{"id":122874,"date":"2026-01-15T12:46:37","date_gmt":"2026-01-15T03:46:37","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122874"},"modified":"2026-07-09T14:04:05","modified_gmt":"2026-07-09T05:04:05","slug":"cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/","title":{"rendered":"Cornelia de Lange syndrome 3"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88CdLS%E5%85%B1%E9%80%9A%EF%BC%89\" >\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08CdLS\u5171\u901a\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BD%9CCdLS5%E3%83%BBCdLS2%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >\u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff5cCdLS5\u30fbCdLS2\u3068\u306e\u9055\u3044<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E7%A4%BE%E4%BC%9A%E7%9A%84%E9%81%A9%E5%BF%9C\" >\u793e\u4f1a\u7684\u9069\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#CdLS5%EF%BC%88HDAC8%EF%BC%89%E3%83%BBCdLS2%EF%BC%88SMC1A%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\" >CdLS5\uff08HDAC8\uff09\u30fbCdLS2\uff08SMC1A\uff09\u3068\u306e\u9055\u3044<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%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\" >\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_%E3%82%B3%E3%83%AB%E3%83%8D%E3%83%AA%E3%82%A2%E3%83%BB%E3%83%87%E3%83%BB%E3%83%A9%E3%83%B3%E3%82%B2%E7%97%87%E5%80%99%E7%BE%A43%E5%9E%8B%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_NIPT%E3%81%A7%E3%82%B3%E3%83%AB%E3%83%8D%E3%83%AA%E3%82%A2%E3%83%BB%E3%83%87%E3%83%BB%E3%83%A9%E3%83%B3%E3%82%B2%E7%97%87%E5%80%99%E7%BE%A43%E5%9E%8B%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. NIPT\u3067\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_CdLS3%E3%81%A8CdLS1%EF%BC%88NIPBL%E5%A4%89%E7%95%B0%E5%9E%8B%EF%BC%89%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. CdLS3\u3068CdLS1\uff08NIPBL\u5909\u7570\u578b\uff09\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_CdLS3%E3%81%A8CdLS5%E3%83%BBCdLS2%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. CdLS3\u3068CdLS5\u30fbCdLS2\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_%E6%AC%A1%E3%81%AB%E7%94%9F%E3%81%BE%E3%82%8C%E3%82%8B%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u6b21\u306b\u751f\u307e\u308c\u308b\u5b50\u3069\u3082\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-3-smc3-genetics-mild-phenotype-guide\/#Q_%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u8a3a\u65ad\u306b\u306f\u3069\u3093\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B3%E3%83%AB%E3%83%8D%E3%83%AA%E3%82%A2%E3%83%BB%E3%83%87%E3%83%BB%E3%83%A9%E3%83%B3%E3%82%B2%E7%97%87%E5%80%99%E7%BE%A43%E5%9E%8B%E3%81%A8%E3%81%AF%EF%BD%9CSMC3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%92%E3%83%BC%E3%82%B7%E3%83%B3%E8%A4%87%E5%90%88%E4%BD%93\"><\/span>\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\u3068\u306f\uff5cSMC3\u907a\u4f1d\u5b50\u3068\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\uff08Cornelia de Lange syndrome 3\uff0fCdLS3\uff09\u306f\u3001\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306e\u69cb\u6210\u8981\u7d20\u3067\u3042\u308bSMC3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u300c\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u300d\u5168\u4f53\u306e\u4e2d\u3067\u306f\u3001\u5168\u75c7\u4f8b\u306e\u7d041\u301c2%\u307b\u3069\u3092\u5360\u3081\u308b\u306b\u3068\u3069\u307e\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306b\u3042\u305f\u308a\u307e\u3059\u3002\u3082\u3063\u3068\u3082\u75c7\u4f8b\u6570\u304c\u591a\u30441\u578b\uff08NIPBL\u907a\u4f1d\u5b50\u5909\u7570\uff09\u3068\u6bd4\u8f03\u3059\u308b\u3068\u3001\u8eab\u4f53\u75c7\u72b6\u3084\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u8efd\u3081\u306b\u51fa\u308b\u50be\u5411\u304c\u3042\u308a\u3001\u300c\u975e\u53e4\u5178\u7684CdLS\u300d\u306e\u4ee3\u8868\u4f8b\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"SMC3%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E3%82%B3%E3%83%92%E3%83%BC%E3%82%B7%E3%83%B3%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>SMC3\u907a\u4f1d\u5b50\u3068\u30b3\u30d2\u30fc\u30b7\u30f3\u30ea\u30f3\u30b0\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7b2c10\u67d3\u8272\u4f53\uff0810q25.2\uff09\u306b\u4f4d\u7f6e\u3059\u308bSMC3\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f53\u306e\u69cb\u9020\u7dad\u6