\u3002\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u3001\u8a8d\u77e5\u6a5f\u80fd\u3078\u306e\u826f\u3044\u5f71\u97ff\u3082\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%81%B4%E8%A6%9A%E7%AE%A1%E7%90%86%E3%81%A8%E8%80%B3%E9%BC%BB%E7%A7%91%E3%82%B1%E3%82%A2\"><\/span><strong>2. \u8074\u899a\u7ba1\u7406\u3068\u8033\u9f3b\u79d1\u30b1\u30a2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u88dc\u8074\u5668:<\/strong> \u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u65e9\u671f\u304b\u3089\u88dc\u8074\u5668\uff08\u9aa8\u5c0e\u88dc\u8074\u5668\u3084\u8edf\u9aa8\u4f1d\u5c0e\u88dc\u8074\u5668\u306a\u3069\u3001\u8033\u306e\u7a74\u3092\u585e\u304c\u306a\u3044\u30bf\u30a4\u30d7\u3082\u6709\u52b9\uff09\u3092\u4f7f\u7528\u3057\u3001\u97f3\u3068\u8a00\u8449\u3092\u5165\u529b\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e2d\u8033\u708e\u5bfe\u7b56:<\/strong> \u8033\u306e\u7a74\u304c\u72ed\u3044\u305f\u3081\u3001\u4e2d\u8033\u708e\u306b\u306a\u308a\u3084\u3059\u304f\u3001\u6cbb\u308a\u306b\u304f\u3044\u3067\u3059\u3002\u3053\u307e\u3081\u306a\u8033\u9f3b\u79d1\u901a\u9662\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u8033\u9053\u5f62\u6210\u8853:<\/strong> \u6210\u9577\u3057\u3066\u304b\u3089\u3001\u8033\u306e\u7a74\u3092\u5e83\u3052\u308b\u624b\u8853\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E7%9A%84%E6%B2%BB%E7%99%82\"><\/span><strong>3. \u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8db3\u306e\u6cbb\u7642:<\/strong> \u5185\u53cd\u8db3\u3084\u5782\u76f4\u8ddd\u9aa8\u304c\u3042\u308b\u5834\u5408\u3001\u30ae\u30d7\u30b9\u77ef\u6b63\u3084\u88c5\u5177\u3001\u624b\u8853\u3092\u884c\u3063\u3066\u3001\u6b69\u304d\u3084\u3059\u3044\u8db3\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%97%A9%E6%9C%9F%E7%99%82%E8%82%B2%EF%BC%88%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%89\"><\/span><strong>4. \u65e9\u671f\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5 (PT):<\/strong> \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u3057\u3066\u3001\u4f53\u5e79\u3092\u935b\u3048\u3001\u904b\u52d5\u767a\u9054\u3092\u4fc3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5 (ST):<\/strong> \u8a00\u8449\u306e\u9045\u308c\u306b\u5bfe\u3057\u3066\u30a2\u30d7\u30ed\u30fc\u30c1\u3057\u307e\u3059\u3002\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8996\u899a\u60c5\u5831\uff08\u30b5\u30a4\u30f3\u3084\u7d75\u30ab\u30fc\u30c9\uff09\u3082\u4f75\u7528\u3057\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u80b2\u3066\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5 (OT):<\/strong> \u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3092\u6539\u5584\u3057\u3001\u751f\u6d3b\u52d5\u4f5c\u3092\u7df4\u7fd2\u3057\u307e\u3059\u3002\u65e9\u671f\u7642\u80b2\u306e\u8003\u3048\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-early-intervention-brain-science-hope\/\">NIPT\u967d\u6027\u306e\u5e0c\u671b\u3002\u8133\u79d1\u5b66\u3067\u4f38\u3073\u308b\u300c\u65e9\u671f\u7642\u80b2\u300d\u306e\u53ef\u80fd\u6027<\/a>\u3067\u3082\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E5%BF%83%E8%87%93%E3%83%BB%E5%85%8D%E7%96%AB%E3%83%BB%E5%86%85%E5%88%86%E6%B3%8C%E7%AE%A1%E7%90%86\"><\/span><strong>5. \u5fc3\u81d3\u30fb\u514d\u75ab\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u81d3:<\/strong> \u51fa\u751f\u5f8c\u306b\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u7570\u5e38\u304c\u3042\u308c\u3070\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