{"id":47631,"date":"2021-10-29T18:52:08","date_gmt":"2021-10-29T09:52:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/"},"modified":"2025-08-11T14:53:35","modified_gmt":"2025-08-11T05:53:35","slug":"japanese-mothers-aged-35-and-older","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans","title":{"rendered":"\u5bf935\u5c81\u4ee5\u4e0a\u7684\u65e5\u672c\u6bcd\u4eb2\u8fdb\u884c\u6000\u5b55\u7b2c2\u671f\u7f8a\u819c\u7a7f\u523a\u65f6\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5e74\u9f84\u7279\u5f02\u6027\u53d1\u751f\u7387:5484\u4f8b\u7684\u5408\u4f5c\u7814\u7a76"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>JB .H Juomch Gimesneent e(t1 9a9l.8: )S 4te3t:t8e5r-ia9 0hydrogenophila \u00a9 Jpn Soc Hum Genet and Springer-Verlag 198958<\/p>\n\n\n\n<p>\u539f\u8457<\/p>\n\n\n\n<p>Nobuo Yaegashi \u00b7 Masato Senoo \u00b7 Shigeki Uehara<br>Hisako Suzuki \u00b7 Tohru Maeda \u00b7 Keiya Fujimori<br>Fumiki Hirahara \u00b7 Akira Yajima<\/p>\n\n\n\n<p>\u53d7\u9818:1997\u5e747\u670823\u65e5\/\u53d7\u7406:1997\u5e7412\u67081\u65e5<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\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 class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><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-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E6%91%98%E8%A6%81\" >\u6458\u8981<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E5%AD%97\" >\u5173\u952e\u5b57<\/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-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E7%AE%80%E4%BB%8B\" >\u7b80\u4ecb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\" >\u6750\u6599\u548c\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E7%BB%93%E6%9E%9C\" >\u7ed3\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%91%98%E8%A6%81\"><\/span><strong>\u6458\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u672c\u7814\u7a76\u7684\u76ee\u7684\u662f\u8ba1\u7b9735\u5c81\u4ee5\u4e0a\u65e5\u672c\u5987\u5973\u5728\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u53d1\u73b0<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9884\u6d4b\u53d1\u751f\u7387\u3002\u6765\u81ea\u65e5\u672c4\u5bb6\u8bca\u6240\u7684\u7814\u7a76\u4eba\u5458\u6536\u96c6\u4e865484\u540d\u5b55\u5987\u7684\u9057\u4f20\u57fa\u56e0\u7f8a\u6c34\u68c0\u6d4b\u6570\u636e,\u5176\u4e2d\u53ea\u6709\u5e74\u9f84\u8d85\u8fc735\u5c81\u7684\u5b55\u5987\u624d\u6709\u98ce\u9669\u3002\u4f7f\u7528\u903b\u8f91\u56de\u5f52\u6a21\u578b\u5206\u6790\u6570\u636e\u3002\u57285484\u4e2a\u80ce\u513f\u4e2d\uff0c\u6709117\u4e2a (2.1%) \u88ab\u8bca\u65ad\u4e3a\u67d3\u8272\u4f53\u5f02\u5e38\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u8be6\u7ec6\u60c5\u51b5\u4e3a21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c742\u4f8b\u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c713\u4f8b\u300113\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c77\u4f8b\u300147\u3001XXY10\u4f8b\u300147\u3001XXX4\u4f8b\u300147\u3001XYY1\u4f8b\u3001\u5404\u79cd\u7ed3\u6784\u5f02\u5e3827\u4f8b\u3001\u5404\u79cd\u7c7b\u578b\u7684\u5d4c\u5408\u4f5313\u4f8b\u3002\u67d3\u8272\u4f53\u4e09\u4f5321\u3001\u81f4\u6b7b\u6027\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53(\u67d3\u8272\u4f53\u4e09\u4f5318\u548c\u67d3\u8272\u4f53\u4e09\u4f5313) \u3001\u6027\u67d3\u8272\u4f53\u7578\u53d8 (XXY\u3001XXX\u548cXYY) \u7684\u53d1\u751f\u7387\u90fd\u968f\u7740\u6bcd\u4eb2\u5e74\u9f84\u7684\u589e\u957f\u800c\u589e\u52a0\u3002<\/p>\n\n\n\n<p>\u8ba1\u7b97\u4e86\u56de\u5f52\u65b9\u7a0b\u7684\u53c2\u6570\u53ca\u5176\u6807\u51c6\u8bef\u5dee,\u6c42\u51fa\u4e86\u6bcf\u4e2a\u6bcd\u4eb2\u5e74\u9f84<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9884\u6d4b\u53d1\u751f\u7387\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u5f97\u51fa\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u9884\u6d4b\u53d1\u751f\u7387\u5728\u65e5\u672c\u5c1a\u5c5e\u9996\u53d1,\u6709\u52a9\u4e8e\u5b55\u5987\u7684\u5065\u5eb7\u54a8\u8be2\u300221\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u53d1\u75c5\u7387\u4e0e\u897f\u65b9\u56fd\u5bb6\u8fc7\u53bb\u516c\u5e03\u7684\u53d1\u75c5\u7387\u76f8\u540c\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u53d1\u751f\u7387\u4e0d\u53d7\u79cd\u65cf\u548c\u5730\u7406\u56e0\u7d20\u7684\u5f71\u54cd\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E5%AD%97\"><\/span><strong>\u5173\u952e\u5b57<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u6bcd\u4eb2\u9ad8\u9f84\u00b7\u7f8a\u6c34\u7a7f\u523a\u00b7<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u8bca\u65ad<\/a>\u00b7\u67d3\u8272\u4f53\u00b7\u5510\u6c0f\u7efc\u5408\u75c7<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%80%E4%BB%8B\"><\/span><strong>\u7b80\u4ecb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u4f17\u6240\u5468\u77e5\uff0c\u5510\u6c0f\u7efc\u5408\u75c7 (21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7) \u548c\u5176\u4ed6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9891\u7387\u968f\u7740\u6bcd\u4eb2\u5e74\u9f84\u7684\u589e\u957f\u800c\u589e\u52a0 (Polani\u7b49\u4eba) \u30021976\u5e74;Schreinemachers\u7b491982;\u5f17\u683c\u68ee-\u53f2\u5bc6\u65af\u548c\u8036\u83281984\u5e74;Hook\u7b49\u4eba1984) \u3002\u5987\u4ea7\u79d1\u533b\u751f\u3001\u5bb6\u5ead\u533b\u751f\u548c\u4e34\u5e8a\u9057\u4f20\u5b66\u5bb6\u6b63\u5728\u4ece\u5b55\u5987\u90a3\u91cc\u67e5\u8be2\u5176\u540e\u4ee3\u5177\u6709\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u7684\u53ef\u80fd\u6027\u3002\u4e8b\u5b9e\u4e0a\uff0c\u5373\u4f7f\u6ca1\u6709\u88ab\u8d28\u7591\uff0c\u5728\u5047\u5b9a\u7684\u9ad8\u98ce\u9669\u60c5\u51b5\u4e0b\u4e0d\u5411\u5b55\u5987\u63d0\u4f9b\u6b64\u7c7b\u4fe1\u606f\u4e5f\u88ab\u5f15\u7528\u4f5c\u4e3a\u6cd5\u5f8b\u8d23\u4efb\u7684\u57fa\u7840\u3002\u5728 