{"id":84177,"date":"2024-11-15T16:03:13","date_gmt":"2024-11-15T07:03:13","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/18q-deletion-syndrome\/"},"modified":"2026-07-12T21:28:39","modified_gmt":"2026-07-12T12:28:39","slug":"18q-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/18q-deletion-syndrome\/?lang=zh-hans","title":{"rendered":"18q\u7f3a\u5931\u7efc\u5408\u75c7"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span 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class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E7%97%87%E7%8A%B6%EF%BD%9C%E5%8F%91%E8%82%B2%E8%BF%9F%E7%BC%93%E3%80%81%E5%90%AC%E5%8A%9B%E9%9A%9C%E7%A2%8D%E3%80%81%E7%99%BD%E8%B4%A8%E5%BD%A2%E6%88%90%E4%B8%8D%E5%85%A8%E7%AD%89\"><\/span>\u4e3b\u8981\u75c7\u72b6\uff5c\u53d1\u80b2\u8fdf\u7f13\u3001\u542c\u529b\u969c\u788d\u3001\u767d\u8d28\u5f62\u6210\u4e0d\u5168\u7b49<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e3b\u8981\u75c7\u72b6\u5305\u62ec\u53d1\u80b2\u8fdf\u7f13\u3001\u667a\u529b\u969c\u788d\u3001\u542c\u529b\u969c\u788d\u3001\u808c\u5f20\u529b\u4f4e\u4e0b\u53ca\u767d\u8d28\u5f62\u6210\u4e0d\u5168\u7b49\uff0c\u5176\u8868\u73b0\u65b9\u5f0f\u548c\u4e25\u91cd\u7a0b\u5ea6\u5b58\u5728\u5f88\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\u3002<\/strong>\u5e76\u975e\u6240\u6709\u75c7\u72b6\u90fd\u4f1a\u540c\u65f6\u51fa\u73b0\u3002\u4ee5\u4e0b\u6574\u7406\u4e86\u5177\u6709\u4ee3\u8868\u6027\u7684\u75c7\u72b6\u3002<\/p>\n\n\n\n<ul 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fill=\"#5a2b3a\">\u4e2a\u4f53\u5dee\u5f02\u8f83\u5927<\/text>\n<\/svg>\n<figcaption>18q\u7f3a\u5931\u7efc\u5408\u5f81\u53ef\u80fd\u51fa\u73b0\u7684\u4e3b\u8981\u75c7\u72b6\u793a\u610f<\/figcaption>\n<\/figure>\n\n\n\n    <a href=\"\/nipt\/3q_13_31\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">3q13.31\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3001\u767a\u9054\u9045\u5ef6\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3059\u3002\u95a2\u9023...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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class=\"wp-block-table\"><table><thead><tr><th>\u68c0\u67e5\u9879\u76ee<\/th><th>\u5b9a\u4f4d<\/th><th>\u5bf918q\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u9002\u7528\u60c5\u51b5<\/th><th>\u8eab\u4f53\u8d1f\u62c5<\/th><\/tr><\/thead><tbody><tr><td>\u57fa\u672cNIPT\uff0813\u300118\u300121\u4e09\u4f53\uff09<\/td><td>\u975e\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u4e0d\u5728\u68c0\u6d4b\u8303\u56f4\u5185\uff08\u4ec5\u9488\u5bf9\u67d3\u8272\u4f53\u6570\u76ee\u5f02\u5e38\uff09<\/td><td>\u4ec5\u9700\u91c7\u8840<\/td><\/tr><tr><td>\u7f8a\u6c34\u7a7f\u523a\uff0b\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