3067\u7d4c\u904e\u89b3\u5bdf\u3084\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u75c7:<\/strong> \u98a8\u90aa\u3092\u3072\u304d\u3084\u3059\u3044\u305f\u3081\u3001\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u3092\u78ba\u5b9f\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a:<\/strong> \u81ea\u5df1\u514d\u75ab\u6027\u7532\u72b6\u817a\u708e\u306e\u30ea\u30b9\u30af\u3092\u8e0f\u307e\u3048\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3067\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%AC%E7%9A%84%E6%94%AF%E6%8F%B4%E5%88%B6%E5%BA%A6%E3%83%BB%E8%B2%BB%E7%94%A8%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span><strong>\u516c\u7684\u652f\u63f4\u5236\u5ea6\u30fb\u8cbb\u7528\u306b\u3064\u3044\u3066<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u75be\u60a3\u306b\u542b\u307e\u308c\u308b\u305f\u3081\u3001\u6761\u4ef6\u3092\u6e80\u305f\u305b\u3070\u533b\u7642\u8cbb\u52a9\u6210\u3092\u53d7\u3051\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6307\u5b9a\u96e3\u75c5\u533b\u7642\u8cbb\u52a9\u6210:<\/strong> \u6307\u5b9a\u96e3\u75c5139\u300c\u5148\u5929\u6027\u5927\u8133\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u306b\u542b\u307e\u308c\u308b11\u75be\u60a3\u306e\u4e00\u3064\u3068\u3057\u3066\u3001\u91cd\u75c7\u5ea6\u5206\u985e\u306a\u3069\u306e\u57fa\u6e96\u3092\u6e80\u305f\u305b\u3070\u3001\u533b\u7642\u8cbb\u306e\u81ea\u5df1\u8ca0\u62c5\u304c\u8efd\u6e1b\u3055\u308c\u308b\u5236\u5ea6\u306e\u5bfe\u8c61\u306b\u306a\u308a\u3048\u307e\u3059\u3002\u7a93\u53e3\u306f\u304a\u4f4f\u307e\u3044\u306e\u90fd\u9053\u5e9c\u770c\u30fb\u6307\u5b9a\u90fd\u5e02\u306e\u62c5\u5f53\u8ab2\u3067\u3059\uff08<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4887\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff09\u3002<\/li>\n\n\n\n<li><strong>\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u533b\u7642\u8cbb\u52a9\u6210:<\/strong> 18\u6b73\u672a\u6e80\uff08\u5f15\u304d\u7d9a\u304d\u6cbb\u7642\u304c\u5fc5\u8981\u3068\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u306f20\u6b73\u672a\u6e80\u307e\u3067\u5ef6\u9577\u53ef\uff09\u306e\u304a\u5b50\u69d8\u304c\u5bfe\u8c61\u3067\u3001\u540c\u3058\u304f\u533b\u7642\u8cbb\u306e\u81ea\u5df1\u8ca0\u62c5\u8efd\u6e1b\u3092\u53d7\u3051\u3089\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff08<a href=\"https:\/\/www.shouman.jp\/disease\/html\/detail\/11_08_023.html\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7642\u80b2\u624b\u5e33\u30fb\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33:<\/strong> <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u96e3\u8074\u306e\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u53d6\u5f97\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\u3084\u7a0e\u5236\u4e0a\u306e\u512a\u9047\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u969c\u5bb3\u798f\u7949\u30b5\u30fc\u30d3\u30b9:<\/strong> \u5150\u7ae5\u767a\u9054\u652f\u63f4\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u306a\u3069\u3001\u65e9\u671f\u7642\u80b2\u306e\u305f\u3081\u306e\u516c\u7684\u30b5\u30fc\u30d3\u30b9\u304c\u3042\u308a\u307e\u3059\u3002\u7533\u8acb\u306e\u76f8\u8ac7\u5148\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-consultation-support-system-planning\/\">NIPT\u967d\u6027\u3001\u8ab0\u306b\u983c\u308b\uff1f\u4eba\u751f\u3092\u5c0e\u304f\u300c\u8a08\u753b\u76f8\u8ac7\u300d\u3068\u652f\u63f4\u306e\u30d7\u30ed<\/a>\u3067\u8a73\u3057\u304f\