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u68c0\u67e5<\/a>\u524d\u7684\u9057\u4f20\u54a8\u8be2\u4e2d\uff0c\u51c6\u786e\u4f30\u8ba1\u5b55\u5987\u5f02\u5e38\u7684\u98ce\u9669\u975e\u5e38\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u7279\u522b\u662f\u5728\u9ad8\u9f84\u5987\u5973\u4e2d,\u533b\u751f\u4f1a\u6839\u636e\u60a3\u8005\u7684\u5e74\u9f84\u6765\u9884\u6d4b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u53d1\u751f\u7387,\u5e76\u5728\u68c0\u67e5\u524d\u83b7\u5f97\u60a3\u8005\u7684\u77e5\u60c5\u540c\u610f\u3002\u4e3a\u4e86\u68c0\u67e5 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>,\u9057\u4f20\u6027\u7f8a\u819c\u7a7f\u523a\u672f\u662f\u975e\u5e38\u7cbe\u786e\u548c\u5b89\u5168\u7684,\u5e76\u4e14\u4e0d\u4f1a\u589e\u52a0\u4e27\u5931\u80ce\u513f\u6216\u635f\u4f24\u7684\u98ce\u9669,\u901a\u5e38\u5728\u6000\u5b55\u4e2d\u671f\u8fdb\u884c,\u8fd9\u662f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u8bca\u65ad<\/a>\u7684\u51e0\u79cd\u68c0\u67e5\u65b9\u6cd5\u4e4b\u4e00 (NICHD\u56fd\u5bb6\u5065\u5eb7\u7814\u7a76\u7ec4,1976) \u3002<\/p>\n\n\n\n<p>\u5728\u65e5\u672c\uff0c\u9057\u4f20\u54a8\u8be2\u548c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u68c0\u67e5<\/a>\u7684\u9700\u6c42\u660e\u663e\u589e\u52a0,\u56e0\u4e3a20\u5e74\u676535\u5c81\u4ee5\u4e0a\u7684\u5987\u5973\u6000\u5b55\u7684\u6570\u91cf\u548c\u6bd4\u4f8b\u589e\u52a0,\u5e76\u4e14\u57281995\u5e74 (1996\u5e74\u65e5\u672c\u6bcd\u5a74\u536b\u751f\u7ec4\u7ec7) \u8fbe\u5230\u4e86\u51fa\u751f\u603b\u6570\u768410%\u3002\u7136\u800c\uff0c\u54a8\u8be2<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u4f30\u7b97\u98ce\u9669\u6240\u91c7\u7528\u7684\u6570\u636e\u4e3b\u8981\u6765\u81ea\u897f\u65b9\u56fd\u5bb6,\u5982\u6b27\u6d32,\u5317\u7f8e\u548c\u6fb3\u5927\u5229\u4e9a\u3002\u7531\u4e8e\u751f\u7269\u5b66\u548c\u73af\u5883\u5dee\u5f02\u53ef\u80fd\u5f71\u54cd<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u53d1\u751f\u7387\uff0c\u6240\u4ee5\u6536\u96c6\u4ece\u65e5\u672c\u6bcd\u4eb2\u83b7\u5f97\u7684\u53ef\u7528\u6570\u636e\u4ee5\u4f30\u7b97\u6bcf\u5e74\u6bcd\u4eb2\u5e74\u9f84\u95f4\u9694\u4e2d\u6240\u6709\u663e\u7740\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u7684\u53d1\u751f\u7387\u88ab\u8ba4\u4e3a\u662f\u6709\u4ef7\u503c\u7684\u3002<\/p>\n\n\n\n<p>\u5728\u672c\u62a5\u544a\u4e2d\uff0c\u6765\u81ea\u65e5\u672c4\u5bb6\u57fa\u56e0\u8bca\u6240\u7684\u9057\u4f20\u7f8a\u6c34\u7a7f\u523a\u6570\u636e\u6536\u96c6\u6765\u81ea\u4ec5\u5728\u6bcd\u4eb2\u5e74\u9f84\u8f83\u5927\u7684\u6000\u5b55\u4e2d\u671f\u8fdb\u884c\u7684\u68c0\u67e5\u3002\u91c7\u7528Logistic\u56de\u5f52\u5206\u6790\u6bcd\u4eb2\u5e74\u9f84\u4e0e\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u53d1\u751f\u7387\u7684\u5173\u7cfb,\u5e76\u4f30\u7