301\u3068\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u3092\u62c5\u3046\u300c\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u300d\u306e\u9aa8\u683c\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u307e\u305a\u306f\u305d\u306e\u4ed5\u7d44\u307f\u304b\u3089\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>SMC3\u306fSMC1A\u3068\u7d50\u5408\u3057\u3001\u5927\u304d\u306aV\u5b57\u578b\u306e\u69cb\u9020\u3092\u5f62\u6210\u3057\u307e\u3059\u3002\u305d\u3053\u306bRAD21\u304c\u84cb\u306e\u3088\u3046\u306b\u52a0\u308f\u308b\u3053\u3068\u3067\u3001DNA\u3092\u30ea\u30f3\u30b0\u72b6\u306b\u56f2\u3044\u8fbc\u3080\u4ed5\u7d44\u307f\u3067\u3059\u3002CdLS3\u3067\u898b\u3089\u308c\u308b\u5909\u7570\u306e\u591a\u304f\u306f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3084\u30a4\u30f3\u30d5\u30ec\u30fc\u30e0\u6b20\u5931\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002SMC1A\uff082\u578b\uff09\u3068\u540c\u69d8\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3092\u5b8c\u5168\u306b\u5931\u3046\u5909\u7570\u306f\u80da\u306e\u81f4\u6b7b\u306b\u3064\u306a\u304c\u308b\u305f\u3081\u3001\u5b9f\u969b\u306b\u751f\u307e\u308c\u3066\u304f\u308b\u60a3\u8005\u3055\u3093\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u69cb\u9020\u304c\u308f\u305a\u304b\u306b\u5909\u5316\u3057\u305f\u72b6\u614b\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306e\u69cb\u9020\u3092\u793a\u3059\u56f3\u3002SMC1A\u3068SMC3\u304c\u9aa8\u683c\u3092\u4f5c\u308a\u3001RAD21\u304c\u84cb\u3068\u306a\u3063\u3066DNA\u3092\u56f2\u3044\u8fbc\u3080\" viewBox=\"0 0 720 260\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"260\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"38\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306e\u69cb\u9020<\/text>\n  <rect x=\"60\" y=\"65\" width=\"260\" height=\"80\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"190\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">SMC1A<\/text>\n  <text x=\"190\" y=\"125\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">V\u5b57\u306e\u7247\u5074\u306e\u9aa8\u683c<\/text>\n  <rect x=\"400\" y=\"65\" width=\"260\" height=\"80\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"530\" y=\"100\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">SMC3<\/text>\n  <text x=\"530\" y=\"125\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">V\u5b57\u306e\u3082\u3046\u7247\u5074\u306e\u9aa8\u683c<\/text>\n  <rect x=\"230\" y=\"165\" width=\"260\" height=\"70\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"360\" y=\"197\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">RAD21\uff08\u84cb\uff09<\/text>\n  <text x=\"360\" y=\"220\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u30ea\u30f3\u30b0\u72b6\u306bDNA\u3092\u56f2\u3044\u8fbc\u3080<\/text>\n  <line x1=\"190\" y1=\"145\" x2=\"330\" y2=\"180\" stroke=\"#c98aa3\" stroke-width=\"3\"\/>\n  <line x1=\"530\" y1=\"145\" x2=\"390\" y2=\"180\" stroke=\"#c98aa3\" stroke-width=\"3\"\/>\n<\/svg>\n<figcaption>SMC1A\u30fbSMC3\u30fbRAD21\u304c\u7d44\u307f\u5408\u308f\u3055\u3063\u3066DNA\u3092\u56f2\u3080\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BD%9C%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E7%94%9F%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\uff5c\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CdLS3\u306e\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3067\u3059\u3002\u5b9f\u969b\u306e\u767a\u751f\u30d1\u30bf\u30fc\u30f3\u3092\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306f\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002\u4e21\u89aa\u306b\u75c7\u72b6\u304c\u306a\u304f\u3001\u304a\u5b50\u3055\u3093\u306b\u3060\u3051\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u305f\u3060\u3057\u7a00\u306b\u3001\u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u6301\u3064\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u3082\u8003\u616e\u3055\u308c\u307e\u3059\u3002\u6b63\u78ba\u306a\u907a\u4f1d\u5f62\u5f0f\u306e\u628a\u63e1\u3002\u3053\u308c\u304c\u3001\u6b21\u5b50\u306e\u518d\u767a\u30ea\u30b9\u30af\u3092\u8003\u3048\u308b\u3046\u3048\u3067\u306e\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BD%9C%E3%83%9E%E3%82%A4%E3%83%AB%E3%83%89%E3%81%AA%E3%80%8C%E9%9D%9E%E5%8F%A4%E5%85%B8%E7%9A%84CdLS%E3%80%8D%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u81