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u5236\u5ea6\u306e\u8a73\u7d30\u306f\u81ea\u6cbb\u4f53\u3084\u5e74\u5ea6\u306b\u3088\u3063\u3066\u5909\u308f\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u6700\u65b0\u306e\u8981\u4ef6\u306f\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u7a93\u53e3\u3084\u4e0a\u8a18\u306e\u516c\u5f0f\u30b5\u30a4\u30c8\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%97%A5%E3%80%85%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%A7%E3%81%AE%E5%B7%A5%E5%A4%AB\"><\/span><strong>\u65e5\u3005\u306e\u751f\u6d3b\u3067\u306e\u5de5\u592b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8074\u899a\u3078\u306e\u914d\u616e\u3068\u3001\u7126\u3089\u306a\u3044\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7\u306e\u59ff\u52e2\u304c\u3001\u65e5\u3005\u306e\u66ae\u3089\u3057\u3092\u7a4f\u3084\u304b\u306b\u3057\u307e\u3059\u3002<\/strong>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u3068\u306e\u751f\u6d3b\u3067\u3001\u30d2\u30f3\u30c8\u306b\u306a\u308b\u30dd\u30a4\u30f3\u30c8\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u300c\u805e\u3053\u3048\u300d\u3078\u306e\u914d\u616e:<br>\u5f8c\u308d\u304b\u3089\u58f0\u3092\u304b\u3051\u3066\u3082\u6c17\u3065\u304b\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8a71\u3057\u304b\u3051\u308b\u3068\u304d\u306f\u3001\u6b63\u9762\u304b\u3089\u3001\u76ee\u3092\u898b\u3066\u3001\u306f\u3063\u304d\u308a\u3068\u8a71\u3057\u307e\u3057\u3087\u3046\u3002\u96d1\u97f3\u306e\u591a\u3044\u5834\u6240\u3067\u306f\u805e\u304d\u53d6\u308a\u306b\u304f\u3044\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3042\u3052\u3066\u304f\u3060\u3055\u3044\u3002<\/li>\n\n\n\n<li>\u4f53\u6e29\u8abf\u7bc0:<br>\u81ea\u5f8b\u795e\u7d4c\u306e\u8abf\u6574\u304c\u82e6\u624b\u306a\u5834\u5408\u304c\u3042\u308a\u3001\u6691\u3055\u5bd2\u3055\u306b\u5f31\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8863\u670d\u3067\u306e\u8abf\u6574\u306b\u6c17\u3092\u914d\u308a\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u30b9\u30e2\u30fc\u30eb\u30b9\u30c6\u30c3\u30d7:<br>\u9ac4\u9798\u5316\u9045\u5ef6\u304c\u3042\u308b\u305f\u3081\u3001\u65b0\u3057\u3044\u3053\u3068\u3092\u899a\u3048\u308b\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u4fe1\u53f7\u304c\u4f1d\u308f\u308b\u306e\u304c\u3086\u3063\u304f\u308a\u3060\u304b\u3089\u3067\u3059\u3002\u3067\u3082\u3001\u7e70\u308a\u8fd4\u305b\u3070\u5fc5\u305a\u56de\u8def\u306f\u3064\u306a\u304c\u308a\u307e\u3059\u3002\u300c\u3086\u3063\u304f\u308a\u3060\u3051\u3069\u3001\u78ba\u5b9f\u306b\u9032\u3080\u300d\u306e\u304c\u3053\u306e\u5b50\u305f\u3061\u306e\u7279\u5fb4\u3067\u3059\u3002\u7126\u3089\u305a\u898b\u5b88\u308a\u307e\u3057\u3087\u3046\u3002<\/li>\n\n\n\n<li>\u8a18\u9332\u3092\u6b8b\u3059:<br>\u8074\u529b\u30fb\u6210\u9577\u30db\u30eb\u30e2\u30f3\u30fb\u7532\u72b6\u817a\u306e\u691c\u67fb\u7d50\u679c\u306f\u3001\u901a\u9662\u5148\u304c\u5909\u308f\u3063\u3066\u3082\u5f15\u304d\u7d99\u3052\u308b\u3088\u3046\u6bcd\u5b50\u624b\u5e33\u3084\u5c02\u7528\u30ce\u30fc\u30c8\u306b\u8a18\u9332\u3057\u3066\u304a\u304f\u3068\u3001\u6b21\u306e\u53d7\u8a3a\u304c\u30b9\u30e0\u30fc\u30ba\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u6b21\u306e\u598a\u5a20\u3084\u3054\u5bb6\u65cf\u306e\u691c\u67fb\u306b\u3064\u3044\u3066\u3054\u76f8\u8ac7\u3057\u305f\u3044\u65b9\u3078<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">NIPT\u306e\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