b97\u51fa\u65e5\u672c\u7f8a\u819c\u7a7f\u523a\u65f6\u6bcd\u4eb2\u5e74\u9f84\u5f02\u5e38\u7684\u53d1\u751f\u7387\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\"><\/span><strong>\u6750\u6599\u548c\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6536\u96c6\u4e864\u5bb6\u57fa\u56e0\u8bca\u6240\u2014\u2014\u5317\u91cc\u5927\u5b66\u533b\u9662\u3001\u798f\u5c9b\u53bf\u7acb\u5927\u5b66\u533b\u9662\u3001\u6a2a\u6ee8\u5e02\u7acb\u5927\u5b66\u533b\u9662\u3001\u4e1c\u5317\u5927\u5b66\u533b\u9662\u2014\u2014\u5728\u6000\u5b55\u540e\u671f (14~18\u5468) \u7531\u4ea7\u79d1\u533b\u751f\u8fdb\u884c\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u7f8a\u819c\u7a7f\u523a\u7684\u8d44\u6599,\u5e76\u7efc\u5408\u5404\u5bb6\u533b\u9662\u7684\u7ed3\u679c\u3002\u6839\u636e\u6700\u540e\u4e00\u6b21\u6708\u7ecf\u5468\u671f\u4f30\u7b97\u5b55\u671f,\u5e76\u901a\u8fc7\u80ce\u513f\u8d85\u58f0\u6ce2\u6d4b\u91cf\u8fdb\u884c\u6821\u6b63\u3002\u6211\u4eec\u8981\u6c42\u64b0\u7a3f\u4eba\u63d0\u4f9b\u5173\u4e8e\u53ea\u56e0\u6bcd\u4eb2\u5e74\u9f84\u800c\u68c0\u67e5\u7684\u6000\u5b55\u7684\u4fe1\u606f,\u5e76\u6392\u9664\u6dfb\u52a0\u67d3\u8272\u4f53\u8ff9\u8c61\u7684\u6000\u5b55,\u4f8b\u5982\u5148\u524d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>,\u7236\u6bcd\u7684\u67d3\u8272\u4f53\u6613\u4f4d\u3002<\/p>\n\n\n\n<p>\u7528\u542b\u670910%\u621615%\u80ce\u725b\u8840\u6e05\u7684Ham F 10\u6216Chang\u2019s\u57f9\u517b\u57fa\u57285%CO2\u4e0b\u300137\u00b0C\u4e0b\u57f9\u517b\u7f8a\u819c\u7ec6\u80de2\u5468\u4ee5\u4e0a\u3002\u6dfb\u52a0\u79cb\u6c34\u80fa\u540e,\u518d\u57f9\u517b5\u5c0f\u65f6\u63d0\u53d6\u7ec6\u80de,\u7528\u4f4e\u6e17\u6027KCl\u6eb6\u6db2 (75\u03bcmM) \u5904\u7406\u540e,\u7528\u7532\u9187\/\u918b\u9178\u56fa\u5b9a\u6db2 (3:1) \u56fa\u5b9a,\u4f7f\u5176\u9644\u7740\u5728\u8f7d\u73bb\u7247\u4e0a\u3002<\/p>\n\n\n\n<p>\u5c06\u8f7d\u73bb\u7247\u98ce\u5e72\u6216\u673a\u68b0\u5e72\u71e5\u540e,\u91c7\u7528\u6807\u51c6\u65b9\u6cd5\u8fdb\u884cG\u5e26\u5904\u7406\u3002\u672c\u6587\u6240\u7814\u7a76\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u5305\u62ec\u7ed3\u6784\u5f02\u5e38\uff0c\u4f8b\u5982\u975e\u6574\u500d\u6027\u3001\u6613\u4f4d\u548c\u5012\u4f4d\u4ee5\u53ca\u6027\u67d3\u8272\u4f53\u4e0a\u7684\u5d4c\u5408\u4f53\u73b0\u8c61\u548c\u5e38\u67d3\u8272\u4f53\u4e0a\u7684\u5d4c\u5408\u4f53\u73b0\u8c61\u3002\u7136\u800c\uff0c\u67d3\u8272\u4f53\u7ed3\u6784\u7684\u6b63\u5e38\u53d8\u4f53\uff0c\u4f8b\u59829\u53f7\u67d3\u8272\u4f53\u7684\u8fb9\u7f18\u5012\u4f4d\uff0c\u5404\u79cd\u67d3\u8272\u4f53\u4e0a\u7684\u6269\u589e\u7684\u5f02\u67d3\u8272\u8d28,\u6269\u589e\u7684\u968f\u4f53\u7b49\u88ab\u9664\u53bb\u3002\u82e5\u4e0d\u80fd\u786e\u5b9a\u5d4c\u5408\u4f53\u662f\u5426\u4e3a\u4f2a\u50cf,\u9700\u884c\u7b2c\u4e8c\u6b21\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u80ce\u513f\u62bd\u8840\u3002\u91c7\u7528y=exp (a+bx) \u516c\u5f0f\u8fdb\u884cLogistic\u56de\u5f52\u5206\u6790\uff0c\u5206\u6790\u7f8a\u819c\u7a7f\u523a\u65f6\u6bcd\u4eb2\u5e74\u9f84\u4e0e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u53d1\u751f\u7387\u5bf9\u6570\u7684\u5173\u7cfb.