e8\u5e8a\u7684\u7279\u5fb4\uff5c\u30de\u30a4\u30eb\u30c9\u306a\u300c\u975e\u53e4\u5178\u7684CdLS\u300d\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CdLS3\u306f\u3001\u53e4\u5178\u7684\u306a1\u578b\u3068\u6bd4\u3079\u3066\u9854\u7acb\u3061\u3084\u9aa8\u683c\u306e\u7279\u5fb4\u304c\u63a7\u3048\u3081\u306b\u51fa\u308b\u4e00\u65b9\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306f\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7bc4\u56f2\u3067\u6b8b\u308a\u307e\u3059\u3002<\/strong>\u7279\u5fb4\u304c\u76ee\u7acb\u305f\u306a\u3044\u5206\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u306f\u6c17\u3065\u304b\u308c\u306b\u304f\u3044\u70b9\u306b\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E8%B2%8C%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span><strong>\u9854\u8c8c\u306e\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CdLS1\u306b\u898b\u3089\u308c\u308b\u300c\u7709\u6bdb\u7652\u5408\u300d\u3084\u300c\u9577\u3044\u776b\u6bdb\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u306f\u3001CdLS3\u306b\u3082\u5171\u901a\u3057\u3066\u898b\u3089\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u73fe\u308c\u65b9\u306b\u306f\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7709\u6bdb:<\/strong> \u5de6\u53f3\u304c\u5b8c\u5168\u306b\u306f\u3064\u306a\u304c\u3089\u305a\u3001\u5c11\u3057\u96e2\u308c\u3066\u3044\u305f\u308a\u8584\u304b\u3063\u305f\u308a\u3059\u308b\u4f8b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9f3b\u3068\u53e3:<\/strong> \u9f3b\u5b54\u304c\u4e0a\u5411\u304d\u3060\u3063\u305f\u308a\u4eba\u4e2d\u304c\u9577\u304b\u3063\u305f\u308a\u3059\u308b\u7279\u5fb4\u3082\u3001\u4e00\u898b\u3057\u305f\u3060\u3051\u3067\u306f\u5206\u304b\u3089\u306a\u3044\u307b\u3069\u5fae\u7d30\u306a\u4f8b\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%AA%A8%E6%A0%BC%E3%83%BB%E8%BA%AB%E4%BD%93%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>\u9aa8\u683c\u30fb\u8eab\u4f53\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9aa8\u683c\u306e\u7279\u5fb4\u306b\u3064\u3044\u3066\u3082\u3001CdLS1\u3088\u308a\u8efd\u3044\u50be\u5411\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CdLS1\u3067\u3057\u3070\u3057\u3070\u898b\u3089\u308c\u308b\u524d\u8155\u306e\u6b20\u640d\u3084\u91cd\u5ea6\u306e\u624b\u6307\u7570\u5e38\u306f\u3001CdLS3\u3067\u306f\u6975\u3081\u3066\u7a00\u3067\u3059\u3002\u6210\u9577\u969c\u5bb3\uff08\u4f4e\u8eab\u9577\u3084\u5c0f\u982d\u75c7\uff09\u81ea\u4f53\u306f\u8a8d\u3081\u3089\u308c\u307e\u3059\u304c\u30011\u578b\u306b\u6bd4\u3079\u308b\u3068\u6210\u9577\u66f2\u7dda\u306b\u8fd1\u3044\u4f4d\u7f6e\u3067\u63a8\u79fb\u3059\u308b\u4f8b\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%A8%E7%9F%A5%E7%9A%84%E6%A9%9F%E8%83%BD\"><\/span><strong>\u767a\u9054\u3068\u77e5\u7684\u6a5f\u80fd<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u77e5\u7684\u767a\u9054\u306e\u9762\u306b\u3082\u30011\u578b\u3068\u306e\u9055\u3044\u304c\u8868\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u7a0b\u5ea6\u306f\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u306f\u898b\u3089\u308c\u308b\u3082\u306e\u306e\u30011\u578b\u3068\u6bd4\u8f03\u3059\u308b\u3068\u3001\u8a71\u3057\u8a00\u8449\uff08\u8868\u51fa\u8a00\u8a9e\uff09\u3092\u7372\u5f97\u3067\u304d\u308b\u5272\u5408\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%81%A8NIPT%E3%81%AE%E5%AF%BE%E8%B1%A1%E7%AF%84%E5%9B%B2%EF%BD%9C%E3%81%AA%E3%81%9CCdLS3%E3%81%AF%E5%9F%BA%E6%9C%AC%E7%9A%84%E3%81%AB%E5%AF%BE%E8%B1%A1%E5%A4%96%E3%81%AA%E3%81%AE%E3%81%8B\"><\/span>\u51fa\u751f\u524d\u8a3a\u65ad\u3068NIPT\u306e\u5bfe\u8c61\u7bc4\u56f2\uff5c\u306a\u305cCdLS3\u306f\u57fa\u672c\u7684\u306b\u5bfe\u8c61\u5916\u306a\u306e\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u3001\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001CdLS3\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u57fa\u672c\u7684\u306b\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u305b\u3093\u3002<\/strong>NIPT\u306e\u4f4d\u7f6e\u3065\u3051\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3066\u304a\u304f\u3053\u3068\u304c\u3001\u691c\u67fb\u9078\u3073\u306e\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u7bc4\u56f2\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u308f\u304b\u308b\u75c5\u6c17\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/\">NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u306e\u57fa\u672c\u30ac\u30a4\u30c9<\/a>\u3082\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4<\/a>\u306a\u3069\u67d3\u8272\u4f53\u6570\u7684\u7570\u5e38\u306e\u30ea\u30b9\u30af\u3092\u8abf\u3079\u305f\u3044\u65b9\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/down-syndrome-pregnancy-risk-test\/\">\u30c0\u30a6\u30f3\u75c7\u5019\u7fa4\u3068\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u51fa\u751f\u524d\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u3067\u60a9\u3080\u65b9\u306f\u3001\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u79c1\u306f\u76f8\u8ac7\u306e\u5834\u3067\u3001\u8ff7\u3063\u305f\u672b\u306b\u691c\u67fb\u3092\u53d7\u3051\u3066\u5b89\u5fc3\u3057\u305f\u3001\u3068\u3044\u3046\u58f0\u3092\u6570\u591a\u304f\u805e\u3044\u3066\u304d\u307e\u3057\u305f\u3002X\u3067\u3082<a href=\"https:\/\/x.com\/sisisi195275806\" target=\"_blank\" rel=\"noopener\">@sisisi195275806<\/a>\u3055\u3093\u304c\u3001NIPT\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u5f37\u304f\u8ff7\u3063\u305f\u3082\u306e\u306e\u3001\u7d50\u679c\u7684\u306b\u53d7\u3051\u3066\u9670\u6027\u3060\u3063\u305f\u3068\u3044\u3046\u4f53\u9a13\u3092\u3064\u3065\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u300c\u7d76\u5bfe\u306b\u53d7\u3051\u308b\u3068\u601d\u3063\u3066\u3044\u305f\u306e\u306b\u3001\u3044\u3056\u598a\u5a20\u3059\u308b\u3068\u53d7\u3051\u308b\u304b\u3059\u3054\u304f\u8ff7\u3063\u305f\u3002\u3067\u3082\u53d7\u3051\u3066\u826f\u304b\u3063\u305f\u300d\u3068\u3044\u3046\u7387\u76f4\u306a\u8a00\u8449\u304c\u5370\u8c61\u7684\u3067\u3059\u3002\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u306e\u8ff7\u3044\u306f\u3001\u591a\u304f\u306e\u65b9\u306b\u5171\u901a\u3059\u308b\u81ea\u7136\u306a\u5fc3\u306e\u52d5\u304d\u3060\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CdLS3\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u3092\u78ba\u5b9a\u3059\u308b\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff08CVS\uff09\u3092\u901a\u3058\u305f\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3001\u5177\u4f53\u7684\u306b\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3084\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002\u5bb6\u65cf\u6b74\u3084\u30a8\u30b3\u30fc\u3067\u306e\u6240\u898b\u304b\u3089\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7523\u79d1\u533b\u3068\u76f8\u8ac7\u3057\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u305f\u3046\u3048\u3067\u691c\u67fb\u65b9\u91dd\u3092\u6c7a\u3081\u3066\u304f\u3060\u3055\u3044\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=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E5%AE%9F%E9%9A%9B%EF%BD%9C%E8%87%A8%E5%BA%8A%E3%82%B9%E3%82%B3%E3%82%A2%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB\"><\/span>\u8a3a\u65ad\u306e\u5b9f\u969b\uff5c\u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u3068\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CdLS3\u306f\u56fd\u969b\u7684\u306a\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u306e\u30b9\u30b3\u30a2\u304c\u4f4e\u304f\u51fa\u3084\u3059\u3044\u305f\u3081\u3001\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3060\u3051\u3067\u8a3a\u65ad\u3092\u4e0b\u3059\u3053\u3068\u306f\u5bb9\u6613\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305d\u306e\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e\u767a\u9054\u9045\u6ede\u3068\u3057\u3066\u7d4c\u904e\u3092\u898b\u3089\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%A8%E5%BA%8A%E3%82%B9%E3%82%B3%E3%82%A2%E3%83%AA%E3%83%B3%E3%82%B0%E3%81%AE%E9%99%90%E7%95%8C\"><\/span><strong>\u81e8\u5e8a\u30b9\u30b3\u30a2\u30ea\u30f3\u30b0\u306e\u9650\u754c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56fd\u969b\u7684\u306aCdLS\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u3067\u306f\u3001CdLS3\u306f\u300c\u975e\u53e4\u5178\u7684CdLS\u300d\u306e\u70b9\u6570\u57df\uff089\u301c10\u70b9\u4ee5\u4e0b\uff09\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u304c\u63a7\u3048\u3081\u3067\u3042\u308b\u307b\u3069\u3001\u8eab\u4f53\u6240\u898b\u3060\u3051\u3067\u306e\u5224\u65ad\u306f\u96e3\u3057\u304f\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u88cf\u3065\u3051\u3053\u305d\u304c\u3001\u8a3a\u65ad\u78ba\u5b9a\u306e\u6c7a\u3081\u624b\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB%E3%