\u3001FISH\u6cd5\uff09<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u53ef\u786e\u8ba4\u5177\u4f53\u7f3a\u5931\u8303\u56f4<\/td><td>\u6d41\u4ea7\u98ce\u9669\u7ea60.3%\u5de6\u53f3<\/td><\/tr><tr><td>\u7ed2\u6bdb\u53d6\u6837\uff0b\u67d3\u8272\u4f53\u68c0\u67e5<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u53ef\u5728\u5b55\u65e9\u671f\u786e\u8bca<\/td><td>\u6d41\u4ea7\u98ce\u9669\u7ea61%\u5de6\u53f3<\/td><\/tr><tr><td>\u51fa\u751f\u540e\u8840\u6db2\u68c0\u67e5\uff08\u67d3\u8272\u4f53\u68c0\u67e5\uff09<\/td><td>\u786e\u5b9a\u6027\u68c0\u6d4b<\/td><td>\u51fa\u751f\u540e\u53ef\u786e\u8bca<\/td><td>\u4ec5\u9700\u91c7\u8840<\/td><\/tr><\/tbody><\/table><figcaption>\u4e0e18q\u7f3a\u5931\u7efc\u5408\u5f81\u76f8\u5173\u7684\u68c0\u67e5\u6bd4\u8f83\uff08\u5b9a\u4f4d\u4e0e\u8d1f\u62c5\u6574\u7406\uff09<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"NIPT%E8%83%BD%E5%90%A6%E6%A3%80%E6%B5%8B%E5%87%BA%E8%AF%A5%E7%97%85%EF%BD%9C%E5%9F%BA%E6%9C%AC%E6%A3%80%E6%B5%8B%E4%B8%8D%E6%B6%B5%E7%9B%96%EF%BC%8C%E6%89%A9%E5%B1%95%E6%A3%80%E6%B5%8B%E4%B8%AD%E7%9A%84%E5%AE%9A%E4%BD%8D\"><\/span>NIPT\u80fd\u5426\u68c0\u6d4b\u51fa\u8be5\u75c5\uff5c\u57fa\u672c\u68c0\u6d4b\u4e0d\u6db5\u76d6\uff0c\u6269\u5c55\u68c0\u6d4b\u4e2d\u7684\u5b9a\u4f4d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u7f3a\u5931\u7efc\u5408\u5f81\u4e0d\u5728\u57fa\u672cNIPT\uff0813\u300118\u300121\u4e09\u4f53\uff09\u6216\u57fa\u672c\u768423\u79cd\u5fae\u7f3a\u5931\u68c0\u6d4b\u7684\u8303\u56f4\u5185\uff0c\u4f46\u88ab\u7eb3\u5165\u4e86\u68c0\u6d4b\u8303\u56f4\u66f4\u5e7f\u7684\u6269\u5c55\u68c0\u6d4b\u7684\u5bf9\u8c61\u75be\u75c5\u4e4b\u4e2d\u3002<\/strong>\u5728\u8003\u8651\u68c0\u6d4b\u65b9\u6848\u65f6\uff0c\u4e86\u89e3\u8fd9\u4e00\u5b9a\u4f4d\u4e0a\u7684\u5dee\u5f02\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u4ee5Hiro Clinic NIPT\u4e3a\u4f8b\uff0c\u6d89\u53ca\u667a\u529b\u969c\u788d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/?lang=zh-hans\">23\u79cd\u5fae\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5\u68c0\u6d4b<\/a>\u4e2d\u5e76\u4e0d\u5305\u542b18q\u7f3a\u5931\u7efc\u5408\u5f81\u3002\u800c\u57fa\u4e8e\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-116\/\">116\u79cd\u5fae\u7f3a\u5931\u30fb\u91cd\u590d\u7efc\u5408\u5f81\u68c0\u6d4b<\/a>\uff0c\u5219\u5c0618q\u7f3a\u5931\u7efc\u5408\u5f81\u7eb3\u5165\u4e86\u5bf9\u8c61\u75be\u75c5\u4e4b\u4e00\u3002\u9009\u62e9\u68c0\u6d4b\u9879\u76ee\u65f6\uff0c\u8bf7\u52a1\u5fc5\u786e\u8ba4\u5bf9\u8c61\u75be\u75c5\u6e05\u5355\u3002<\/p>\n\n\n\n<p>\u9700\u8981\u7279\u522b\u6f84\u6e05\u7684\u4e00\u70b9\u662f\uff0c\u5373\u4f7f\u6269\u5c55\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u300c\u9633\u6027\u300d\u6216\u300c\u7591\u4f3c\u9633