{"id":102816,"date":"2025-07-01T14:02:57","date_gmt":"2025-07-01T05:02:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102816"},"modified":"2026-03-04T10:56:37","modified_gmt":"2026-03-04T01:56:37","slug":"smith-lemli-opitz-dhcr7-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/","title":{"rendered":"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\u3010DHCR7\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E2%91%A0_%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E5%95%8F%E9%A1%8C\" >\u2460 \u6210\u9577\u3068\u767a\u9054\u306e\u554f\u984c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E2%91%A1_%E7%A5%9E%E7%B5%8C%E3%82%84%E8%A1%8C%E5%8B%95%E3%81%AE%E5%95%8F%E9%A1%8C\" >\u2461 \u795e\u7d4c\u3084\u884c\u52d5\u306e\u554f\u984c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-10\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E2%91%A8_%E8%80%B3%E3%81%AE%E7%97%87%E7%8A%B6\" >\u2468 \u8033\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E2%91%A9_%E5%85%8D%E7%96%AB%E3%83%BB%E7%9A%AE%E8%86%9A%E3%81%AE%E5%95%8F%E9%A1%8C\" >\u2469 \u514d\u75ab\u30fb\u76ae\u819a\u306e\u554f\u984c<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88Biochemical_Testing%EF%BC%89\" >\u751f\u5316\u5b66\u7684\u691c\u67fb\uff08Biochemical Testing\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88Molecular_Testing%EF%BC%89\" >\u907a\u4f1d\u5b50\u691c\u67fb\uff08Molecular Testing\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%87%A8%E5%BA%8A%E8%A9%95%E4%BE%A1%EF%BC%88Imaging_and_Clinical_Evaluation%EF%BC%89\" >\u753b\u50cf\u691c\u67fb\u30fb\u81e8\u5e8a\u8a55\u4fa1\uff08Imaging and Clinical Evaluation\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%88Differential_Diagnosis%EF%BC%89\" >\u9451\u5225\u8a3a\u65ad\uff08Differential Diagnosis\uff09<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#1_%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E8%A3%9C%E5%85%85%E7%99%82%E6%B3%95%EF%BC%88Cholesterol_Supplementation%EF%BC%89\" >1. \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145\u7642\u6cd5\uff08Cholesterol Supplementation\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#2_%E3%82%B9%E3%82%BF%E3%83%81%E3%83%B3%E7%99%82%E6%B3%95%EF%BC%88Statin_Therapy%EF%BC%9A%E6%85%8E%E9%87%8D%E3%81%AB%E4%BD%BF%E7%94%A8%EF%BC%89\" >2. \u30b9\u30bf\u30c1\u30f3\u7642\u6cd5\uff08Statin Therapy\uff1a\u614e\u91cd\u306b\u4f7f\u7528\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#3_%E6%A0%84%E9%A4%8A%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%EF%BC%88Nutritional_Support%EF%BC%89\" >3. \u6804\u990a\u30b5\u30dd\u30fc\u30c8\uff08Nutritional Support\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#4_%E5%86%85%E5%88%86%E6%B3%8C%E3%81%A8%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Endocrine_and_Hormonal_Care%EF%BC%89\" >4. \u5185\u5206\u6ccc\u3068\u30db\u30eb\u30e2\u30f3\u306e\u30b1\u30a2\uff08Endocrine and Hormonal Care\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#5_%E8%81%B4%E8%A6%9A%E3%81%A8%E8%A6%96%E8%A6%9A%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Hearing_and_Vision_Care%EF%BC%89\" >5. \u8074\u899a\u3068\u8996\u899a\u306e\u30b1\u30a2\uff08Hearing and Vision Care\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#6_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Developmental_and_Behavioral_Support%EF%BC%89\" >6. \u767a\u9054\u652f\u63f4\u3068\u884c\u52d5\u9762\u306e\u30b1\u30a2\uff08Developmental and Behavioral Support\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#7_%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%8A%E3%82%88%E3%81%B3%E5%86%85%E7%A7%91%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%EF%BC%88Surgical_and_Medical_Management_of_Malformations%EF%BC%89\" >7. \u5916\u79d1\u7684\u304a\u3088\u3073\u5185\u79d1\u7684\u306a\u6cbb\u7642\uff08Surgical and Medical Management of Malformations\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#8_%E5%AE%9A%E6%9C%9F%E7%9A%84%E3%81%AA%E7%B5%8C%E9%81%8E%E8%A6%B3%E5%AF%9F%E3%81%A8%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%EF%BC%88Monitoring_and_Surveillance%EF%BC%89\" >8. \u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\uff08Monitoring and Surveillance\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#9_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%A8%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4%EF%BC%88Genetic_Counseling_and_Family_Planning%EF%BC%89\" >9. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5bb6\u65cf\u652f\u63f4\uff08Genetic Counseling and Family Planning\uff09<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%9A\" >\u91cd\u75c7\u578b\uff1a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-35\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E4%B8%AD%E7%AD%89%E5%BA%A6%EF%BC%9A\" >\u4e2d\u7b49\u5ea6\uff1a<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-36\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%9A\" >\u8efd\u75c7\u578b\uff1a<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-37\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-38\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/smith-lemli-opitz-dhcr7-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/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\/smith-lemli-opitz-dhcr7-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\n    \u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Smith-Lemli-Opitz Syndrome\uff1aSLOS\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u5408\u6210\u306b\u95a2\u308f\u308b\u9175\u7d20\u306b\u554f\u984c\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001<strong>DHCR7\u907a\u4f1d\u5b50<\/strong>\u306b\u5909\u5316\u304c\u3042\u308b\u3053\u3068\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3084\u3001\u4f53\u306e\u304b\u305f\u3061\u306e\u7279\u5fb4\u3001\u5185\u81d3\u3084\u611f\u899a\u5668\u306e\u7570\u5e38\u306a\u3069\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001SLOS\u306e\u539f\u56e0\u3084\u907a\u4f1d\u7684\u306a\u4ed5\u7d44\u307f\u3001\u3088\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3001\u691c\u67fb\u3084\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u305d\u3057\u3066\u65e5\u3005\u306e\u30b1\u30a2\u3084\u6cbb\u7642\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u304f\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002\u304a\u5b50\u3055\u307e\u306e\u6210\u9577\u3084\u767a\u9054\u306b\u95a2\u3057\u3066\u6c17\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u65b9\u3084\u3001\u3059\u3067\u306b\u8a3a\u65ad\u3092\u53d7\u3051\u3066\u3044\u308b\u3054\u5bb6\u65cf\u306e\u65b9\u306b\u3068\u3063\u3066\u3001\u5b89\u5fc3\u3057\u3066\u304a\u8aad\u307f\u3044\u305f\u3060\u3051\u308b\u5185\u5bb9\u3067\u3059\u3002\n  <\/p>\n  <p>\n    \u307e\u305f\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\uff08\u4e88\u5f8c\uff09\u3084\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8fce\u3048\u308b\u969b\u306e\u3054\u76f8\u8ac7\uff08\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\uff09\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3066\u304a\u308a\u307e\u3059\u3002\u4e0d\u5b89\u3092\u62b1\u3048\u308b\u4fdd\u8b77\u8005\u306e\u7686\u3055\u307e\u304c\u3001\u6b63\u3057\u3044\u60c5\u5831\u3068\u3068\u3082\u306b\u304a\u5b50\u3055\u307e\u3092\u652f\u3048\u3066\u3044\u3051\u308b\u3088\u3046\u3001\u4fe1\u983c\u3067\u304d\u308b\u533b\u5b66\u7684\u77e5\u898b\u306b\u57fa\u3065\u3044\u3066\u304a\u5c4a\u3051\u3057\u3066\u3044\u307e\u3059\u3002\n  <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>DHCR7<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/DHCR7-hgtIdeo_genome_asia_e0cb5_34d180-1024x26.png\" alt=\"DHCR7\" class=\"wp-image-102817\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Smith-Lemli-Opitz Syndrome\uff1aSLOS\uff09\u306f\u3001DHCR7\u907a\u4f1d\u5b50\uff08\u82f1\u8a9e\u540d\uff1a7-dehydrocholesterol reductase gene\u3001\u65e5\u672c\u8a9e\u540d\uff1a7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u9084\u5143\u9175\u7d20\u907a\u4f1d\u5b50\uff09\u306b\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u75c5\u7684\u306a\u5909\u7570\uff08\u3078\u3093\u3044\uff09\u3092\u53d7\u3051\u7d99\u3044\u3060\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u308c\u3063\u305b\u3044\uff09\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eDHCR7\u907a\u4f1d\u5b50\u306f\u3001\u7b2c11\u67d3\u8272\u4f53\u306eq13.4\u9818\u57df\u306b\u5b58\u5728\u3057\u3001\u4f53\u5185\u3067\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u4f5c\u308b\u305f\u3081\u306e\u300cKandutsch\u2013Russell\u7d4c\u8def\u300d\u3068\u547c\u3070\u308c\u308b\u751f\u5408\u6210\u7d4c\u8def\u306e\u6700\u7d42\u30b9\u30c6\u30c3\u30d7\u3092\u62c5\u3046\u91cd\u8981\u306a\u9175\u7d20\u3067\u3042\u308b7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u9084\u5143\u9175\u7d20\uff087-dehydrocholesterol reductase\uff09\u3092\u4f5c\u308b\u305f\u3081\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306f\u3001\u4f53\u306e\u4e2d\u3067\u7279\u306b\u526f\u814e\uff08\u3075\u304f\u3058\u3093\uff09\u30fb\u809d\u81d3\u30fb\u7cbe\u5de3\u30fb\u8133\u306a\u3069\u3067\u591a\u304f\u767a\u73fe\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u306e\u4e2d\u306e\u300c\u5c0f\u80de\u4f53\uff08\u3057\u3087\u3046\u307b\u3046\u305f\u3044\u3001endoplasmic reticulum\uff09\u300d\u3068\u3044\u3046\u5834\u6240\u306b\u57cb\u3081\u8fbc\u307e\u308c\u305f\u304b\u305f\u3061\u3067\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306e\u50cd\u304d\u304c\u4e0d\u5341\u5206\u306a\u5834\u5408\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u6b63\u5e38\u306b\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u3001\u305d\u306e\u524d\u6bb5\u968e\u306e\u7269\u8cea\u3067\u3042\u308b7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff087-DHC\uff09\u304c\u4f53\u5185\u306b\u7570\u5e38\u306b\u84c4\u7a4d\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u80ce\u5150\u306e\u767a\u9054\u3084\u8eab\u4f53\u306e\u3055\u307e\u3056\u307e\u306a\u6a5f\u80fd\u306b\u652f\u969c\u3092\u304d\u305f\u3059\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u6b63\u5f0f\u306b\u306f\u300c\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Smith-Lemli-Opitz Syndrome: SLOS\uff09\u300d\u3068\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ed6\u306b\u3082\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5225\u540d\u304c\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u9084\u5143\u9175\u7d20\u6b20\u640d\u75c7\uff087-dehydrocholesterol reductase deficiency\uff09<\/li>\n\n\n\n<li>RSH\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>Rutledge\u81f4\u6b7b\u6027\u591a\u767a\u5947\u5f62\u75c7\u5019\u7fa4\uff08lethal multiple congenital anomaly syndrome\uff09<\/li>\n\n\n\n<li>\u81f4\u6b7b\u6027\u56db\u80a2\u751f\u6b96\u5668\u7570\u5f62\u6210\u75c7\u5019\u7fa4\uff08lethal acrodysgenital syndrome\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u306b\u95a2\u308f\u308b\u7570\u5e38\u304c\u6839\u672c\u306b\u3042\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08SLOS\uff09\u306f\u3001\u751f\u307e\u308c\u3064\u304d\uff08\u5148\u5929\u7684\uff09\u3067\u8d77\u3053\u308b\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u3064\u304f\u308b\u305f\u3081\u306e\u9175\u7d20\uff087-dehydrocholesterol reductase\uff09\u306e\u50cd\u304d\u304c\u4e0d\u5341\u5206\u3067\u3042\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u305f\u3081\u306b\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u91cf\u304c\u5c11\u306a\u304f\u306a\u308a\u3001<\/li>\n\n\n\n<li>\u305d\u306e\u524d\u6bb5\u968e\u3067\u3042\u308b7-DHC\uff087-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u306a\u3069\u304c\u7570\u5e38\u306b\u591a\u304f\u4f53\u5185\u306b\u305f\u307e\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u3001\u80ce\u5150\u306e\u6210\u9577\u3084\u8133\u306e\u767a\u9054\u3001\u30db\u30eb\u30e2\u30f3\u306e\u5408\u6210\u306b\u3068\u3063\u3066\u3068\u3066\u3082\u5927\u5207\u306a\u7269\u8cea\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u306e\u75c5\u6c17\u306e\u5f71\u97ff\u306f\u5168\u8eab\u306b\u304a\u3088\u3073\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u8eab\u4f53\u7684\u306a\u5148\u5929\u7570\u5e38\uff08\u3046\u307e\u308c\u3064\u304d\u306e\u4f53\u306e\u69cb\u9020\u306e\u554f\u984c\uff09<\/li>\n\n\n\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u306b\u985e\u4f3c\u3057\u305f\u884c\u52d5\u306e\u7279\u5fb4<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u91cd\u75c7\u5ea6\u306f\u4eba\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u306e\u3046\u3061\u306b\u547d\u3092\u843d\u3068\u3059\u91cd\u75c7\u578b\u304b\u3089\u3001<\/li>\n\n\n\n<li>\u307b\u307c\u6b63\u5e38\u306b\u8fd1\u3044\u767a\u9054\u3092\u3059\u308b\u8efd\u75c7\u578b\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SLOS\uff08\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff09\u306f\u5e0c\u5c11\u75be\u60a3\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u3067\u306f\u4fdd\u56e0\u8005\u306e\u983b\u5ea6\u304c\u6bd4\u8f03\u7684\u9ad8\u304f\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u5b9f\u969b\u306e\u767a\u75c7\u983b\u5ea6\u306f\u3001\u304a\u304a\u3088\u305d20,000\u4eba\u301c60,000\u4eba\u306b1\u4eba\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u306e\u5272\u5408\u306f\u3001\u6c11\u65cf\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u3001\u3042\u308b\u96c6\u56e3\u3067\u306f\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u4fdd\u56e0\u8005\u3068\u306f\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u75c7\u72b6\u3092\u793a\u3055\u306a\u3044\u4eba\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\uff08Ashkenazi Jewish\uff09\u3067\u306f\u3001\u7d0443\u4eba\u306b1\u4eba\u304c\u3053\u306e\u907a\u4f1d\u5b50\u306e\u4fdd\u56e0\u8005\u3067\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5317\u6b27\u7cfb\uff08\u30b9\u30ab\u30f3\u30b8\u30ca\u30d3\u30a2\u306a\u3069\uff09\u306e\u96c6\u56e3\u3067\u306f\u3001\u7d0454\u4eba\u306b1\u4eba\u304c\u4fdd\u56e0\u8005\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u4fdd\u56e0\u8005\u540c\u58eb\u306e\u9593\u306b\u5b50\u3069\u3082\u304c\u751f\u307e\u308c\u308b\u5834\u5408\u3001\u7406\u8ad6\u7684\u306b\u306f\u7d044\u5206\u306e1\u306e\u78ba\u7387\u3067\u5b50\u3069\u3082\u304cSLOS\u3092\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001SLOS\u306f\u80ce\u5150\u306e\u3046\u3061\u306b\u547d\u3092\u843d\u3068\u3059\uff08\u80ce\u5150\u81f4\u6b7b\uff09\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u3042\u308b\u7814\u7a76\u3067\u306f\u3001\u598a\u5a20\u4e2d\u306e42\u301c88\uff05\u306eSLOS\u80ce\u5150\u304c\u51fa\u7523\u306b\u81f3\u3089\u306a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3064\u307e\u308a\u3001\u598a\u5a20\u306f\u6210\u7acb\u3057\u3066\u3082\u3001\u5b9f\u969b\u306b\u751f\u307e\u308c\u3066\u304f\u308b\u5b50\u3069\u3082\u306e\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u5927\u304d\u304f\u5c11\u306a\u3044\u3068\u3044\u3046\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>SLOS\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060DHCR7\u907a\u4f1d\u5b50\u306e\u5909\u7570\uff08\u3078\u3093\u3044\uff09\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u7570\u5e38\u3067\u3042\u308b\u5834\u5408\u3001\u3064\u307e\u308a\u300c\u30db\u30e2\u63a5\u5408\u578b\uff08homozygous\uff09\u300d\u307e\u305f\u306f\u300c\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u578b\uff08compound