81%AE%E5%BD%B9%E5%89%B2\"><\/span><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u5f79\u5272<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SMC3\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306f\u3001CdLS\u306e\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u308c\u3070\u3001NIPBL\u30fbSMC1A\u30fbRAD21\u30fbHDAC8\u3068\u3044\u3063\u305f\u4ed6\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u540c\u6642\u306b\u89e3\u6790\u3057\u3001\u5fae\u7d30\u306a\u5909\u7570\u307e\u3067\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002\u6b63\u78ba\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u7279\u5b9a\u306f\u3001\u5c06\u6765\u306e\u5408\u4f75\u75c7\u4e88\u6e2c\u3084\u3001\u5bb6\u65cf\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306e\u8aac\u660e\u306b\u304a\u3044\u3066\u6c7a\u5b9a\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3066\u521d\u3081\u3066\u3001\u65bd\u8a2d\u306b\u3088\u3063\u3066\u691c\u67fb\u306e\u5185\u5bb9\u304c\u7570\u306a\u308b\u3068\u77e5\u308b\u65b9\u3082\u3044\u307e\u3059\u3002X\u3067\u3082<a href=\"https:\/\/x.com\/okupanxc4o\" target=\"_blank\" rel=\"noopener\">@okupanxc4o<\/a>\u3055\u3093\u304c\u3001\u7523\u9662\u3067\u907a\u4f1d\u5b50\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u305f\u969b\u3001\u975e\u8a8d\u53ef\u306e\u30af\u30ea\u30cb\u30c3\u30af\u3067NIPT\u3092\u53d7\u3051\u308b\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3092\u6848\u5185\u3057\u3066\u3082\u3089\u3048\u306a\u3044\u5834\u5408\u304c\u3042\u308b\u3053\u3068\u3084\u3001\u8a8d\u5b9a\u65bd\u8a2d\u3068\u975e\u8a8d\u53ef\u65bd\u8a2d\u3068\u3067\u306f\u7cbe\u5ea6\u304c\u5fae\u5999\u306b\u7570\u306a\u308b\u3068\u8aac\u660e\u3092\u53d7\u3051\u305f\u4f53\u9a13\u3092\u3064\u3065\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u5c02\u9580\u5bb6\u304b\u3089\u76f4\u63a5\u8aac\u660e\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u691c\u67fb\u9078\u3073\u306e\u898b\u901a\u3057\u304c\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u79c1\u306f\u3053\u3046\u3057\u305f\u58f0\u306b\u89e6\u308c\u308b\u305f\u3073\u306b\u3001\u5c02\u9580\u7684\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u610f\u7fa9\u3092\u6539\u3081\u3066\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u5e2b\u306b\u76f8\u8ac7\u3059\u308b\u598a\u5a66\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-119511\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%A1%E7%90%86%E3%81%A8%E6%B2%BB%E7%99%82%E6%96%B9%E9%87%9D%EF%BD%9CQOL%E3%81%AE%E6%9C%80%E5%A4%A7%E5%8C%96%E3%82%92%E7%9B%AE%E6%8C%87%E3%81%97%E3%81%A6\"><\/span>\u7ba1\u7406\u3068\u6cbb\u7642\u65b9\u91dd\uff5cQOL\u306e\u6700\u5927\u5316\u3092\u76ee\u6307\u3057\u3066<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CdLS3\u306f\u4ed6\u306e\u30bf\u30a4\u30d7\u3068\u6bd4\u3079\u3066\u767a\u9054\u4e88\u5f8c\u304c\u6bd4\u8f03\u7684\u826f\u597d\u3067\u3042\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u5927\u304d\u306a\u52b9\u679c\u3092\u767a\u63ee\u3057\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u5f8c\u306b\u3067\u304d\u308b\u3053\u3068\u3092\u3001\u5177\u4f53\u7684\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%82%E8%82%B2%E3%81%A8%E6%95%99%E8%82%B2%EF%BC%88%E6%9C%80%E5%84%AA%E5%85%88%EF%BC%89\"><\/span><strong>\u7642\u80b2\u3068\u6559\u80b2\uff08\u6700\u512a\u5148\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3066\u306f\u3001\u65e9\u671f\u304b\u3089\u306e\u8907\u5408\u7684\u306a\u652f\u63f4\u304c\u571f\u53f0\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165:<\/strong> \u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u65e9\u671f\u7642\u80b2\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u500b\u5225\u6559\u80b2\u652f\u63f4:<\/strong> \u8a8d\u77e5\u80fd\u529b\u306e\u5e45\u304c\u5e83\u3044\u305f\u3081\u3001\u5f97\u610f\u5206\u91ce\u3092\u4f38\u3070\u3059\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u30ab\u30b9\u30bf\u30de\u30a4\u30ba\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%EF%BC%88CdLS%E5%85%B1%E9%80%9A%EF%BC%89\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08CdLS\u5171\u901a\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8efd\u75c7\u578b\u3067\u3042\u3063\u3066\u3082\u3001\u4ee5\u4e0b\u306e\u5408\u4f75\u75c7\u306b\u306f\u6ce8\u610f\u3092\u7d9a\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u5408