\u3002\u5176\u4e2dx\u4e3a\u7f8a\u819c\u7a7f\u523a\u65f6\u6bcd\u4eb2\u7684\u5e74\u9f84\uff0c y\u4e3ax\u5c81\u65f6\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u7684\u53d1\u751f\u7387\u3002\u901a\u8fc7\u6700\u5927\u4f3c\u7136\u56de\u5f52\u65b9\u6cd5\u83b7\u5f97\u53c2\u6570a\u548cb\u7684\u503c\u3002\u5f53\u8003\u8651\u6807\u51c6\u8bef\u5dee\u65f6\uff0c\u6bcd\u4eb2\u5e74\u9f84\u7cfb\u6570b\u660e\u663e\u5dee\u5f02\u4e3a0 (P&lt;0.05) \u65f6,\u8bc4\u4f30\u76f8\u5173\u6027\u4e3a\u7edf\u8ba1\u5b66\u663e\u7740\u6027\u3002\u91c7\u7528y=exp (a+bx) \uff0c\u4ee5\u6bcd\u4eb2\u6bcf\u96941\u5c81\u8ba1\u7b97\u7f8a\u819c\u7a7f\u523a\u65f6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9884\u6d4b\u53d1\u751f\u7387\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span><strong>\u7ed3\u679c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u88681<\/strong>\u663e\u793a\u4e865484\u4f8b\u6000\u5b55\u671f\u95f4\u7b2c\u4e8c\u9636\u6bb5\u7f8a\u819c\u7a7f\u523a\u672f\u8c03\u67e5\u4e2d\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>,\u8be5\u8c03\u67e5\u662f\u6839\u636e\u6bcd\u4eb2\u5e74\u9f84\u8d85\u8fc735\u5c81\u76d1\u6d4b\u7684\u3002\u5176\u4e2d117\u4f8b\u8bca\u65ad\u4e3a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u53d1\u751f\u7387\u4e3a2.1% (117\/5484) \u3002\u975e\u5d4c\u5408\u4f53\u5e38\u67d3\u8272\u4f53\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u5206\u522b\u4e3a62\u4f8b(21\u53f7\u67d3\u8272\u4f53\u4e09\u4f5342\u4f8b\u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f5313\u4f8b\u300113\u53f7\u67d3\u8272\u4f53\u4e09\u4f537\u4f8b) \u548c15\u4f8b (XXY 10\u4f8b\u3001XXX 4\u4f8b\u548cXYY 1\u4f8b) \u3002\u672a\u8bca\u65ad\u51faX\u5355\u4f53\u6027 (\u7279\u7eb3\u7efc\u5408\u75c7) \u75c5\u4f8b<\/p>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88681<\/strong> \u6bcd\u4eb2\u4e0d\u540c\u5e74\u9f84\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6570\u91cf\u548c\u53d1\u751f\u7387<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n    <col style=\"width:calc(100% \/ 11)\">\n<\/colgroup>\n<thead>\n<tr>\n<th rowspan=\"2\">\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u6bcd\u4eb2\u7684\u5e74\u9f84<\/th><th rowspan=\"2\">\u80ce\u513f\u6570<\/th><th colspan=\"7\">\u975e\u6574\u500d\u6027 (\u5d4c\u5408\u4f53\u9664\u5916)<\/th><th rowspan=\"2\">\u5176\u4ed6<\/th><th rowspan=\"2\">\u603b\u8ba1<\/th>\n<\/tr>\n<tr>\n<th>47, +21<\/th><th>47, +18<\/th><th>47, +13<\/th><th>XXY<\/th><th>XXX<\/th><th>XYY<\/th><th>\u5168\u5f02\u6570<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>35<\/td><td>736<\/td><td>1(1.36)<sup>a<\/sup><\/td><td