\u6027\u300d\uff0c\u4e5f\u5e76\u4e0d\u610f\u5473\u7740\u786e\u8bca\u3002<strong>NIPT\u7ec8\u7a76\u53ea\u662f\u4e00\u79cd\u975e\u786e\u5b9a\u6027\u7684\u7b5b\u67e5\u68c0\u6d4b<\/strong>\uff0c\u786e\u8bca\u4ecd\u9700\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\u3001FISH\u6cd5\uff09\u3002\u5b83\u5e76\u975e\u4e00\u79cd\u80fd\u591f\u4fdd\u8bc1\u7edd\u5bf9\u9ad8\u7cbe\u5ea6\u7684\u68c0\u6d4b\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%8E18%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E7%88%B1%E5%BE%B7%E5%8D%8E%E5%85%B9%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E3%80%8118p%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%E7%9A%84%E5%8C%BA%E5%88%AB\"><\/span>\u4e0e18\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09\u300118p\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u533a\u522b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u7f3a\u5931\u7efc\u5408\u5f81\u4e0e18\u53f7\u67d3\u8272\u4f53\u6574\u4f53\u591a\u51fa\u4e00\u6761\u768418\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09\uff0c\u4ee5\u53ca\u77ed\u81c2\uff0818p\uff09\u90e8\u5206\u7f3a\u5931\u768418p\u7f3a\u5931\u7efc\u5408\u5f81\uff0c\u662f\u75c5\u56e0\u548c\u75c7\u72b6\u4e25\u91cd\u7a0b\u5ea6\u5747\u4e0d\u76f8\u540c\u7684\u72ec\u7acb\u75be\u75c5\u3002<\/strong>\u7531\u4e8e\u540d\u79f0\u76f8\u8fd1\uff0c\u5f88\u5bb9\u6613\u88ab\u6df7\u6dc6\uff0c\u9700\u7279\u522b\u7559\u610f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u75c5\u540d<\/th><th>\u67d3\u8272\u4f53\u53d8\u5316<\/th><th>\u7279\u70b9<\/th><\/tr><\/thead><tbody><tr><td>18\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09<\/td><td>18\u53f7\u67d3\u8272\u4f53\u4e3a3\u6761\uff08\u6574\u4f53\u591a\u51fa\u4e00\u6761\uff09<\/td><td>\u5e38\u4f34\u6709\u5fc3\u810f\u3001\u80be\u810f\u7b49\u591a\u5668\u5b98\u7684\u4e25\u91cd\u5e76\u53d1\u75c7<\/td><\/tr><tr><td>18p\u7f3a\u5931\u7efc\u5408\u5f81<\/td><td>18\u53f7\u67d3\u8272\u4f53\u77ed\u81c2\uff08p\uff09\u90e8\u5206\u7f3a\u5931<\/td><td>\u4ee5\u8eab\u6750\u77ee\u5c0f\u3001\u8f7b\u81f3\u4e2d\u5ea6\u667a\u529b\u969c\u788d\u4e3a\u4e3b<\/td><\/tr><tr><td>18q\u7f3a\u5931\u7efc\u5408\u5f81<\/td><td>18\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u90e8\u5206\u7f3a\u5931\uff0818q21\u2192qter\uff09<\/td><td>\u53d1\u80b2\u8fdf\u7f13\u3001\u542c\u529b\u969c\u788d\u3001\u767d\u8d28\u5f62\u6210\u4e0d\u5168\u7b49\u591a\u79cd\u75c7\u72b6<\/td><\/tr><\/tbody><\/table><figcaption>18\u53f7\u67d3\u8272\u4f53\u76f8\u5173\u4ee3\u8868\u6027\u67d3\u8272\u4f53\u75be\u75c5\u7684\u533a\u522b<\/figcaption><\/figure>\n\n\n\n<p>\u5173\u4e8e\u75c7\u72b6\u7684\u8be6\u7ec6\u533a\u522b\uff0c\u4e5f\u8bf7\u53c2\u9605\u6211\u4eec\u5173\u4e8e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