heterozygous\uff09\u300d\u306e\u3068\u304d\u306b\u75c5\u6c17\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u6b21\u306e2\u3064\u306e\u5927\u304d\u306a\u554f\u984c\u304c\u4f53\u5185\u3067\u8d77\u3053\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4e0d\u8db3<br>\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u3001\u7d30\u80de\u306e\u819c\uff08\u7d30\u80de\u3069\u3046\u3057\u306e\u5883\u76ee\uff09\u3084\u3001\u80ce\u5150\u306e\u767a\u80b2\u306b\u95a2\u308f\u308b\u4fe1\u53f7\uff08\u3068\u304f\u306b\u300c\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff08Sonic Hedgehog\uff09\u300d\u3068\u3044\u3046\u91cd\u8981\u306a\u30b7\u30b0\u30ca\u30eb\uff09\u3001\u305d\u3057\u3066\u30db\u30eb\u30e2\u30f3\u306e\u6750\u6599\u3068\u3057\u3066\u975e\u5e38\u306b\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u80ce\u5150\u306e\u767a\u9054\u3084\u8133\u306e\u6210\u9577\u3001\u30db\u30eb\u30e2\u30f3\u30d0\u30e9\u30f3\u30b9\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u4e2d\u9593\u4ee3\u8b1d\u7269\uff08\u3061\u3085\u3046\u304b\u3093\u305f\u3044\u3057\u3083\u3076\u3064\uff09\u306e\u7570\u5e38\u84c4\u7a4d<br>\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306b\u306a\u308b\u524d\u306e\u6bb5\u968e\u306e\u7269\u8cea\u3067\u3042\u308b\u300c7-DHC\uff087-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u300d\u3084\u3001\u305d\u306e\u7570\u6027\u4f53\u3067\u3042\u308b\u300c8-DHC\uff088-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u300d\u304c\u4f53\u5185\u306b\u305f\u307e\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306e\u7269\u8cea\u306f\u3001\u9178\u5316\uff08\u3055\u3093\u304b\uff09\u306b\u3088\u3063\u3066\u6bd2\u6027\u306e\u3042\u308b\u7269\u8cea\uff08\u305f\u3068\u3048\u3070DHCEO\uff09\u306b\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u4f53\u306e\u7d30\u80de\u3084\u8133\u306b\u3068\u3063\u3066\u6709\u5bb3\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001SLOS\u3067\u306f\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306e\u4e0d\u8db3\u3068\u3001\u6709\u5bb3\u7269\u8cea\u306e\u84c4\u7a4d\u306e\u4e21\u65b9\u304c\u3001\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u306e\u539f\u56e0\u306b\u306a\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u907a\u4f1d\u5b50\u5909\u7570\u306e\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u75c5\u6c17\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/sotos-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos\u75c7\u5019\u7fa4\uff09\u306e\u539f\u56e0\u3068\u75c7\u72b6\u3068\u306f\uff1f\u3010\u533b\u5e2b\u76e3\u4fee\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u30bd\u30c8\u30b9\u75c7\u5019\u7fa4\uff08Sotos\u75c7\u5019\u7fa4\uff09\u306f\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u904e\u6210\u9577\u75be\u60a3\u306e1\u3064\u3067\u3042\u308a\u3001\u4e00\u822c\u306b\u5c0f\u5150\u671f\u306b\u816b\u760d\u3092\u767a\u751f\u3057\u3084\u3059\u304f\u306a\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u72ec\u7279\u306e\u9854...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>SLOS\u306e\u75c7\u72b6\u306f\u3001\u975e\u5e38\u306b\u591a\u69d8\u3067\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002\u4ee5\u4e0b\u306f\u3001\u3088\u304f\u898b\u3089\u308c\u308b\u4e3b\u306a\u75c7\u72b6\u3067\u3059\uff1a<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%88%90%E9%95%B7%E3%81%A8%E7%99%BA%E9%81%94%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u2460 \u6210\u9577\u3068\u767a\u9054\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u524d\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u767a\u80b2\u4e0d\u5168<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08\u3057\u3087\u3046\u3068\u3046\u3057\u3087\u3046\uff1a\u982d\u56f2\u304c\u5c0f\u3055\u3044\uff09<\/li>\n\n\n\n<li>\u4f53\u91cd\u304c\u5897\u3048\u306b\u304f\u3044\uff08\u54fa\u4e73\u969c\u5bb3\uff09<\/li>\n\n\n\n<li>\u4f4e\u8eab\u9577<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_%E7%A5%9E%E7%B5%8C%E3%82%84%E8%A1%8C%E5%8B%95%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u2461 \u795e\u7d4c\u3084\u884c\u52d5\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li>\u767a\u9054\u306e\u9045\u308c<\/li>\n\n\n\n<li>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u306e\u3088\u3046\u306a\u884c\u52d5<\/li>\n\n\n\n<li>\u523a\u6fc0\u306b\u5bfe\u3057\u3066\u654f\u611f\u3001\u6012\u308a\u3063\u307d\u3055\u3001\u4e0d\u7720<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093\u767a\u4f5c<\/li>\n\n\n\n<li>\u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u305f\u3068\u3048\u3070\u3001\u524d\u8133\u7652\u5408\u75c7\uff08holoprosencephaly\uff09\u3001\u8133\u6881\u6b20\u640d\uff08agenesis of the corpus callosum\uff09\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E9%A1%94%E3%82%84%E6%89%8B%E8%B6%B3%E3%81%AE%E5%BD%A2%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span>\u2462 \u9854\u3084\u624b\u8db3\u306e\u5f62\u306e\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\uff1a\u5c0f\u3055\u306a\u3042\u3054\uff08\u5c0f\u984e\u75c7\uff09\u3001\u307e\u3076\u305f\u304c\u5782\u308c\u308b\uff08\u773c\u77bc\u4e0b\u5782\uff09\u3001\u8033\u304c\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308b<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\uff08\u3053\u3046\u304c\u3044\u308c\u3064\uff1a\u53e3\u306e\u4e2d\u306e\u5929\u4e95\u306e\u88c2\u3051\u76ee\uff09<\/li>\n\n\n\n<li>\u8db3\u306e2\u756a\u76ee\u30683\u756a\u76ee\u306e\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\uff08\u5408\u6307\u75c7\uff1asyn\u30fbdactyly\uff09\u2190\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u6240\u898b<\/li>\n\n\n\n<li>\u591a\u6307\u75c7\uff08\u3086\u3073\u304c\u591a\u3044\uff09<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u5f62\u306e\u7570\u5e38\uff1a\u56db\u80a2\u306e\u77ed\u7e2e\u3001\u5185\u53cd\u8db3\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A3_%E5%BF%83%E8%87%93%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span>\u2463 \u5fc3\u81d3\u306e\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09\u3084\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/li>\n\n\n\n<li>\u52d5\u8108\u7ba1\u958b\u5b58\u75c7\uff08PDA\uff09<\/li>\n\n\n\n<li>\u5927\u52d5\u8108\u7e2e\u7a84\uff08coarctation of the aorta\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A4_%E7%94%9F%E6%AE%96%E5%99%A8%E3%82%84%E6%B3%8C%E5%B0%BF%E5%99%A8%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span>\u2464 \u751f\u6b96\u5668\u3084\u6ccc\u5c3f\u5668\u306e\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u3067\u306f\u5c3f\u9053\u4e0b\u88c2\uff08hypospadias\uff09\u3001\u5c0f\u9670\u830e\uff08micropenis\uff09\u3001\u9670\u56a2\u306e\u5206\u88c2\uff08bifid scrotum\uff09<\/li>\n\n\n\n<li>\u6027\u5206\u5316\u7570\u5e38\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u304c\u3042\u3044\u307e\u3044\u306a\u5916\u6027\u5668\uff09<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u4f4e\u5f62\u6210\u3084\u7121\u5f62\u6210<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A5_%E6%B6%88%E5%8C%96%E5%99%A8%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u2465 \u6d88\u5316\u5668\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u54fa\u4e73\u56f0\u96e3\u30fb\u5410\u304d\u3084\u3059\u3055<\/li>\n\n\n\n<li>\u5e7d\u9580\u72ed\u7a84\uff08\u3086\u3046\u3082\u3093\u304d\u3087\u3046\u3055\u304f\uff09<\/li>\n\n\n\n<li>\u8178\u306e\u4f4d\u7f6e\u7570\u5e38\uff08\u8178\u56de\u8ee2\u7570\u5e38\uff09<\/li>\n\n\n\n<li>\u809d\u6a5f\u80fd\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A6_%E5%86%85%E5%88%86%E6%B3%8C%E3%83%BB%E4%BB%A3%E8%AC%9D%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u2466 \u5185\u5206\u6ccc\u30fb\u4ee3\u8b1d\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\uff08hypocholesterolemia\uff09<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u526f\u814e\u4e0d\u5168\uff08adrenal insufficiency\uff09<\/li>\n\n\n\n<li>\u30d3\u30bf\u30df\u30f3D\u306e\u4ee3\u8b1d\u7570\u5e38\uff08\u5149\u306b\u654f\u611f\u306a\u306e\u306b\u8840\u4e2d\u30d3\u30bf\u30df\u30f3D\u304c\u9ad8\u304f\u306a\u308b\u3053\u3068\u3082\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A7_%E7%9B%AE%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u2467 \u76ee\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u307e\u3076\u305f\u304c\u5782\u308c\u308b\uff08\u773c\u77bc\u4e0b\u5782\uff09<\/li>\n\n\n\n<li>\u659c\u8996\uff08\u76ee\u306e\u4f4d\u7f6e\u306e\u305a\u308c\uff09<\/li>\n\n\n\n<li>\u767d\u5185\u969c<\/li>\n\n\n\n<li>\u7db2\u819c\u306e\u8840\u7ba1\u7570\u5e38\uff08\u307e\u308c\u3060\u304c\u8996\u529b\u306b\u5f71\u97ff\u3059\u308b\u53ef\u80fd\u6027\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A8_%E8%80%B3%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u2468 \u8033\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4f1d\u97f3\u6027\u307e\u305f\u306f\u611f\u97f3\u6027\u96e3\u8074\uff08\u5168\u4f53\u306e\u7d0465%\u306b\u898b\u3089\u308c\u308b\uff09<\/li>\n\n\n\n<li>\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A9_%E5%85%8D%E7%96%AB%E3%83%BB%E7%9A%AE%E8%86%9A%E3%81%AE%E5%95%8F%E9%A1%8C\"><\/span>\u2469 \u514d\u75ab\u30fb\u76ae\u819a\u306e\u554f\u984c<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u306b\u304b\u304b\u308a\u3084\u3059\u3044\uff08\u80f8\u817a\u306e\u767a\u80b2\u4e0d\u826f\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\uff09<\/li>\n\n\n\n<li>\u5149\u306b\u654f\u611f\u3001\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u306e\u3088\u3046\u306a\u767a\u75b9<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001SLOS\u306f\u5168\u8eab\u306b\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u304c\u51fa\u308b\u75c5\u6c17\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u306b\u306f\u304b\u306a\u308a\u306e\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u91cd\u3044\u5834\u5408\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u8efd\u75c7\u306e\u5834\u5408\u306b\u306f\u65e5\u5e38\u751f\u6d3b\u304c\u53ef\u80fd\u306a\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>SLOS\u306e\u8a3a\u65ad\u306f\u3001\u751f\u5316\u5b66\u691c\u67fb\uff08\u8840\u6db2\u3084\u5c3f\u306e\u6210\u5206\u691c\u67fb\uff09\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u4e21\u65b9\u3092\u4f7f\u3063\u3066\u884c\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u598a\u5a20\u4e2d\u306e\u8a3a\u65ad\u3084\u3001\u751f\u307e\u308c\u305f\u5f8c\u306e\u4f53\u306e\u69d8\u5b50\u3092\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88Biochemical_Testing%EF%BC%89\"><\/span>\u751f\u5316\u5b66\u7684\u691c\u67fb\uff08Biochemical Testing\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff08cholesterol\uff09\uff1a\u901a\u5e38\u3088\u308a\u4f4e\u304f\u306a\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3060\u3051\u3067\u306f\u8a3a\u65ad\u3067\u304d\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>7-DHC\uff087-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\u30848-DHC\uff088-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff09\uff1a\u8840\u6db2\u3084\u7f8a\u6c34\u3001\u7d44\u7e54\u306a\u3069\u3067\u4e0a\u6607\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>GC-MS\uff08\u30ac\u30b9\u30af\u30ed\u30de\u30c8\u30b0\u30e9\u30d5\u30a3\u30fc\u8cea\u91cf\u5206\u6790\uff1aGas Chromatography\u2013Mass Spectrometry\uff09\uff1a\u3053\u306e\u691c\u67fb\u306f\u30017-DHC\u306a\u3069\u306e\u7269\u8cea\u3092\u6b63\u78ba\u306b\u6e2c\u308b\u300c\u6a19\u6e96\u7684\u306a\u691c\u67fb\u65b9\u6cd5\u300d\u3067\u3059\u3002\u598a\u5a20\u4e2d\u3067\u3042\u308c\u3070\u3001\u6bcd\u4f53\u306e\u5c3f\u304b\u3089\u306e\u975e\u4fb5\u8972\u7684\u691c\u67fb\u3082\u53ef\u80fd\u3067\u3059\uff08\u4f8b\uff1a7-dehydropregnantriol\u30848-dehydroestriol\u306e\u6e2c\u5b9a\uff09\u3002<\/li>\n\n\n\n<li>\u5c3f\u4e2d\u30b9\u30c6\u30ed\u30a4\u30c9\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\uff1a\u526f\u814e\u30db\u30eb\u30e2\u30f3\u306e\u7523\u751f\u7570\u5e38\u3092\u793a\u3059\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%EF%BC%88Molecular_Testing%EF%BC%89\"><\/span>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Molecular Testing\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>DHCR7\u907a\u4f1d\u5b50\u306e\u5869\u57fa\u914d\u5217\u89e3\u6790\u306b\u3088\u3063\u3066\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u691c\u4f53\uff08\u691c\u67fb\u306e\u6750\u6599\uff09\u306f\u3001\u751f\u307e\u308c\u308b\u524d\u3067\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff08CVS\uff09\u3084\u7f8a\u6c34\u304b\u3089\u3001\u51fa\u751f\u5f8c\u3067\u306f\u8840\u6db2\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%87%A8%E5%BA%8A%E8%A9%95%E4%BE%A1%EF%BC%88Imaging_and_Clinical_Evaluation%EF%BC%89\"><\/span>\u753b\u50cf\u691c\u67fb\u30fb\u81e8\u5e8a\u8a55\u4fa1\uff08Imaging and Clinical Evaluation\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u524d\u8133\u7652\u5408\u75c7\u3001\u5fc3\u81d3\u5947\u5f62\u3001\u814e\u81d3\u306e\u7570\u5e38\u306a\u3069\u3092\u898b\u3064\u3051\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u5f8c\u306e\u8a55\u4fa1\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff1a\n<ul class=\"wp-block-list\">\n<li>\u8074\u529b\u691c\u67fb<\/li>\n\n\n\n<li>\u773c\u79d1\u691c\u67fb<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\uff08\u5fc3\u81d3\u306e\u8d85\u97f3\u6ce2\uff09<\/li>\n\n\n\n<li>\u814e\u81d3\u306e\u8d85\u97f3\u6ce2\u691c\u67fb<\/li>\n\n\n\n<li>\u30db\u30eb\u30e2\u30f3\u3084\u4ee3\u8b1d\u306e\u8840\u6db2\u691c\u67fb<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%EF%BC%88Differential_Diagnosis%EF%BC%89\"><\/span>\u9451\u5225\u8a3a\u65ad\uff08Differential Diagnosis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4ed6\u306e\u75c5\u6c17\u3068\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u533a\u5225\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ed6\u306e\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d\u7570\u5e38\uff08\u4f8b\uff1a\u30c7\u30b9\u30e2\u30b9\u30c6\u30ed\u30fc\u30eb\u75c7\u3001\u30e9\u30c8\u30b9\u30c6\u30ed\u30fc\u30eb\u75c7\uff09<\/li>\n\n\n\n<li>\u4ed6\u306e\u5148\u5929\u7570\u5e38\u75c7\u5019\u7fa4\uff08\u4f8b\uff1a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3001CHARGE\u75c7\u5019\u7fa4 \u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>SLOS\u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u5b8c\u6cbb\u3055\u305b\u308b\u6cbb\u7642\uff09\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3055\u307e\u3056\u307e\u306a\u30b1\u30a2\u306b\u3088\u3063\u3066\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u4f53\u306e\u3044\u308d\u3044\u308d\u306a\u90e8\u5206\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3001\u5c0f\u5150\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u907a\u4f1d\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u5fc3\u81d3\u79d1\u3001\u6804\u990a\u58eb\u3001\u8033\u9f3b\u79d1\u3001\u773c\u79d1\u306a\u3069\u591a\u8077\u7a2e\u306e\u9023\u643a\uff08\u30c1\u30fc\u30e0\u533b\u7642\uff09\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%82%B3%E3%83%AC%E3%82%B9%E3%83%86%E3%83%AD%E3%83%BC%E3%83%AB%E8%A3%9C%E5%85%85%E7%99%82%E6%B3%95%EF%BC%88Cholesterol_Supplementation%EF%BC%89\"><\/span>1. \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145\u7642\u6cd5\uff08Cholesterol