colspan=\"5\"><\/td><td>1(1.36)<\/td><td>1(1.36)<\/td><td>2(2.72)<\/td>\n<\/tr>\n<tr>\n<td>36<\/td><td>850<\/td><td>4(4.71)<\/td><td>2(2.35)<\/td><td><\/td><td>2(2.35)<\/td><td colspan=\"2\"><\/td><td>8(9,41)<\/td><td>4(4.71)<\/td><td>12(14.12)<\/td>\n<\/tr>\n<tr>\n<td>37<\/td><td>824<\/td><td>8(9.71)<\/td><td colspan=\"5\"><\/td><td>8(9.71)<\/td><td>4(4.85)<\/td><td>12(14.56)<\/td>\n<\/tr>\n<tr>\n<td>38<\/td><td>800<\/td><td>2(2.50)<\/td><td><\/td><td>2(2.50)<\/td><td><\/td><td>2(2.50)<\/td><td><\/td><td>6(7.50)<\/td><td>7(8.75)<\/td><td>13(16.25)<\/td>\n<\/tr>\n<tr>\n<td>39<\/td><td>713<\/td><td>8(11.22)<\/td><td><\/td><td>2(2.81)<\/td><td>1(1.40)<\/td><td><\/td><td>1(1.40)<\/td><td>12(19.17)<\/td><td>8(11.22)<\/td><td>20(28.05)<\/td>\n<\/tr>\n<tr>\n<td>40<\/td><td>626<\/td><td>6(9.58)<\/td><td>5(7.99)<\/td><td>1(1.60)<\/td><td>1(1.60)<\/td><td colspan=\"2\"><\/td><td>13(20.77)<\/td><td>10(15.97)<\/td><td>23(36.74)<\/td>\n<\/tr>\n<tr>\n<td>41<\/td><td>417<\/td><td>3(7.19)<\/td><td>3(7.19)<\/td><td>2(4.80)<\/td><td>2(4.80)<\/td><td colspan=\"2\"><\/td><td>10(23.98)<\/td><td>1(2.40)<\/td><td>11(26.38)<\/td>\n<\/tr>\n<tr>\n<td>42<\/td><td>255<\/td><td>6(23.53)<\/td><td>1(3.92)<\/td><td><\/td><td>3(11.76)<\/td><td>1(3.92)<\/td><td><\/td><td>11(43.14)<\/td><td>2(7.84)<\/td><td>13(50.98)<\/td>\n<\/tr>\n<tr>\n<td>43<\/td><td>146<\/td><td>2(13.70)<\/td><td>1(6.85)<\/td><td><\/td><td>1(6.85)<\/td><td>1(6.85)<\/td><td><\/td><td>5(34.23)<\/td><td>2(13.70)<\/td><td>7(47.95)<\/td>\n<\/tr>\n<tr>\n<td>44<\/td><td>87<\/td><td>2(22.99)<\/td><td colspan=\"5\"><\/td><td>2(22.99)<\/td><td>1(11.49)<\/td><td>3(34.48)<\/td>\n<\/tr>\n<tr>\n<td>45<\/td><td>22<\/td><td><\/td><td>1(45.45)<\/td><td colspan=\"4\"><\/td><td>1(45.45)<\/td><td><\/td><td>1(45.45)<\/td>\n<\/tr>\n<tr>\n<td>46<\/td><td>7<\/td><td colspan=\"9\"><\/td>\n<\/tr>\n<tr>\n<td>47<\/td><td>1<\/td><td colspan=\"9\"><\/td>\n<\/tr>\n<tr>\n<td>\u603b\u8ba1<\/td><td>5484<\/td><td>42(7.66)<\/td><td>13(2.37)<\/td><td>7(1.28)<\/td><td>10(2.82)<\/td><td>4(0.73)<\/td><td>1(0.18)<\/td><td>77(14.04)<\/td><td>40(7.29)<\/td><td>117(21.33)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n<\/div>\n<\/section>\n<p><sup>a<\/sup>\u6570\u5b57 (\u4ee5\u53ca\u6bcf1000\u7684\u53d1\u75c5\u7387)\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53,\u8003\u8651\u5230\u6807\u51c6\u8bef\u5dee (SE=0.063) ,\u6bcd\u4f53\u5e74\u9f84\u7cfb\u6570b\u4e3a\u6b63 (b=0.245) ,\u4e0e\u96f6 (95%\u7f6e\u4fe1\u533a\u95f4 (CI) :0.100-0.389, P=0.0045) \u6709\u663e\u7740\u4e0d\u540c,\u8bf4\u660e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u53d1\u751f\u7387\u968f\u7740\u6bcd\u4f53\u5e74\u9f84\u7684\u589e\u52a0\u5448\u6307\u6570\u589e\u52a0(<strong>\u56fe1<\/strong>\u3001<strong>\u88682<\/strong>)\u3002<\/p>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88682<\/strong> Logistic\u56de\u5f52\u8ba1\u7b97\u7684\u7cfb\u6570\u548c\u6807\u51c6\u8bef\u5dee*<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th