F%EF%BC%88FAQ%EF%BC%89\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f\uff08FAQ\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5bff\u547d\u30fb\u907a\u4f1d\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u306a\u3069\u3001\u3054\u5bb6\u65cf\u304b\u3089\u7279\u306b\u3088\u304f\u5bc4\u305b\u3089\u308c\u308b\u7591\u554f\u306b\u304a\u7b54\u3048\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BF%E5%91%BD%E3%81%AB%E5%BD%B1%E9%9F%BF%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u5bff\u547d\u306b\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u3092\u5408\u4f75\u3057\u3066\u3044\u306a\u3051\u308c\u3070\u3001\u751f\u547d\u4e88\u5f8c\uff08\u5bff\u547d\uff09\u306f\u826f\u597d\u3067\u3042\u308a\u3001\u5065\u5eb7\u306a\u4eba\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6210\u4eba\u3057\u3066\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u305f\u304f\u3055\u3093\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E3%81%AE%E3%80%8C%E9%AB%84%E9%9E%98%E5%8C%96%E9%81%85%E5%BB%B6%E3%80%8D%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u8133\u306e\u300c\u9ac4\u9798\u5316\u9045\u5ef6\u300d\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u9045\u5ef6\u300d\u3068\u3044\u3046\u540d\u524d\u306e\u901a\u308a\u3001\u5b8c\u5168\u306b\u6b62\u307e\u3063\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u975e\u5e38\u306b\u3086\u3063\u304f\u308a\u3067\u3059\u304c\u5e74\u9f62\u3068\u3068\u3082\u306b\u9032\u884c\uff08\u6539\u5584\uff09\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u5927\u4eba\u306b\u306a\u3063\u3066\u3082\u767a\u9054\u304c\u7d9a\u304f\u3053\u3068\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u5e0c\u671b\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u6b21\u306e\u5b50\u306b\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u89aa\u5fa1\u3055\u3093\u306e\u67d3\u8272\u4f53\u691c\u67fb\u306e\u7d50\u679c\u306b\u3088\u308a\u307e\u3059\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\uff08de novo\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u3001\u6b21\u306e\u304a\u5b50\u69d8\u304c\u540c\u3058\u75c5\u6c17\u306b\u306a\u308b\u78ba\u7387\u306f\u4e00\u822c\u3068\u540c\u3058\u304f\u975e\u5e38\u306b\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u89aa\u5fa1\u3055\u3093\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u78ba\u7387\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E3%81%A718q%E6%9C%AB%E7%AB%AF%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>NIPT\u306718q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3059\u3002\u57fa\u672c\u30c8\u30ea\u30bd\u30df\u30fc\uff0813\u30fb18\u30fb21\u756a\u67d3\u8272\u4f53\uff09\u306b\u52a0\u3048\u3066\u5168\u67d3\u8272\u4f53\u7570\u6570\u6027\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u306b\u5bfe\u5fdc\u3059\u308b\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u3068\u306a\u308b\u9818\u57df\u3084\u691c\u51fa\u3067\u304d\u308b\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u691c\u67fb\u4f1a\u793e\u30fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907143\u7a2e\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u890754\u7a2e\u4ee5\u4e0a\u306b\u5bfe\u5fdc\u3059\u308b\u30d7\u30e9\u30f3\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u308c\u306a\u6b20\u5931\u306f\u53d7\u691c\u524d\u306b\u30d7\u30e9\u30f3\u306e\u5bfe\u8c61\u7bc4\u56f2\u3092\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u3084\u3001\u6b21\u306e\u598a\u5a20\