/?lang=zh-hans\">18\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09<\/a>\u53ca<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/18p-deletion-syndrome\/?lang=zh-hans\">18p\u7f3a\u5931\u7efc\u5408\u5f81<\/a>\u7684\u8be6\u89e3\u6587\u7ae0\u3002\u786e\u8ba4\u68c0\u6d4b\u7ed3\u679c\u4e2d\u8bb0\u8f7d\u7684\u67d3\u8272\u4f53\u53d8\u5316\u5185\u5bb9\uff08\u662f\u4e09\u4f53\u8fd8\u662f\u7f3a\u5931\u3001\u662f\u957f\u81c2\u8fd8\u662f\u77ed\u81c2\uff09\uff0c\u662f\u6b63\u786e\u7406\u89e3\u75c5\u60c5\u7684\u7b2c\u4e00\u6b65\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%96%97%E4%B8%8E%E9%A2%84%E5%90%8E%EF%BD%9C%E5%AF%B9%E7%97%87%E6%B2%BB%E7%96%97%E4%B8%8E%E9%95%BF%E6%9C%9F%E5%B1%95%E6%9C%9B\"><\/span>\u6cbb\u7597\u4e0e\u9884\u540e\uff5c\u5bf9\u75c7\u6cbb\u7597\u4e0e\u957f\u671f\u5c55\u671b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u76ee\u524d\u5c1a\u65e0\u6839\u6cbb18q\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u65b9\u6cd5\uff0c\u6cbb\u7597\u4ee5\u9488\u5bf9\u5177\u4f53\u75c7\u72b6\u7684\u5bf9\u75c7\u7597\u6cd5\u7ec4\u5408\u4e3a\u4e3b\uff0c\u4ee5\u7ef4\u6301\u751f\u6d3b\u8d28\u91cf\u3002<\/strong>\u901a\u5e38\u9700\u8981\u591a\u4e2a\u4e13\u79d1\u56e2\u961f\u5171\u540c\u534f\u4f5c\u53c2\u4e0e\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u53d1\u80b2\u652f\u6301<\/strong>\uff1a\u901a\u8fc7\u8bed\u8a00\u6cbb\u7597\u3001\u7269\u7406\u6cbb\u7597\u3001\u804c\u4e1a\u6cbb\u7597\u652f\u6301\u53d1\u80b2\u3002<\/li>\n\n\n\n<li>\u5185\u5206\u6ccc\u7ba1\u7406\uff1a\u901a\u8fc7\u751f\u957f\u6fc0\u7d20\u66ff\u4ee3\u7597\u6cd5\u7b49\u624b\u6bb5\u7ba1\u7406\u6fc0\u7d20\u5f02\u5e38\u3002<\/li>\n\n\n\n<li>\u542c\u529b\u652f\u6301\uff1a\u6839\u636e\u5916\u8033\u9053\u72b6\u51b5\uff0c\u63d0\u4f9b\u52a9\u542c\u5668\u53ca\u8033\u9f3b\u5589\u79d1\u5eb7\u590d\u6cbb\u7597\u3002<\/li>\n\n\n\n<li><strong>\u7efc\u5408\u533b\u7597\u7ba1\u7406<\/strong>\uff1a\u513f\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u8033\u9f3b\u5589\u79d1\u3001\u795e\u7ecf\u5185\u79d1\u7b49\u591a\u4e2a\u4e13\u79d1\u534f\u540c\u5408\u4f5c\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/12\/31295073_s.jpg\" alt=\"\u5728\u53d1\u80b2\u652f\u6301\u4e0e\u7597\u80b2\u73b0\u573a\uff0c\u5bb6\u4eba\u643a\u624b\u76f8\u4f34\u7684\u573a\u666f\" class=\"wp-image-86972\"\/><\/figure><\/div>\n\n\n<p>\u9884\u540e\u56e0\u75c7\u72b6\u7a0b\u5ea6\u53ca\u662f\u5426\u63a5\u53d7\u9002\u5f53\u7684\u533b\u7597\u652f\u6301\u800c\u6709\u6240\u4e0d\u540c\u3002\u4f46\u82e5\u80fd\u53ca\u65e9\u786e\u8bca\uff0c\u5e76\u63a5\u53d7\u53d1\u80b2\u652f\u6301\u3001\u5185\u5206\u6ccc\u7ba1\u7406\u7b49\u76f8\u5173\u652f\u6301\uff0c\u5145\u5206\u6709\u53ef\u80fd\u63d0\u5347\u751f\u6d3b\u8d28\u91cf\u3002\u82e5\u4e0d\u4f34\u6709\u5148\u5929\u6027\u5fc3\u810f\u75c5\u6216\u4e25\u91cd\u611f\u67d3\u7b49\u5e76\u53d1\u75c7\uff0c\u5176\u751f\u547d\u9884\u540e\u603b\u4f53\u88ab\u8ba4\u4e3a\u8f83\u4e3a\u826f\u597d\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/17p12-deletion-syndrome-charcot-marie-tooth-disease-type-1a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">17p12 \u6b20\u5931\u75c7\u5019\u7fa4 (\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b) <\/div>\n          <div class=\"blog-card-excerpt\">17p12\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u30b7\u30e3\u30eb\u30b3\u30fc\u30fb\u30de\u30ea\u30fc\u30fb\u30c8\u30a5\u30fc\u30b9\u75c51A\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u7684\u75be\u60a3\u3067\u3059\u3002\u7b4b\u529b\u4f4e\u4e0b\u3084\u611f\u899a\u7570\u5e38\u3001\u8db3\u306e\u5909\u5f62\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u9032\u884c\u6027\u3067\u3059...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BD%9C%E4%B8%BA%E6%8C%87%E5%AE%9A%E9%9A%BE%E7%97%85%E3%80%81%E5%84%BF%E7%AB%A5%E6%85%A2%E6%80%A7%E7%89%B9%E5%AE%9A%E7%96%BE%E7%97%85%E7%9A%84%E5%AE%9A%E4%BD%8D\"><\/span>\u4f5c\u4e3a\u6307\u5b9a\u96be\u75c5\u3001\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u7684\u5b9a\u4f4d<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>18q\u7f3a\u5931\u7efc\u5408\u5f81\u88ab\u5217\u4e3a\u6307\u5b9a\u96be\u75c5139\u300c\u5148\u5929\u6027\u5927\u8111\u767d\u8d28\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u6240\u5305\u542b\u768411\u79cd\u75be\u75c5\u4e4b\u4e00\u3002<\/strong>\u82e5\u60a3\u513f\u7b26\u5408\u6761\u4ef6\uff0c\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u7684\u8865\u52a9\u5236\u5ea6\u4e5f\u662f\u53ef\u9009\u65b9\u6848\u4e4b\u4e00\u3002<\/p>\n\n\n\n<p>\u65e0\u8bba\u662f\u6307\u5b9a\u96be\u75c5\u8fd8\u662f\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u5236\u5ea6\uff0c\u53ea\u8981\u7b26\u5408\u4e00\u5b9a\u7684\u4e25\u91cd\u7a0b\u5ea6\u6807\u51c6\uff0c\u5747\u53ef\u80fd\u6210\u4e3a\u533b\u7597\u8d39\u8865\u52a9\u7684\u5bf9\u8c61\u3002\u8ba4\u5b9a\u4e0e\u5426\u53ca\u5177\u4f53\u624b\u7eed\uff0c\u5efa\u8bae\u901a\u8fc7\u60a8\u6240\u5728\u7684\u5730\u65b9\u81ea\u6cbb\u4f53\u6216\u4e3b\u6cbb\u533b\u751f\u8fdb\u884c\u786e\u8ba4\u3002\u96be\u75c5\u54a8\u8be2\u652f\u63f4\u4e2d\u5fc3\u4e5f\u53ef\u5c31\u5236\u5ea6\u7684\u4f7f\u7528\u65b9\u6cd5\u63d0\u4f9b\u54a8\u8be2\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%88%B6%E6%AF%8D%E7%9A%84%E5%BF%83%E7%90%86%E4%B8%8E%E7%BB%8F%E6%B5%8E%E8%B4%9F%E6%8B%85%E5%8F%8A%E6%94%AF%E6%8C%81%E4%BD%93%E7%B3%BB\"><\/span>\u7236\u6bcd\u7684\u5fc3\u7406\u4e0e\u7ecf\u6d4e\u8d1f\u62c5\u53ca\u652f\u6301\u4f53\u7cfb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