\u4f75\u75c7<\/th><th>\u6ce8\u610f\u70b9<\/th><\/tr><\/thead><tbody><tr><td>\u6d88\u5316\u5668\uff08GERD\uff09<\/td><td>1\u578b\u307b\u3069\u91cd\u304f\u306a\u308a\u306b\u304f\u3044\u3082\u306e\u306e\u3001\u4e0d\u6a5f\u5acc\u3084\u98df\u6b32\u4e0d\u632f\u306e\u88cf\u306b\u96a0\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/td><\/tr><tr><td>\u611f\u899a\u5668<\/td><td>\u96e3\u8074\u3084\u8fd1\u8996\u30fb\u4e71\u8996\u306a\u3069\u8996\u529b\u7570\u5e38\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u304c\u5fc5\u8981\u3067\u3059<\/td><\/tr><tr><td>\u5faa\u74b0\u5668<\/td><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u307e\u3059<\/td><\/tr><\/tbody><\/table><figcaption>CdLS3\u3067\u6ce8\u610f\u3057\u305f\u3044\u5408\u4f75\u75c7\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u4e00\u89a7<\/figcaption><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%EF%BD%9CCdLS5%E3%83%BBCdLS2%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span>\u4e88\u5f8c\u3068\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\uff5cCdLS5\u30fbCdLS2\u3068\u306e\u9055\u3044<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CdLS3\u306e\u767a\u9054\u4e88\u5f8c\u306f\u4ed6\u306e\u30bf\u30a4\u30d7\u3068\u6bd4\u3079\u3066\u826f\u597d\u306a\u50be\u5411\u306b\u3042\u308a\u3001\u6210\u4eba\u671f\u306b\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u306e\u4e00\u90e8\u3092\u55b6\u3080\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/strong>\u6b63\u78ba\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u8a3a\u65ad\u306f\u3001\u5bb6\u65cf\u304c\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u3046\u3048\u3067\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A4%BE%E4%BC%9A%E7%9A%84%E9%81%A9%E5%BF%9C\"><\/span><strong>\u793e\u4f1a\u7684\u9069\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a00\u8449\u306e\u7406\u89e3\u529b\u304c\u9ad8\u304f\u3001\u5bfe\u4eba\u95a2\u4fc2\u3067\u826f\u597d\u306a\u793e\u4f1a\u6027\u3092\u767a\u63ee\u3059\u308b\u4f8b\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5bb6\u65cf\u3084\u5b66\u6821\u304c\u65e9\u3044\u6bb5\u968e\u3067\u305d\u306e\u5b50\u306e\u5f37\u307f\u3092\u7406\u89e3\u3057\u3001\u81ea\u5df1\u80af\u5b9a\u611f\u3092\u80b2\u3080\u3053\u3068\u3002\u3053\u308c\u304c\u3001\u9577\u671f\u7684\u306aQOL\u5411\u4e0a\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3068\u3001\u5bb6\u65cf\u306e\u7406\u89e3\u3002\u3053\u306e\u4e8c\u3064\u304c\u63c3\u3046\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"CdLS5%EF%BC%88HDAC8%EF%BC%89%E3%83%BBCdLS2%EF%BC%88SMC1A%EF%BC%89%E3%81%A8%E3%81%AE%E9%81%95%E3%81%84\"><\/span><strong>CdLS5\uff08HDAC8\uff09\u30fbCdLS2\uff08SMC1A\uff09\u3068\u306e\u9055\u3044<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u306b\u306f\u8907\u6570\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3042\u308a\u3001\u30bf\u30a4\u30d7\u306b\u3088\u3063\u3066\u907a\u4f1d\u5f62\u5f0f\u3084\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>CdLS3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306fSMC3\u3067\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3001\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u4e00\u65b9\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-5-hdac8-genetics-x-linked-guide\/\">CdLS5\uff08HDAC8\u907a\u4f1d\u5b50\u5909\u7570\u578b\uff09<\/a>\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cornelia-de-lange-syndrome-2-smc1a-genetics-x-linked-guide\/\">CdLS2\uff08SMC1A\u907a\u4f1d\u5b50\u5909\u7570\u578b\uff09<\/a>\u306f\u3001\u3044\u305a\u308c\u3082X\u9023\u9396\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u70b9\u304cCdLS3\u3068\u306e\u5927\u304d\u306a\u9055\u3044\u3067\u3059\u3002\u540c\u3058CdLS\u3068\u3044\u3046\u67a0\u7d44\u307f\u306e\u4e2d\u3067\u3082\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u907a\u4f1d\u5f62\u5f0f\u3084\u75c7\u72b6\u306e\u91cd\u3055\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u30b5\u30d6\u30bf\u30a4\u30d7\u304c\u3042\u308c\u3070\u3001\u305d\u308c\u305e\u308c\u306e\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u30bf\u30a4\u30d7\u306e\u6bd4\u8f03\u56f3\u30021\u578bNIPBL\u30012\u578bSMC1A\u30013\u578bSMC3\u30015\u578bHDAC8\" viewBox=\"0 0 720 300\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" style=\"max-width:720px;width:100%;height:auto;font-family:sans-serif;\">\n  <rect x=\"0\" y=\"0\" width=\"720\" height=\"300\" fill=\"#fff9fb\"\/>\n  <text x=\"360\" y=\"36\" text-anchor=\"middle\" font-size=\"20\" fill=\"#5a2b3a\">\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u30bf\u30a4\u30d7\u306e\u6bd4\u8f03<\/text>\n  <rect x=\"40\" y=\"58\" width=\"310\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"195\" y=\"90\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">1\u578b\uff08NIPBL\uff09<\/text>\n  <text x=\"195\" y=\"115\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5e38\u67d3\u8272\u4f53\u9855\u6027\u30fb\u75c7\u72b6\u304c\u91cd\u3081<\/text>\n  <rect x=\"370\" y=\"58\" width=\"310\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"525\" y=\"90\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">2\u578b\uff08SMC1A\uff09<\/text>\n  <text x=\"525\" y=\"115\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">X\u9023\u9396\u6027\u30fb\u75c7\u72b6\u306f\u591a\u69d8<\/text>\n  <rect x=\"40\" y=\"170\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#f6b8cd\"\/>\n  <text x=\"195\" y=\"202\" text-anchor=\"middle\" font-size=\"17\" fill=\"#5a2b3a\">3\u578b\uff08SMC3\uff09\uff1d\u672c\u8a18\u4e8b<\/text>\n  <text x=\"195\" y=\"228\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">\u5e38\u67d3\u8272\u4f53\u9855\u6027\u30fb\u75c7\u72b6\u306f\u8efd\u3081<\/text>\n  <rect x=\"370\" y=\"170\" width=\"310\" height=\"95\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"525\" y=\"202\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">5\u578b\uff08HDAC8\uff09<\/text>\n  <text x=\"525\" y=\"228\" text-anchor=\"middle\" font-size=\"13\" fill=\"#5a2b3a\">X\u9023\u9396\u6027\u30fb\u75c7\u72b6\u306f\u591a\u69d8<\/text>\n<\/svg>\n<figcaption>\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u30bf\u30a4\u30d7\u5225\u306e\u907a\u4f1d\u5f62\u5f0f\u30fb\u75c7\u72b6\u50be\u5411\u306e\u6bd4\u8f03<\/figcaption>\n<\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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\"><\/span><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f1%\u672a\u6e80\u3068\u3055\u308c\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u540d\u304c\u3042\u308b\u3053\u3068\u3067\u3001\u5bb6\u65cf\u306f\u5c06\u6765\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3068\u3064\u306a\u304c\u308b\u52a9\u3051\u306b\u3082\u306a\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3084<a href=\"https:\/\/www.shouman.jp\/\" target=\"_blank\" rel=\"noopener\">\u5c0f\u5150\u6162\u6027\u7279\u5b9a\u75be\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3001<a href=\"https:\/\/www.jsog.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a<\/a>\u3068\u3044\u3063\u305f\u516c\u7684\u306a\u60c5\u5831\u6e90\u3082\u3001\u5bb6\u65cf\u304c\u6b63\u78ba\u306a\u60c5\u5831\u306b\u3042\u305f\u308b\u305f\u3081\u306e\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\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\/\" 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;\">\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%82%B3%E3%83%AB%E3%83%8D%E3%83%AA%E3%82%A2%E3%83%BB%E3%83%87%E3%83%BB%E3%83%A9%E3%83%B3%E3%82%B2%E7%97%87%E5%80%99%E7%BE%A43%E5%9E%8B%E3%81%A8%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\u3068\u306f\u3069\u3093\u306a\u75c5\u6c17\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SMC3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3001\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\uff08CdLS\uff09\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u3067\u3059\u3002\u5168CdLS\u75c7\u4f8b\u306e\u7d041\u301c2%\u3092\u5360\u3081\u308b\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3001\u3082\u3063\u3068\u3082\u75c7\u4f8b\u6570\u304c\u591a\u30441\u578b\uff08NIPBL\u5909\u7570\uff09\u3068\u6bd4\u3079\u3066\u3001\u9854\u7acb\u3061\u3084\u9aa8\u683c\u306e\u7279\u5fb4\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u8efd\u3081\u306b\u51fa\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u5fb4\u304c\u63a7\u3048\u3081\u306a\u5206\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_NIPT%E3%81%A7%E3%82%B3%E3%83%AB%E3%83%8D%E3%83%AA%E3%82%A2%E3%83%BB%E3%83%87%E3%83%BB%E3%83%A9%E3%83%B3%E3%82%B2%E7%97%87%E5%80%99%E7%BE%A43%E5%9E%8B%E3%81%AF%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. NIPT\u3067\u30b3\u30eb\u30cd\u30ea\u30a2\