Supplementation\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u6700\u3082\u4e00\u822c\u7684\u306b\u4f7f\u308f\u308c\u3066\u3044\u308b\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u4e0d\u8db3\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u5916\u304b\u3089\u98df\u4e8b\u3084\u30b5\u30d7\u30ea\u30e1\u30f3\u30c8\u306e\u5f62\u3067\u88dc\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u65b9\u6cd5\uff1a\u5375\u9ec4\u88fd\u5264\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5165\u308a\u306e\u7279\u6b8a\u30df\u30eb\u30af\u3001\u30ab\u30d7\u30bb\u30eb\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u671f\u5f85\u3055\u308c\u308b\u52b9\u679c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u3084\u4f53\u91cd\u5897\u52a0\u306e\u6539\u5584<\/li>\n\n\n\n<li>\u30db\u30eb\u30e2\u30f3\u5408\u6210\u306e\u88dc\u52a9\u3001\u7d30\u80de\u819c\u306e\u5b89\u5b9a<\/li>\n\n\n\n<li>7-DHC\u306a\u3069\u306e\u7570\u5e38\u7269\u8cea\u306e\u6e1b\u5c11\u306e\u53ef\u80fd\u6027<\/li>\n<\/ul>\n\n\n\n<p>\u9650\u754c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u8840\u6db2\u8133\u95a2\u9580\uff08blood\u2013brain barrier\uff09\u3092\u901a\u308c\u306a\u3044\u305f\u3081\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u884c\u52d5\u9762\u306e\u6539\u5584\u306b\u306f\u9650\u754c\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u306e\u75c7\u72b6\u306b\u306f\u76f4\u63a5\u7684\u306a\u52b9\u679c\u304c\u51fa\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E3%82%B9%E3%82%BF%E3%83%81%E3%83%B3%E7%99%82%E6%B3%95%EF%BC%88Statin_Therapy%EF%BC%9A%E6%85%8E%E9%87%8D%E3%81%AB%E4%BD%BF%E7%94%A8%EF%BC%89\"><\/span>2. \u30b9\u30bf\u30c1\u30f3\u7642\u6cd5\uff08Statin Therapy\uff1a\u614e\u91cd\u306b\u4f7f\u7528\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u4e00\u822c\u306b\u306f\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u4e0b\u3052\u308b\u85ac\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u304c\u3001SLOS\u3067\u306f\u7570\u5e38\u7269\u8cea\uff087-DHC\uff09\u306e\u6291\u5236\u3092\u76ee\u7684\u3068\u3057\u3066\u7814\u7a76\u7684\u306b\u4f7f\u7528\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7406\u8ad6\u7684\u306a\u76ee\u7684\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>7-DHC\u30848-DHC\u306e\u4f53\u5185\u91cf\u3092\u6e1b\u3089\u3059\u3053\u3068\u3067\u3001\u6bd2\u6027\u3092\u4e0b\u3052\u308b<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u304c\u5c11\u3057\u3060\u3051\u50cd\u3044\u3066\u3044\u308b\uff08\u4f4e\u6d3b\u6027\u578b\uff09\u306e\u5834\u5408\u306b\u3001\u9175\u7d20\u306e\u50cd\u304d\u3092\u52a9\u3051\u308b\u53ef\u80fd\u6027<\/li>\n<\/ul>\n\n\n\n<p>\u6ce8\u610f\u70b9\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u73fe\u6642\u70b9\u3067\u306f\u6709\u52b9\u6027\u304c\u5341\u5206\u306b\u8a3c\u660e\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u526f\u4f5c\u7528\u306e\u30ea\u30b9\u30af\uff08\u809d\u969c\u5bb3\u3001\u7b4b\u8089\u306e\u554f\u984c\u3001\u7761\u7720\u969c\u5bb3\u306a\u3069\uff09\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u5150\u3067\u306e\u4f7f\u7528\u306f\u3042\u304f\u307e\u3067\u7814\u7a76\u6bb5\u968e\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u6cbb\u7642\u3068\u3057\u3066\u306f\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%A0%84%E9%A4%8A%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88%EF%BC%88Nutritional_Support%EF%BC%89\"><\/span>3. \u6804\u990a\u30b5\u30dd\u30fc\u30c8\uff08Nutritional Support\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u591a\u304f\u306e\u4e73\u5150\u3084\u5b50\u3069\u3082\u304c\u54fa\u4e73\u56f0\u96e3\u30fb\u5410\u304d\u3084\u3059\u3055\u30fb\u6210\u9577\u4e0d\u826f\u3092\u7d4c\u9a13\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bfe\u5fdc\u65b9\u6cd5\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u30ab\u30ed\u30ea\u30fc\u306e\u7279\u6b8a\u30df\u30eb\u30af<\/li>\n\n\n\n<li>\u3068\u308d\u307f\u3092\u3064\u3051\u305f\u30df\u30eb\u30af\u3067\u9006\u6d41\u3092\u9632\u3050<\/li>\n\n\n\n<li>\u80c3\u763b\uff08\u3044\u308d\u3046\uff09\u30c1\u30e5\u30fc\u30d6\u306a\u3069\u3092\u4f7f\u3063\u3066\u6804\u990a\u3092\u88dc\u3046\u5834\u5408\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u6804\u990a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3067\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3084\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\uff08A\u3001D\u3001E\u3001K\uff09\u3001\u30ab\u30eb\u30b7\u30a6\u30e0\u3001\u30db\u30eb\u30e2\u30f3\u306a\u3069\u3092\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059<\/li>\n\n\n\n<li>\u7279\u306b\u30d3\u30bf\u30df\u30f3D\u306f\u904e\u5270\u306b\u306a\u308a\u3084\u3059\u3044\u305f\u3081\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%86%85%E5%88%86%E6%B3%8C%E3%81%A8%E3%83%9B%E3%83%AB%E3%83%A2%E3%83%B3%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Endocrine_and_Hormonal_Care%EF%BC%89\"><\/span>4. \u5185\u5206\u6ccc\u3068\u30db\u30eb\u30e2\u30f3\u306e\u30b1\u30a2\uff08Endocrine and Hormonal Care\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u4f53\u306e\u4e2d\u3067\u591a\u304f\u306e\u30db\u30eb\u30e2\u30f3\u3092\u3064\u304f\u308b\u300c\u6750\u6599\u300d\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001SLOS\u306e\u5b50\u3069\u3082\u305f\u3061\u306b\u306f\u30db\u30eb\u30e2\u30f3\u95a2\u9023\u306e\u554f\u984c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u526f\u814e\uff08\u3075\u304f\u3058\u3093\uff09\u306e\u50cd\u304d\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u526f\u814e\u306f\u3001\u30b9\u30c8\u30ec\u30b9\u3084\u611f\u67d3\u6642\u306b\u5fc5\u8981\u306a\u30db\u30eb\u30e2\u30f3\uff08\u30b3\u30eb\u30c1\u30be\u30fc\u30eb\u306a\u3069\uff09\u3092\u3064\u304f\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>SLOS\u3067\u306f\u526f\u814e\u4e0d\u5168\uff08adrenal insufficiency\uff09\u304c\u307e\u308c\u306b\u307f\u3089\u308c\u3001\u7279\u306b\u91cd\u75c7\u578b\u306e\u65b0\u751f\u5150\u3067\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5143\u6c17\u304c\u306a\u3044\u3001\u4f4e\u8840\u5727\u3001\u4f4e\u30ca\u30c8\u30ea\u30a6\u30e0\u8840\u75c7\u306a\u3069\u304c\u3042\u308b\u5834\u5408\u306f\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6027\u306e\u767a\u9054\u306b\u95a2\u3059\u308b\u554f\u984c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7537\u5150\u306b\u306f\u5c3f\u9053\u4e0b\u88c2\u3001\u5c0f\u9670\u830e\u3001\u505c\u7559\u7cbe\u5de3\u306a\u3069\u304c\u591a\u304f\u307f\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30db\u30eb\u30e2\u30f3\u691c\u67fb\u3084\u7537\u6027\u30db\u30eb\u30e2\u30f3\uff08\u30c6\u30b9\u30c8\u30b9\u30c6\u30ed\u30f3\uff09\u88dc\u5145\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u7532\u72b6\u817a\u3084\u30ab\u30eb\u30b7\u30a6\u30e0\u306e\u30d0\u30e9\u30f3\u30b9\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>SLOS\u3067\u306f\u307e\u308c\u306b\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3084\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%81%B4%E8%A6%9A%E3%81%A8%E8%A6%96%E8%A6%9A%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Hearing_and_Vision_Care%EF%BC%89\"><\/span>5. \u8074\u899a\u3068\u8996\u899a\u306e\u30b1\u30a2\uff08Hearing and Vision