u3067\u3054\u5fc3\u914d\u306a\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u3068\u3042\u308f\u305b\u3066\u3001\u5c02\u9580\u533b\u306b\u3088\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u3054\u691c\u8a0e\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8C%BB%E7%99%82%E8%B2%BB%E3%81%AE%E5%8A%A9%E6%88%90%E3%81%AF%E5%8F%97%E3%81%91%E3%82%89%E3%82%8C%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u533b\u7642\u8cbb\u306e\u52a9\u6210\u306f\u53d7\u3051\u3089\u308c\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u6307\u5b9a\u96e3\u75c5139\u300c\u5148\u5929\u6027\u5927\u8133\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u306b\u542b\u307e\u308c\u308b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3001\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u5bfe\u8c61\u306b\u3082\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u91cd\u75c7\u5ea6\u5206\u985e\u306a\u3069\u4e00\u5b9a\u306e\u57fa\u6e96\u3092\u6e80\u305f\u305b\u3070\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\uff08\u4fdd\u5065\u6240\u30fb\u96e3\u75c5\u76f8\u8ac7\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u306a\u3069\uff09\u306b\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%A6%E6%A0%A1%E7%94%9F%E6%B4%BB%E3%82%84%E7%99%82%E8%82%B2%E3%81%AF%E3%81%A9%E3%81%93%E3%81%AB%E7%9B%B8%E8%AB%87%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>\u5b66\u6821\u751f\u6d3b\u3084\u7642\u80b2\u306f\u3069\u3053\u306b\u76f8\u8ac7\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\uff08\u969c\u5bb3\u798f\u7949\u8ab2\u306a\u3069\uff09\u3067\u3001\u5150\u7ae5\u767a\u9054\u652f\u63f4\u3084\u653e\u8ab2\u5f8c\u7b49\u30c7\u30a4\u30b5\u30fc\u30d3\u30b9\u306e\u5229\u7528\u3001\u53d7\u7d66\u8005\u8a3c\u306e\u53d6\u5f97\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3067\u304d\u307e\u3059\u3002\u5c31\u5b66\u306b\u95a2\u3057\u3066\u306f\u3001\u6559\u80b2\u59d4\u54e1\u4f1a\u306e\u5c31\u5b66\u76f8\u8ac7\u7a93\u53e3\u3067\u3001\u901a\u5e38\u5b66\u7d1a\u30fb\u652f\u63f4\u5b66\u7d1a\u30fb\u652f\u63f4\u5b66\u6821\u306a\u3069\u3001\u304a\u5b50\u69d8\u306b\u5408\u3063\u305f\u9078\u629e\u80a2\u3092\u4e00\u7dd2\u306b\u691c\u8a0e\u3057\u3066\u3082\u3089\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BE%E3%81%A8%E3%82%81\"><\/span><strong>\u307e\u3068\u3081<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3053\u307e\u3067\u306e\u91cd\u8981\u30dd\u30a4\u30f3\u30c8\u3092\u632f\u308a\u8fd4\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>18q\u672b\u7aef\u6b20\u5931\u75c7\u5019\u7fa4\uff0818q-\uff09\u306f\u300118\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\u306e\u6b20\u5931\u306b\u3088\u308b\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3001\u51fa\u751f4\u4e07\u301c5\u4e075\u5343\u4eba\u306b1\u4eba\u7a0b\u5ea6\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e3b\u306a\u75c7\u72b6<\/strong>\u306f\u3001\u5916\u8033\u9053\u72ed\u7a84\u306b\u3088\u308b\u96e3\u8074\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u4e0d\u8db3\u306b\u3088\u308b\u4f4e\u8eab\u9577\u3001\u8133\u306e\u9ac4\u9798\u5316\u9045\u5ef6\u3001\u5fc3\u75be\u60a3\u306a\u3069\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u539f\u56e0<\/strong>\u306e\u5927\u90e8\u5206\u306f\u7a81\u7136\u5909\u7570\u3067\u3042\u308a\u3001\u89aa\u306e\u8cac\u4efb\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u8a3a\u65ad<\/strong>\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u304c\u6709\u52b9\u3067\u3001