7531\u4e8e\u9700\u8981\u957f\u671f\u7684\u7597\u80b2\u4e0e\u533b\u7597\u7ba1\u7406\uff0c\u7236\u6bcd\u5728\u7ecf\u6d4e\u548c\u5fc3\u7406\u4e0a\u90fd\u53ef\u80fd\u627f\u53d7\u8f83\u5927\u7684\u8d1f\u62c5\u3002<\/strong>\u6b63\u56e0\u4e3a\u8fd9\u662f\u4e00\u79cd\u7f55\u89c1\u75be\u75c5\uff0c\u8425\u9020\u4e00\u4e2a\u4e0d\u5b64\u7acb\u65e0\u63f4\u7684\u73af\u5883\u663e\u5f97\u5c24\u4e3a\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u6211\u5728\u4e34\u5e8a\u5de5\u4f5c\u4e2d\u6df1\u5207\u611f\u53d7\u5230\uff0c\u6b63\u56e0\u4e3a\u8fd9\u662f\u4e00\u79cd\u4fe1\u606f\u7a00\u5c11\u7684\u75be\u75c5\uff0c\u5bb6\u5ead\u4e0d\u88ab\u5b64\u7acb\u624d\u663e\u5f97\u5c24\u4e3a\u91cd\u8981\u3002\u4e0e\u6709\u76f8\u540c\u7ecf\u5386\u7684\u5bb6\u5ead\u5efa\u7acb\u8054\u7cfb\uff0c\u5c3d\u65e9\u4e86\u89e3\u5b98\u65b9\u54a8\u8be2\u7a97\u53e3\uff0c\u90fd\u5c06\u6210\u4e3a\u652f\u6491\u6f2b\u957f\u7597\u80b2\u751f\u6d3b\u7684\u529b\u91cf\u3002<\/p>\n\n\n\n<p>\u82e5\u60f3\u67e5\u8be2\u96be\u75c5\u6216\u7f55\u89c1\u75be\u75c5\u7684\u76f8\u5173\u4fe1\u606f\uff0c<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96be\u75c5\u4fe1\u606f\u4e2d\u5fc3<\/a>\u662f\u4e00\u4e2a\u53ef\u9760\u7684\u54a8\u8be2\u7a97\u53e3\u3002\u5173\u4e8e\u53d1\u80b2\u652f\u6301\uff0c<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u788d\u8005\u5eb7\u590d\u4e2d\u5fc3 \u53d1\u80b2\u969c\u788d\u4fe1\u606f\u30fb\u652f\u63f4\u4e2d\u5fc3<\/a>\u6574\u7406\u4e86\u76f8\u5173\u7684\u54a8\u8be2\u6e20\u9053\u4e0e\u652f\u6301\u7406\u5ff5\u3002\u82e5\u5e0c\u671b\u4ece\u4e2d\u7acb\u7acb\u573a\u8fdb\u4e00\u6b65\u4e86\u89e3\u4ea7\u524d\u68c0\u6d4b\u672c\u8eab\uff0c<a href=\"https:\/\/jams-prenatal.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u533b\u5b66\u4f1a \u4ea7\u524d\u68c0\u6d4b\u8ba4\u8bc1\u5236\u5ea6\u7b49\u8fd0\u8425\u59d4\u5458\u4f1a<\/a>\u7684\u4fe1\u606f\u4e5f\u53ef\u4f5c\u4e3a\u53c2\u8003\u3002<\/p>\n\n\n\n<p>\u5728\u8eab\u8fb9\u7684\u652f\u6301\u65b9\u9762\uff0c\u8fd8\u6709\u5730\u533a\u4fdd\u5065\u4e2d\u5fc3\u3001\u513f\u7ae5\u53d1\u80b2\u652f\u63f4\u4e2d\u5fc3\uff0c\u4ee5\u53ca\u6709\u76f8\u540c\u7ecf\u5386\u7684\u5bb6\u5c5e\u4e92\u52a9\u4f1a\u7b49\u8d44\u6e90\u3002\u6b64\u5916\u8fd8\u8bbe\u6709\u4e0e\u533b\u7597\u8d39\u7528\u53ca\u7597\u80b2\u76f8\u5173\u7684\u8865\u52a9\u5236\u5ea6\uff0c\u8bf7\u5411\u6240\u5728\u5e02\u533a\u753a\u6751\u7684\u7a97\u53e3\u54a8\u8be2\u786e\u8ba4\u3002<\/p>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/?lang=zh-hans\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B8%B8%E8%A7%81%E9%97%AE%E9%A2%98\"><\/span>\u5e38\u89c1\u95ee\u9898<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E8%83%BD%E5%90%A6%E6%A3%80%E6%B5%8B%E5%87%BA18q%E7%BC%BA%E5%A4%B1%