Care\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u306e\u5b50\u3069\u3082\u305f\u3061\u306b\u306f\u8033\u3084\u76ee\u306e\u554f\u984c\u304c\u3057\u3070\u3057\u3070\u307f\u3089\u308c\u307e\u3059\u304c\u3001\u767a\u9054\u306e\u9045\u308c\u306e\u5f71\u306b\u96a0\u308c\u3066\u898b\u843d\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8074\u529b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u304a\u3088\u305d60%\u306e\u5b50\u3069\u3082\u304c\u96e3\u8074\uff08\u306a\u3093\u3061\u3087\u3046\uff09\u3092\u6301\u3061\u3001\u4f1d\u97f3\u6027\uff08\u4e2d\u8033\uff09\u3068\u611f\u97f3\u6027\uff08\u5185\u8033\uff09\u306e\u4e21\u65b9\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e73\u5150\u671f\u304b\u3089\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88dc\u8074\u5668\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u4eba\u5de5\u5185\u8033\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8996\u529b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u77bc\u4e0b\u5782\uff08\u304c\u3093\u3051\u3093\u304b\u3059\u3044\uff09\u3001\u659c\u8996\uff08\u3057\u3083\u3057\uff09\u3001\u767d\u5185\u969c\u306a\u3069\u306e\u7570\u5e38\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7db2\u819c\u8840\u7ba1\u306e\u7570\u5e38\uff08\u307e\u308c\u3060\u304c\u8996\u529b\u306b\u5f71\u97ff\uff09\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5c0f\u5150\u773c\u79d1\u533b\u306b\u3088\u308b\u5b9a\u671f\u7684\u306a\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%E3%81%A8%E8%A1%8C%E5%8B%95%E9%9D%A2%E3%81%AE%E3%82%B1%E3%82%A2%EF%BC%88Developmental_and_Behavioral_Support%EF%BC%89\"><\/span>6. \u767a\u9054\u652f\u63f4\u3068\u884c\u52d5\u9762\u306e\u30b1\u30a2\uff08Developmental and Behavioral Support\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u306e\u591a\u304f\u306e\u5b50\u3069\u3082\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u306e\u884c\u52d5\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u767a\u9054\u652f\u63f4\u304c\u3001\u5c06\u6765\u306e\u751f\u6d3b\u306e\u8cea\u306b\u5927\u304d\u304f\u5f71\u97ff\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6709\u52b9\u306a\u7642\u80b2\u30fb\u652f\u63f4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u7642\u80b2\uff080\u301c3\u6b73\uff09<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\uff08PT\uff1a\u904b\u52d5\u6a5f\u80fd\u306e\u6539\u5584\uff09<\/li>\n\n\n\n<li>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff1a\u7d30\u304b\u3044\u624b\u306e\u52d5\u304d\u3084\u611f\u899a\u7d71\u5408\uff09<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff1a\u3053\u3068\u3070\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u30b5\u30dd\u30fc\u30c8\uff09<\/li>\n\n\n\n<li>\u5fdc\u7528\u884c\u52d5\u5206\u6790\uff08ABA\uff09\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u3042\u308b\u5b50\u3069\u3082\u5411\u3051\u306e\u884c\u52d5\u7642\u6cd5<\/li>\n<\/ul>\n\n\n\n<p>\u884c\u52d5\u4e0a\u306e\u8ab2\u984c\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u50b7\u884c\u70ba\uff08\u4f8b\uff1a\u982d\u3092\u6253\u3061\u3064\u3051\u308b\uff09<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3<\/li>\n\n\n\n<li>\u653b\u6483\u6027\u3001\u885d\u52d5\u6027\u3001\u4e0d\u5b89\u611f<br>\u2192 \u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u5c0f\u5150\u7cbe\u795e\u79d1\u3084\u5fc3\u7406\u58eb\u306e\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E5%A4%96%E7%A7%91%E7%9A%84%E3%81%8A%E3%82%88%E3%81%B3%E5%86%85%E7%A7%91%E7%9A%84%E3%81%AA%E6%B2%BB%E7%99%82%EF%BC%88Surgical_and_Medical_Management_of_Malformations%EF%BC%89\"><\/span>7. \u5916\u79d1\u7684\u304a\u3088\u3073\u5185\u79d1\u7684\u306a\u6cbb\u7642\uff08Surgical and Medical Management of Malformations\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5148\u5929\u6027\u306e\u5f62\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3066\u3001\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u81d3\u306e\u624b\u8853\uff08\u5fc3\u623f\u30fb\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u6ccc\u5c3f\u5668\u30fb\u751f\u6b96\u5668\u306e\u624b\u8853\uff08\u5c3f\u9053\u4e0b\u88c2\u3001\u505c\u7559\u7cbe\u5de3\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u306e\u5f62\u6210\u624b\u8853<\/li>\n\n\n\n<li>\u6574\u5f62\u5916\u79d1\u624b\u8853\uff08\u8db3\u306e\u5909\u5f62\u3001\u6b69\u884c\u56f0\u96e3\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u305d\u308c\u305e\u308c\u306e\u304a\u5b50\u3055\u307e\u306b\u5408\u3063\u305f\u533b\u7642\u30c1\u30fc\u30e0\u306b\u3088\u308b\u5bfe\u5fdc\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E5%AE%9A%E6%9C%9F%E7%9A%84%E3%81%AA%E7%B5%8C%E9%81%8E%E8%A6%B3%E5%AF%9F%E3%81%A8%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC%E3%82%A2%E3%83%83%E3%83%97%EF%BC%88Monitoring_and_Surveillance%EF%BC%89\"><\/span>8. \u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\uff08Monitoring and Surveillance\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u306f\u3001\u75c7\u72b6\u304c\u8efd\u304f\u3066\u3082\u5b9a\u671f\u7684\u306a\u533b\u7642\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30fb\u767a\u9054\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/li>\n\n\n\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145\u7642\u6cd5\u306e\u8abf\u6574<\/li>\n\n\n\n<li>\u8074\u529b\u3084\u8996\u529b\u306e\u7d4c\u904e\u89b3\u5bdf<\/li>\n\n\n\n<li>\u30db\u30eb\u30e2\u30f3\u3084\u4ee3\u8b1d\u306e\u7570\u5e38\u306e\u65e9\u671f\u767a\u898b<\/li>\n\n\n\n<li>\u5bb6\u65cf\u3078\u306e\u7cbe\u795e\u7684\u30fb\u5b9f\u52d9\u7684\u306a\u30b5\u30dd\u30fc\u30c8<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E9%81%BA%E4%BC%9D%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%A8%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4%EF%BC%88Genetic_Counseling_and_Family_Planning%EF%BC%89\"><\/span>9. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u5bb6\u65cf\u652f\u63f4\uff08Genetic Counseling and Family Planning\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>SLOS\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u306e\u75c5\u6c17\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u4e21\u89aa\u304c\u3068\u3082\u306b\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u598a\u5a20\u3067\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>25%\u306e\u78ba\u7387\u3067\u75c5\u6c17\u306e\u5b50\u3069\u3082\u304c\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027<\/li>\n\n\n\n<li>50%\u306e\u78ba\u7387\u3067\u30ad\u30e3\u30ea\u30a2\uff08\u75c5\u6c17\u306f\u767a\u75c7\u3057\u306a\u3044\u304c\u907a\u4f1d\u5b50\u3092\u6301\u3064\uff09<\/li>\n\n\n\n<li>25%\u306e\u78ba\u7387\u3067\u307e\u3063\u305f\u304f\u6b63\u5e38<\/li>\n<\/ul>\n\n\n\n<p>\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e21\u89aa\u3001\u5144\u5f1f\u59c9\u59b9\u3001\u89aa\u621a\u3078\u306e\u30ad\u30e3\u30ea\u30a2\u691c\u67fb<\/li>\n\n\n\n<li>\u6b21\u306e\u598a\u5a20\u306b\u5099\u3048\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3001\u6bcd\u4f53\u5c3f\u306eGC-MS\u306b\u3088\u308b\u691c\u67fb\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u304c\u3001\u4eca\u5f8c\u306e\u3054\u5bb6\u65cf\u306e\u610f\u601d\u6c7a\u5b9a\u3092\u652f\u3048\u308b\u5927\u304d\u306a\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/williams_beuren\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Williams-Beuren\u75c7\u5019\u7fa4\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4 (Williams