\u8074\u899a\u691c\u67fb\u3084MRI\u3082\u91cd\u8981\u3067\u3059\u3002\u6307\u5b9a\u96e3\u75c5\u306e\u516c\u5f0f\u306a\u8a3a\u65ad\u57fa\u6e96\u3082\u5b9a\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6cbb\u7642<\/strong>\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u3001\u88dc\u8074\u5668\u3001\u8db3\u306e\u6cbb\u7642\u3001\u305d\u3057\u3066\u65e9\u671f\u7642\u80b2\u304c\u30ab\u30ae\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u516c\u7684\u652f\u63f4<\/strong>\u3068\u3057\u3066\u3001\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u3084\u969c\u5bb3\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3092\u5229\u7528\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8\"><\/span><strong>\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u3044\u305f\u76f4\u5f8c\u3001\u3054\u5bb6\u65cf\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u300d\u3068\u3044\u3046\u8a00\u8449\u306e\u91cd\u307f\u306b\u3001\u5c06\u6765\u3078\u306e\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u300c\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308b\u306e\u304b\u306a\u300d\u300c\u304a\u8a71\u3067\u304d\u308b\u306e\u304b\u306a\u300d\u3068\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u300118q-\u75c7\u5019\u7fa4\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u3001\u7d20\u6674\u3089\u3057\u3044\u53ef\u80fd\u6027\u3092\u79d8\u3081\u3066\u3044\u307e\u3059\u3002\u8133\u306e\u4f1d\u9054\u30b9\u30d4\u30fc\u30c9\u306f\u3086\u3063\u304f\u308a\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5f7c\u3089\u306f\u6642\u9593\u3092\u304b\u3051\u3066\u78ba\u5b9f\u306b\u5b66\u3073\u3001\u6210\u9577\u3057\u7d9a\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5916\u6765\u3067\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u3054\u5bb6\u65cf\u3068\u304a\u8a71\u3057\u3059\u308b\u3068\u3001\u8a3a\u65ad\u76f4\u5f8c\u306f\u7686\u3055\u3093\u4e00\u69d8\u306b\u5f37\u3044\u4e0d\u5b89\u3092\u53e3\u306b\u3055\u308c\u307e\u3059\u3002\u305d\u308c\u3067\u3082\u6570\u304b\u6708\u5f8c\u3001\u88dc\u8074\u5668\u3067\u97f3\u306e\u4e16\u754c\u3092\u697d\u3057\u3093\u3060\u308a\u3001\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3067\u80cc\u304c\u4f38\u3073\u3066\u81ea\u4fe1\u3092\u6301\u3063\u305f\u308a\u3059\u308b\u304a\u5b50\u69d8\u306e\u5909\u5316\u3092\u3001\u3046\u308c\u3057\u305d\u3046\u306b\u5831\u544a\u3057\u3066\u304f\u3060\u3055\u308b\u65b9\u304c\u591a\u3044\u3068\u3044\u3046\u5370\u8c61\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u5b50\u304c\u591a\u304f\u3001\u5468\u56f2\u306e\u4eba\u3092\u7b11\u9854\u306b\u3059\u308b\u529b\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u533b\u7642\u306e\u30b5\u30dd\u30fc\u30c8\u3067\u304a\u5b50\u69d8\u306e\u53ef\u80fd\u6027\u306f\u5927\u304d\u304f\u5e83\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u4eba\u3067\u62b1\u3048\u8fbc\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u4e16\u754c\u306b\u306f\u300c<a href=\"https:\/\/www.chromosome18.org\/18q\/distal-18q\/\" target=\"_blank\" rel=\"noopener\">Chromosome 18 Registry &amp; Research