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa43\u578b\u306f\u308f\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NIPT\u306f\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u3067\u3042\u308a\u3001CdLS3\u306e\u3088\u3046\u306a\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\u306f\u57fa\u672c\u7684\u306b\u5bfe\u8c61\u5916\u3067\u3059\u3002CdLS3\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3092\u901a\u3058\u305f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3084\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u3068\u3044\u3063\u305f\u5c02\u9580\u7684\u306a\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_CdLS3%E3%81%A8CdLS1%EF%BC%88NIPBL%E5%A4%89%E7%95%B0%E5%9E%8B%EF%BC%89%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. CdLS3\u3068CdLS1\uff08NIPBL\u5909\u7570\u578b\uff09\u306f\u4f55\u304c\u9055\u3044\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3069\u3061\u3089\u3082\u30b3\u30fc\u30cd\u30eb\u30fb\u30c7\u30fb\u30e9\u30f3\u30b2\u75c7\u5019\u7fa4\u3067\u3059\u304c\u3001CdLS3\u306e\u307b\u3046\u304c\u9854\u7acb\u3061\u3084\u9aa8\u683c\u306e\u7279\u5fb4\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u304c\u8efd\u3081\u306b\u51fa\u308b\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002\u56fd\u969b\u7684\u306a\u81e8\u5e8a\u8a3a\u65ad\u57fa\u6e96\u3067\u3082CdLS3\u306f\u300c\u975e\u53e4\u5178\u7684CdLS\u300d\u306e\u70b9\u6570\u57df\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u8eab\u4f53\u6240\u898b\u3060\u3051\u3067\u306f\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u305f\u3081\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308b\u78ba\u8a8d\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_CdLS3%E3%81%A8CdLS5%E3%83%BBCdLS2%E3%81%AE%E9%81%95%E3%81%84%E3%81%AF%E4%BD%95%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. CdLS3\u3068CdLS5\u30fbCdLS2\u306e\u9055\u3044\u306f\u4f55\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CdLS3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306fSMC3\u3067\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u3001\u591a\u304f\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u4e00\u65b9CdLS5\uff08HDAC8\u5909\u7570\u578b\uff09\u3068CdLS2\uff08SMC1A\u5909\u7570\u578b\uff09\u306f\u3001\u3044\u305a\u308c\u3082X\u9023\u9396\u6027\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u70b9\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u3054\u3068\u306b\u907a\u4f1d\u5f62\u5f0f\u3084\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5909\u308f\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u7279\u5b9a\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%AC%A1%E3%81%AB%E7%94%9F%E3%81%BE%E3%82%8C%E3%82%8B%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E9%81%BA%E4%BC%9D%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u6b21\u306b\u751f\u307e\u308c\u308b\u5b50\u3069\u3082\u306b\u3082\u907a\u4f1d\u3057\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3042\u308b\u5834\u5408\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u6975\u3081\u3066\u4f4e\u304f\u30011%\u672a\u6e80\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u7a00\u306b\u3001\u4f53\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u6301\u3064\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u53ef\u80fd\u6027\u3082\u8003\u616e\u3055\u308c\u308b\u305f\u3081\u3001\u6b63\u78ba\u306a\u907a\u4f1d\u5f62\u5f0f\u306e\u78ba\u8a8d\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A8%BA%E6%96%AD%E3%81%AB%E3%81%AF%E3%81%A9%E3%82%93%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%8C%E5%BF%85%E8%A6%81%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u8a3a\u65ad\u306b\u306f\u3069\u3093\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>SMC3\u907a\u4f1d\u5b50\u3092\u542b\u3080\u5305\u62ec\u7684\u306a\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306b\u3088\u308a\u3001NIPBL\u30fbSMC1A\u30fbRAD21\u30fbHDAC8\u3068\u3044\u3063\u305f\u4ed6\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u540c\u6642\u306b\u89e3\u6790\u3057\u3001\u5fae\u7d30\u306a\u5909\u7570\u307e\u3067\u7279\u5b9a\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u691c\u4f53\u3092\u3082\u3068\u306b\u3001\u5c02\u9580\u6a5f\u95a2\u3067\u89e3\u6790\u3092\u884c\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid 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