Syndrome, WS) \u306f\u7a00\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u795e\u7d4c\u767a\u9054\u306e\u8ab2\u984c\u3084\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u554f\u984c\u304c\u898b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><\/h3>\n\n\n\n<p>SLOS\u306e\u5c06\u6765\u4e88\u6e2c\uff08\u4e88\u5f8c\uff09\u306f\u3001\u75c7\u72b6\u306e\u91cd\u3055\u3068\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u30847-DHC\u306e\u5024\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%87%8D%E7%97%87%E5%9E%8B%EF%BC%9A\"><\/span>\u91cd\u75c7\u578b\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u3084\u65b0\u751f\u5150\u671f\u306b\u547d\u3092\u843d\u3068\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\uff08\u6557\u8840\u75c7\u3001\u591a\u81d3\u5668\u4e0d\u5168\u3001\u5fc3\u81d3\u5947\u5f62\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%AD%E7%AD%89%E5%BA%A6%EF%BC%9A\"><\/span>\u4e2d\u7b49\u5ea6\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u591a\u81d3\u5668\u306e\u554f\u984c\u304c\u3042\u308a\u306a\u304c\u3089\u3082\u3001\u6210\u4eba\u307e\u3067\u751f\u5b58\u53ef\u80fd\u306a\u4f8b\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%9A\"><\/span>\u8efd\u75c7\u578b\uff1a<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5024\u304c\u6bd4\u8f03\u7684\u9ad8\u304f\u3001\u5947\u5f62\u304c\u5c11\u306a\u3044\u5834\u5408\u306f\u3001\u307b\u307c\u901a\u5e38\u306e\u767a\u9054\u3092\u793a\u3059\u4f8b\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p>\u3042\u308b\u7814\u7a76\u3067\u306f\u300135\u6b73\u4ee5\u4e0a\u306e\u751f\u5b58\u7387\u304c\u7d0475%\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u75c5\u6c17\u306f\u975e\u5e38\u306b\u307e\u308c\u3067\u3042\u308a\u3001\u9577\u671f\u306e\u7d4c\u904e\u306b\u95a2\u3059\u308b\u30c7\u30fc\u30bf\u306f\u307e\u3060\u5c11\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7a81\u7136\u6b7b\u306e\u30ea\u30b9\u30af\u8981\u56e0\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u5ea6\u306e\u5148\u5929\u7570\u5e38<\/li>\n\n\n\n<li>\u8840\u4e2d\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5024\u304c\u6975\u7aef\u306b\u4f4e\u3044\uff08\u2264 0.35 mmol\/L\uff09<\/li>\n\n\n\n<li>\u6b7b\u4ea1\u8a3a\u65ad\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u300c\u4e0d\u7279\u5b9a\u306e\u5148\u5929\u6027\u7570\u5e38\u300d<\/li>\n\n\n\n<li>\u526f\u814e\u4e0d\u5168\u3084\u611f\u67d3\u75c7\u304c\u539f\u56e0\u306e\u53ef\u80fd\u6027\u3082<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5148\u5929\u6027\uff08Congenital\uff09<\/strong><strong><br><\/strong> \u751f\u307e\u308c\u305f\u3068\u304d\u304b\u3089\u3042\u308b\u72b6\u614b\u3084\u75c5\u6c17\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff08Cholesterol\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u7d30\u80de\u3001\u8133\u3001\u30db\u30eb\u30e2\u30f3\u306a\u3069\u306b\u3068\u3063\u3066\u3068\u3066\u3082\u5927\u5207\u306a\u8102\uff08\u3042\u3076\u3089\uff09\u3067\u3059\u3002\u8d64\u3061\u3083\u3093\u306e\u6210\u9577\u306b\u3082\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff087-dehydrocholesterol, 7-DHC\uff09<\/strong><strong><br><\/strong> \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306b\u306a\u308b\u524d\u6bb5\u968e\u306e\u7269\u8cea\u3067\u3059\u3002SLOS\u306e\u5b50\u3069\u3082\u3067\u306f\u3053\u308c\u304c\u305f\u307e\u308a\u3059\u304e\u3066\u3001\u4f53\u306b\u60aa\u3044\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e2d\u9593\u4ee3\u8b1d\u7269\uff08Intermediate metabolites\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u3067\u7269\u8cea\u304c\u5909\u5316\u3057\u3066\u3044\u304f\u9014\u4e2d\u306b\u3067\u304d\u308b\u3082\u306e\u3067\u3059\u3002SLOS\u3067\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306b\u5909\u308f\u308b\u306f\u305a\u306e\u9014\u4e2d\u306e\u7269\u8cea\u304c\u305f\u307e\u308a\u3001\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u9178\u5316\u30b9\u30c8\u30ec\u30b9\uff08Oxidative stress\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u3067\u300c\u3055\u3073\u300d\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u8d77\u304d\u3066\u3001\u7d30\u80de\u306b\u30c0\u30e1\u30fc\u30b8\u3092\u4e0e\u3048\u308b\u72b6\u614b\u3067\u3059\u3002\u305f\u307e\u3063\u305f\u7269\u8cea\u304c\u9178\u5316\u3057\u3066\u7d30\u80de\u3092\u50b7\u3064\u3051\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>DHCR7\u907a\u4f1d\u5b50\uff08DHCR7 gene\uff09<\/strong><strong><br><\/strong> \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u4f53\u306e\u4e2d\u3067\u4f5c\u308b\u305f\u3081\u306e\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u3088\u3046\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002SLOS\u3067\u306f\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308a\u3001\u3046\u307e\u304f\u4f5c\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08Autosomal Recessive\uff09<\/strong><strong><br><\/strong> \u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u300c\u75c5\u6c17\u306e\u3082\u3068\u306b\u306a\u308b\u907a\u4f1d\u5b50\u300d\u3092\u6301\u3063\u3066\u3044\u308b\u3068\u3001\u5b50\u3069\u3082\u306b\u305d\u306e\u75c5\u6c17\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u89aa\u306b\u75c7\u72b6\u306f\u51fa\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u4fdd\u56e0\u8005\uff08Carrier\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u30921\u3064\u6301\u3063\u3066\u3044\u308b\u4eba\u3067\u3059\u3002\u81ea\u5206\u306b\u306f\u75c7\u72b6\u304c\u51fa\u307e\u305b\u3093\u304c\u3001\u5b50\u3069\u3082\u306b\u907a\u4f1d\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Intellectual Disability\uff09<\/strong><strong><br><\/strong> \u8003\u3048\u308b\u529b\u3084\u751f\u6d3b\u30b9\u30ad\u30eb\u306b\u652f\u63f4\u304c\u5fc5\u8981\u306a\u72b6\u614b\u3067\u3059\u3002\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u3001\u305d\u306e\u5b50\u306b\u5408\u3063\u305f\u30da\u30fc\u30b9\u3067\u6210\u9577\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u671f\u5f85\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08Autism Spectrum Disorder, ASD\uff09<\/strong><strong><br><\/strong> \u3053\u3068\u3070\u3084\u4eba\u3068\u306e\u95a2\u308f\u308a\u65b9\u3001\u884c\u52d5\u306e\u7279\u5fb4\u306b\u500b\u6027\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002SLOS\u306e\u5b50\u3069\u3082\u306b\u306f\u3053\u308c\u306b\u4f3c\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09<\/strong><strong><br><\/strong> \u982d\u306e\u5927\u304d\u3055\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u3044\u72b6\u614b\u3067\u3001\u8133\u306e\u767a\u9054\u306b\u95a2\u4fc2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5408\u6307\u75c7\uff08Syndactyly\uff09<\/strong><strong><br><\/strong> \u624b\u3084\u8db3\u306e\u6307\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002SLOS\u3067\u306f\u8db3\u306e\u6307\uff082\u756a\u76ee\u30683\u756a\u76ee\uff09\u304c\u304f\u3063\u3064\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u591a\u767a\u5947\u5f62\uff08Multiple congenital anomalies\uff09<\/strong><strong><br><\/strong> \u9854\u3001\u624b\u8db3\u3001\u5fc3\u81d3\u306a\u3069\u8907\u6570\u306e\u5834\u6240\u306b\u3001\u751f\u307e\u308c\u3064\u304d\u5f62\u306e\u7570\u5e38\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08Ventricular Septal Defect, VSD\uff09<\/strong><strong><br><\/strong> \u5fc3\u81d3\u306e\u58c1\u306b\u7a74\u304c\u3042\u3044\u3066\u3044\u3066\u3001\u8840\u6db2\u306e\u6d41\u308c\u306b\u554f\u984c\u304c\u51fa\u307e\u3059\u3002\u624b\u8853\u3067\u6cbb\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5c3f\u9053\u4e0b\u88c2\uff08Hypospadias\uff09<\/strong><strong><br><\/strong> \u7537\u306e\u5b50\u306e\u5c3f\u306e\u51fa\u53e3\u304c\u901a\u5e38\u306e\u4f4d\u7f6e\u306b\u306a\u3044\u72b6\u614b\u3067\u3001\u6392\u5c3f\u3084\u6027\u306e\u767a\u9054\u306b\u95a2\u4fc2\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u526f\u814e\u4e0d\u5168\uff08Adrenal