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%9F\"><\/span><strong>Q. NIPT\u80fd\u5426\u68c0\u6d4b\u51fa18q\u7f3a\u5931\u7efc\u5408\u5f81\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8be5\u75c5\u4e0d\u5728\u57fa\u672cNIPT\uff0813\u300118\u300121\u4e09\u4f53\uff09\u6216\u57fa\u672c\u768423\u79cd\u5fae\u7f3a\u5931\u68c0\u6d4b\u8303\u56f4\u5185\u3002\u57fa\u4e8e\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u7684116\u79cd\u6269\u5c55\u68c0\u6d4b\u5c06\u5176\u7eb3\u5165\u4e86\u5bf9\u8c61\u75be\u75c5\uff0c\u4f46\u7531\u4e8eNIPT\u662f\u975e\u786e\u5b9a\u6027\u7b5b\u67e5\u68c0\u6d4b\uff0c\u5373\u4f7f\u7ed3\u679c\u4e3a\u9633\u6027\uff0c\u4e5f\u4e0d\u80fd\u4ec5\u51ed\u6b64\u786e\u8bca\u3002\u786e\u8bca\u9700\u8981\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u8fdb\u884c\u67d3\u8272\u4f53\u68c0\u67e5\uff08G\u663e\u5e26\u6cd5\u3001FISH\u6cd5\uff09\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E4%B8%8E18%E4%B8%89%E4%BD%93%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%88%E7%88%B1%E5%BE%B7%E5%8D%8E%E5%85%B9%E7%BB%BC%E5%90%88%E5%BE%81%EF%BC%89%E6%98%AF%E5%90%8C%E4%B8%80%E7%A7%8D%E7%96%BE%E7%97%85%E5%90%97%EF%BC%9F\"><\/span><strong>Q. \u4e0e18\u4e09\u4f53\u7efc\u5408\u5f81\uff08\u7231\u5fb7\u534e\u5179\u7efc\u5408\u5f81\uff09\u662f\u540c\u4e00\u79cd\u75be\u75c5\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0d\u662f\uff0c\u4e8c\u8005\u662f\u4e0d\u540c\u7684\u75be\u75c5\u300218\u4e09\u4f53\u7efc\u5408\u5f81\u662f18\u53f7\u67d3\u8272\u4f53\u6574\u4f53\u591a\u51fa\u4e00\u6761\uff0c\u5e38\u4f34\u6709\u591a\u5668\u5b98\u7684\u4e25\u91cd\u5e76\u53d1\u75c7\u300218q\u7f3a\u5931\u7efc\u5408\u5f81\u662f18\u53f7\u67d3\u8272\u4f53\u957f\u81c2\uff08q\uff09\u90e8\u5206\u7f3a\u5931\u6240\u81f4\uff0c\u75c5\u56e0\u4e0e\u75c7\u72b6\u4e25\u91cd\u7a0b\u5ea6\u5747\u4e0d\u76f8\u540c\u3002\u8bf7\u6838\u5bf9\u68c0\u6d4b\u7ed3\u679c\u4e2d\u7684\u5177\u4f53\u8bb0\u8f7d\u5185\u5bb9\u52a0\u4ee5\u533a\u5206\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%AF%8A%E6%96%AD%E6%98%AF%E5%A6%82%E4%BD%95%E7%A1%AE%E5%AE%9A%E7%9A%84%EF%BC%9F\"><\/span><strong>Q. \u8bca\u65ad\u662f\u5982\u4f55\u786e\u5b9a\u7684\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9700\u7efc\u5408\u751f\u957f\u969c\u788d\u3001\u53d1\u80b2\u8fdf\u7f13\u7b49\u4e34\u5e8a\u75c7\u72b6\uff0cMRI\u663e\u793a\u7684\u767d\u8d28\u5f02\u5e38\u8868\u73b0\uff0c\u4ee5\u53ca\u901a\u8fc7G\u663e\u5e26\u67d3\u8272\u4f53\u68c0\u67e5\u548cFISH\u6cd5\u786e\u8ba418q21\u2192qter\u533a\u57df\u7f3a\u5931\uff0c\u4e09\u8005\u7ed3\u5408\u8fdb\u884c\u7efc\u5408\u8bca\u65ad\u3002\u5b55\u671f\u53ef\u901a\u8fc7\u7f8a\u6c34\u7a7f\u523a\u6216\u7ed2\u6bdb\u53d6\u6837\u68c0\u67e5\uff0c\u51fa\u751f\u540e\u5219\u53ef\u901a\u8fc7\u8840\u6db2\u68c0\