Society<\/a>\u300d\u3068\u3044\u3046\u5927\u304d\u306a\u5bb6\u65cf\u4f1a\u30fb\u7814\u7a76\u7d44\u7e54\u304c\u3042\u308a\u3001\u65e5\u672c\u306b\u3082\u652f\u90e8\u3084\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u304c\u3042\u308a\u307e\u3059\u3002\u533b\u5e2b\u3001\u770b\u8b77\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u305d\u3057\u3066\u540c\u3058\u7d4c\u9a13\u3092\u6301\u3064\u5bb6\u65cf\u305f\u3061\u3002\u3042\u306a\u305f\u306e\u5468\u308a\u306b\u306f\u3001\u5473\u65b9\u306b\u306a\u3063\u3066\u304f\u308c\u308b\u4eba\u304c\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7126\u3089\u305a\u3001\u4e00\u65e5\u4e00\u65e5\u3092\u5927\u5207\u306b\u3002\u304a\u5b50\u69d8\u306e\u5c0f\u3055\u306a\u300c\u3067\u304d\u305f\uff01\u300d\u3092\u4e00\u7dd2\u306b\u559c\u3073\u5408\u3048\u308b\u65e5\u3005\u304c\u3001\u3053\u308c\u304b\u3089\u306e\u672a\u6765\u306b\u305f\u304f\u3055\u3093\u5f85\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A1%E3%81%AE%E3%82%A2%E3%82%AF%E3%82%B7%E3%83%A7%E3%83%B3%EF%BC%9A%E3%81%BE%E3%81%9A%E7%A2%BA%E8%AA%8D%E3%81%97%E3%81%9F%E3%81%84%E3%81%93%E3%81%A8\"><\/span><strong>\u6b21\u306e\u30a2\u30af\u30b7\u30e7\u30f3\uff1a\u307e\u305a\u78ba\u8a8d\u3057\u305f\u3044\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3092\u8aad\u3093\u3060\u5f8c\u3001\u4e3b\u6cbb\u533b\u3084\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u306b\u78ba\u8a8d\u3059\u308b\u3068\u826f\u3044\u5177\u4f53\u7684\u306a\u30dd\u30a4\u30f3\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u300c\u8074\u899a\u300d\u306e\u30c1\u30a7\u30c3\u30af:<br>ABR\uff08\u8074\u6027\u8133\u5e79\u53cd\u5fdc\uff09\u306a\u3069\u306e\u8a73\u3057\u3044\u8074\u529b\u691c\u67fb\u306f\u6e08\u3093\u3067\u3044\u307e\u3059\u304b\uff1f\u88dc\u8074\u5668\u306e\u9069\u5fdc\u306f\u3042\u308a\u307e\u3059\u304b\uff1f<\/li>\n\n\n\n<li>\u300c\u30db\u30eb\u30e2\u30f3\u30fb\u5fc3\u81d3\u300d\u306e\u30c1\u30a7\u30c3\u30af:<br>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3084\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u5024\u306f\u6b63\u5e38\u3067\u3057\u305f\u304b\uff1f\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u306f\u53d7\u3051\u307e\u3057\u305f\u304b\uff1f<\/li>\n\n\n\n<li>\u300c\u516c\u7684\u652f\u63f4\u300d\u306e\u78ba\u8a8d:<br>\u6307\u5b9a\u96e3\u75c5\u30fb\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u3001\u7642\u80b2\u624b\u5e33\u306e\u5bfe\u8c61\u306b\u306a\u308b\u304b\u3001\u81ea\u6cbb\u4f53\u306e\u7a93\u53e3\u3067\u78ba\u8a8d\u3057\u307e\u3057\u3087\u3046\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u7642\u80b2\u306e\u958b\u59cb:<br>\u304a\u4f4f\u307e\u3044\u306e\u81ea\u6cbb\u4f53\u306e\u798f\u7949\u7a93\u53e3\uff08\u969c\u5bb3\u798f\u7949\u8ab2\u306a\u3069\uff09\u3067\u3001\u65e9\u671f\u7642\u80b2\uff08\u5150\u7ae5\u767a\u9054\u652f\u63f4\uff09\u3092\u53d7\u3051\u308b\u305f\u3081\u306e\u624b\u7d9a\u304d\u3084\u3001\u300c\u53d7\u7d66\u8005\u8a3c\u300d\u306e\u53d6\u5f97\u306b\u3064\u3044\u3066\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n<div class=\"cta-box\" style=\"text-align:center;margin:2em 0;padding:1.2em;background:#fff5f7;border-radius:12px;\">\n<p style=\"font-weight:bold;margin-bottom:0.8em;\">\u25bc \u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u3054\u76f8\u8ac7\u306f\u3053\u3061\u3089<\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">NIPT\u3092\u4e88\u7d04\u3059\u308b<\/a><\/p>\n<p style=\"margin:0.4em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.7em 1.6em;background:#06c755;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/p>\n<\/div>\n\n<hr\/>\n<p style=\"font-size:0.9em;color:#555;\"><strong>\u76e3\u4fee\uff1a\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong>\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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