Insufficiency\uff09<\/strong><strong><br><\/strong> \u30b9\u30c8\u30ec\u30b9\u306b\u5bfe\u5fdc\u3059\u308b\u30db\u30eb\u30e2\u30f3\u304c\u8db3\u308a\u306a\u304f\u306a\u308b\u3053\u3068\u3067\u3059\u3002\u65e9\u671f\u306b\u898b\u3064\u3051\u308c\u3070\u3001\u85ac\u3067\u5bfe\u5fdc\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3051\u3044\u308c\u3093\u767a\u4f5c\uff08Seizure\uff09<\/strong><strong><br><\/strong> \u8133\u306e\u96fb\u6c17\u7684\u306a\u50cd\u304d\u306e\u4e71\u308c\u3067\u3001\u4f53\u304c\u3075\u308b\u3048\u305f\u308a\u610f\u8b58\u304c\u306a\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u8a2d\u8a08\u56f3\uff08DNA\uff09\u3092\u8abf\u3079\u3066\u3001\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u5909\u5316\u304c\u3042\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>GC-MS\uff08Gas Chromatography\u2013Mass Spectrometry\uff09<\/strong><strong><br><\/strong> \u8840\u6db2\u3084\u5c3f\u304b\u3089\u3001\u7279\u5b9a\u306e\u7269\u8cea\uff087-DHC\u306a\u3069\uff09\u3092\u6b63\u78ba\u306b\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002SLOS\u306e\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff08Chorionic Villus Sampling \/ Amniocentesis\uff09<\/strong><br>\u598a\u5a20\u4e2d\u306b\u8d64\u3061\u3083\u3093\u306e\u907a\u4f1d\u5b50\u306e\u72b6\u614b\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u306f\u80ce\u76e4\u306e\u4e00\u90e8\u3092\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306f\u8d64\u3061\u3083\u3093\u306e\u307e\u308f\u308a\u306e\u6c34\uff08\u7f8a\u6c34\uff09\u3092\u3001\u3068\u3063\u3066\u8abf\u3079\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u3001NIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u306f\u7570\u306a\u308a\u3001\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u305f\u3081\u306e\u300c\u78ba\u5b9a\u691c\u67fb diagnostic test\u300d\u3068\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u4f53\u306b\u91dd\u3092\u523a\u3059\u4fb5\u8972\u7684\uff08\u3057\u3093\u3057\u3085\u3046\u3066\u304d\uff09\u306a\u691c\u67fb\u3067\u3042\u308a\u3001\u3054\u304f\u307e\u308c\u3067\u3059\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306a\u3069\u8d64\u3061\u3083\u3093\u306b\u5f71\u97ff\u304c\u51fa\u308b\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08Prenatal Diagnosis\uff09<\/strong><strong><br><\/strong> \u8d64\u3061\u3083\u3093\u304c\u751f\u307e\u308c\u308b\u524d\u306b\u3001\u75c5\u6c17\u306e\u53ef\u80fd\u6027\u3092\u8abf\u3079\u308b\u691c\u67fb\u5168\u4f53\u306e\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145\u7642\u6cd5\uff08Cholesterol Supplementation\uff09<\/strong><strong><br><\/strong> \u4f53\u306b\u5fc5\u8981\u306a\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u5375\u3084\u30b5\u30d7\u30ea\u3067\u5916\u304b\u3089\u88dc\u3046\u6cbb\u7642\u3067\u3059\u3002\u6210\u9577\u3084\u4f53\u306e\u50cd\u304d\u3092\u52a9\u3051\u307e\u3059\u304c\u3001\u8133\u3078\u306e\u76f4\u63a5\u306e\u52b9\u679c\u306f\u9650\u5b9a\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b9\u30bf\u30c1\u30f3\u7642\u6cd5\uff08Statin Therapy\uff09<\/strong><strong><br><\/strong> \u3082\u3068\u3082\u3068\u306f\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3092\u4e0b\u3052\u308b\u85ac\u3067\u3059\u304c\u3001SLOS\u3067\u306f\u305f\u307e\u308a\u3059\u304e\u305f\u7269\u8cea\u3092\u6e1b\u3089\u3059\u76ee\u7684\u3067\u3001\u7814\u7a76\u7684\u306b\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6804\u990a\u30b5\u30dd\u30fc\u30c8\uff08Nutritional Support\uff09<\/strong><strong><br><\/strong> 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\u907a\u4f1d\u306b\u3064\u3044\u3066\u304f\u308f\u3057\u3044\u5c02\u9580\u5bb6\u304c\u3001\u3054\u5bb6\u65cf\u306e\u4e0d\u5b89\u3084\u4eca\u5f8c\u306e\u598a\u5a20\u30fb\u5b50\u80b2\u3066\u306b\u3064\u3044\u3066\u76f8\u8ac7\u306b\u306e\u3063\u3066\u304f\u308c\u308b\u652f\u63f4\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1002\/14651858.CD013521.pub2\">Ballout, Rami A., et al. \u2018Statins for Smith-Lemli-Opitz Syndrome\u2019. Cochrane Database of Systematic Reviews, edited by Cochrane Cystic Fibrosis and Genetic Disorders Group, vol. 2022, no. 11, Nov. 2022. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/14651858.CD013521.pub2.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.5603\/GP.2020.0049\">Jezela-Stanek, Aleksandra, et al. \u2018GC-MS as a Tool for Reliable Non-Invasive Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome but Essential Also for Other Cholesterolopathies Verification\u2019. Ginekologia Polska, vol. 91, no. 5, May 2020, pp. 287\u201393. DOI.org (Crossref), https:\/\/doi.org\/10.5603\/GP.2020.0049.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.62087\">Zalewski, Christopher K., et al. \u2018Auditory Phenotype of Smith\u2013Lemli\u2013Opitz Syndrome\u2019. American Journal of Medical Genetics Part A, vol. 185, no. 4, Apr. 2021, pp. 1131\u201341. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/ajmg.a.62087.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.63875\">Selvaraman, Aishwarya, et al. \u2018Assessing Postnatal Mortality in Smith\u2013Lemli\u2013Opitz Syndrome\u2019. American Journal of Medical Genetics Part A, vol. 197, no. 2, Feb. 2025, p. e63875. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/ajmg.a.63875.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.jaapos.2022.11.007\">L\u00f3pez-Ca\u00f1izares, Ashley, et al. \u2018Smith-Lemli-Optiz Syndrome: Importance of Ophthalmology Referral and Follow-Up\u2019. Journal of American Association for Pediatric Ophthalmology and Strabismus, vol. 27, no. 2, Apr. 2023, pp. 100\u201302. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.jaapos.2022.11.007.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1515\/jpem-2017-0501\">Donoghue, Sarah E., et al. \u2018Smith-Lemli-Opitz Syndrome: Clinical and Biochemical Correlates\u2019. Journal of Pediatric Endocrinology and Metabolism, vol. 31, no. 4, Mar. 2018, pp. 451\u201359. DOI.org (Crossref), https:\/\/doi.org\/10.1515\/jpem-2017-0501.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.38361\">Movassaghi, Miyad, et al. \u2018Vitamin D Levels in Smith\u2010Lemli\u2010Opitz Syndrome\u2019. American Journal of Medical Genetics Part A, vol. 173, no. 10, Oct. 2017, pp. 2577\u201383. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/ajmg.a.38361.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.5018\">Lazarin, Gabriel A., et al. \u2018Smith\u2013Lemli\u2013Opitz Syndrome Carrier Frequency and Estimates of in Utero Mortality Rates\u2019. Prenatal Diagnosis, vol. 37, no. 4, Apr. 2017, pp. 350\u201355. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/pd.5018.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1143\/\">Nowaczyk MJM, Wassif CA. Smith-Lemli-Opitz Syndrome. 1998 Nov 13 [Updated 2020 Jan 30]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1143\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4, SLOS, DHCR7, 7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb, 8-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb, \u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4ee3\u8b1d, \u5148\u5929\u5947\u5f62, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u5c0f\u982d\u75c7, \u5408\u6307\u75c7, \u591a\u6307\u75c7, \u5c3f\u9053\u4e0b\u88c2, \u524d\u8133\u7652\u5408\u75c7, \u53e3\u84cb\u88c2, \u526f\u814e\u4e0d\u5168, 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