u67e5\u786e\u8ba4\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%98%AF%E5%90%A6%E8%A2%AB%E8%AE%A4%E5%AE%9A%E4%B8%BA%E6%8C%87%E5%AE%9A%E9%9A%BE%E7%97%85%EF%BC%9F\"><\/span><strong>Q. \u662f\u5426\u88ab\u8ba4\u5b9a\u4e3a\u6307\u5b9a\u96be\u75c5\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>18q\u7f3a\u5931\u7efc\u5408\u5f81\u88ab\u5217\u4e3a\u6307\u5b9a\u96be\u75c5139\u300c\u5148\u5929\u6027\u5927\u8111\u767d\u8d28\u5f62\u6210\u4e0d\u5168\u75c7\u300d\u6240\u5305\u542b\u768411\u79cd\u75be\u75c5\u4e4b\u4e00\u3002\u82e5\u4e3a\u60a3\u513f\uff0c\u4e5f\u53ef\u80fd\u7b26\u5408\u513f\u7ae5\u6162\u6027\u7279\u5b9a\u75be\u75c5\u7684\u8865\u52a9\u5bf9\u8c61\u3002\u7531\u4e8e\u8ba4\u5b9a\u4e0e\u5426\u53d6\u51b3\u4e8e\u4e25\u91cd\u7a0b\u5ea6\u6807\u51c6\uff0c\u8bf7\u5411\u4e3b\u6cbb\u533b\u751f\u6216\u6240\u5728\u81ea\u6cbb\u4f53\u7a97\u53e3\u786e\u8ba4\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%98%AF%E7%88%B6%E6%AF%8D%E5%AD%95%E6%9C%9F%E7%9A%84%E7%94%9F%E6%B4%BB%E6%96%B9%E5%BC%8F%E5%AF%BC%E8%87%B4%E7%9A%84%E5%90%97%EF%BC%9F\"><\/span><strong>Q. \u662f\u7236\u6bcd\u5b55\u671f\u7684\u751f\u6d3b\u65b9\u5f0f\u5bfc\u81f4\u7684\u5417\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e0d\u662f\u3002\u591a\u6570\u75c5\u4f8b\u4e3a\u5076\u53d1\u7684\u65b0\u53d1\u7a81\u53d8\uff08de novo\uff09\u3002\u6781\u5c11\u6570\u60c5\u51b5\u4e0b\uff0c\u7236\u6bcd\u4e00\u65b9\u53ef\u80fd\u643a\u5e26\u5e73\u8861\u6613\u4f4d\uff0c\u4f46\u5373\u4fbf\u5982\u6b64\uff0c\u4e5f\u5e76\u975e\u751f\u6d3b\u4e60\u60ef\u6240\u81f4\u3002\u5982\u6709\u987e\u8651\uff0c\u8bf7\u901a\u8fc7\u9057\u4f20\u54a8\u8be2\u5411\u4e13\u4e1a\u4eba\u58eb\u54a8\u8be2\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%97%87%E7%8A%B6%E4%BC%9A%E6%9C%89%E5%A4%9A%E4%B8%A5%E9%87%8D%EF%BC%9F\"><\/span><strong>Q. \u75c7\u72b6\u4f1a\u6709\u591a\u4e25\u91cd\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u75c7\u72b6\u7684\u4e25\u91cd\u7a0b\u5ea6\u5b58\u5728\u5f88\u5927\u7684\u4e2a\u4f53\u5dee\u5f02\uff0c\u7f3a\u5931\u8303\u56f4\u662f\u5426\u5305\u542bMBP\u57fa\u56e0\u6216TCF4\u57fa\u56e0\uff0c\u4e5f\u4f1a\u5f71\u54cd\u75c7\u72b6\u7684\u5177\u4f53\u8868\u73b0\u3002\u4e0e\u5176\u5957\u7528\u5e73\u5747\u5316\u7684\u5370\u8c61\uff0c\u4e0d\u5982\u4ed4\u7ec6\u89c2\u5bdf\u773c\u524d\u5b69\u5b50\u7684\u5b9e\u9645\u72b6\u51b5\uff0c\u5e76\u636e\u6b64\u6784\u5efa\u6240\u9700\u7684\u652f\u6301\u63aa\u65bd\uff0c\u8fd9\u4e00\u70b9\u66f4\u4e3a\u91cd\u8981\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u4f5c\u8005\u30fb\u76d1\u4fee<\/p>\n<p style=\"margin:0;\">\u5188 \u535a\u53f2\uff0f\u533b\u7597\u6cd5\u4eba\u793e\u56e2\u798f\u7f8e\u4f1a Hiro Clinic\u603b\u9662\u957f\u30fbLabo 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