colspan=\"2\">\u5e38\u6570\u9879<\/th><th colspan=\"4\">\u6bcd\u8bed<\/th>\n<\/tr>\n<tr>\n<th><\/th><th>a<\/th><th>SE<\/th><th>b<\/th><th>SE<\/th><th>95%\u7f6e\u4fe1\u533a\u95f4<\/th><th>P\u503c<\/th>\n<\/tr>\n<tr>\n<td>21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53<\/td><td>-7.605<\/td><td>2.485<\/td><td>0.245<\/td><td>0.063<\/td><td>0.100-0.389<\/td><td>0.0045<\/td>\n<\/tr>\n<tr>\n<td>+18, +13<\/td><td>-9.661<\/td><td>3.464<\/td><td>0.284<\/td><td>0.085<\/td><td>0.075-0.493<\/td><td>0.0159<\/td>\n<\/tr>\n<tr>\n<td>\u6027\u67d3\u8272\u4f53<\/td><td>-10.087<\/td><td>4.196<\/td><td>0.290<\/td><td>0.105<\/td><td>0.020-0.560<\/td><td>0.0400<\/td>\n<\/tr>\n<tr>\n<td>\u6240\u6709\u975e\u6574\u500d\u6027**<\/td><td>-7.719<\/td><td>2.085<\/td><td>0.261<\/td><td>0.052<\/td><td>0.144-0.379<\/td><td>0.0007<\/td>\n<\/tr>\n\n<\/thead><\/table>\n<\/figure>\n<\/div>\n<\/section>\n<p>95%CI: 95%\u7f6e\u4fe1\u533a\u95f4<br>\n* \u6a21\u578by=exp (a+bx) \uff0c\u5176\u4e2dx=\u7f8a\u819c\u7a7f\u523a\u65f6\u6bcd\u4eb2\u7684\u5e74\u9f84\uff0c y=\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u53d1\u751f\u7387\u3002<br>\n** \u6392\u9664\u5d4c\u5408\u4f53\u548c\u7ed3\u6784\u5f02\u5e38\u3002<\/p>\n\n\n\n<p>\u5173\u4e8e18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53,\u89c2\u5bdf\u5230\u6bcf\u4e2a\u67d3\u8272\u4f53\u4e09\u4f53\u5728\u5e74\u9f84\u8f83\u5927\u7684\u6bcd\u4eb2\u4e2d\u7684\u53d1\u75c5\u7387\u589e\u52a0,\u4e0e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u76f8\u4f3c,\u4f46\u5176\u5173\u7cfb\u4e0d\u5177\u6709\u7edf\u8ba1\u5b66\u610f\u4e49\u3002\u5f53\u5c06\u8fd92\u79cd\u975e\u6574\u500d\u6027\u4f5c\u4e3a\u81f4\u6b7b\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4e00\u8d77\u8ba1\u7b97\u65f6,\u53d1\u75c5\u7387\u968f\u7740\u6bcd\u4eb2\u5e74\u9f84\u7684\u589e\u957f\u800c\u589e\u52a0 (b=0.284,SE=0.085,95%CI:0.075-0.493, P=0.0159)(<strong>\u56fe2<\/strong>\u3001<strong>\u88682<\/strong>)\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe1<\/strong><\/strong> 21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u767e\u5206\u6bd4 (\u6bcf1000\u4e2a\u80ce\u513f) (\u7eb5\u5411) \u548c\u6bcd\u4eb2\u7684\u5e74\u9f84 (\u6a2a\u5411)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"934\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/ma_tri21-1024x934.png\" alt=\"\" class=\"wp-image-18714\"\/><\/figure>\n<\/div><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56f32<\/strong><\/strong> \u81f4\u6b7b\u6027\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53 (\u67d3\u8272\u4f53\u4e09\u4f5318\u548c\u67d3\u8272\u4f53\u4e09\u4f5313) \u7684\u767e\u5206\u6bd4 (\u6bcf1000\u4e2a\u80ce\u513f) (\u7eb5\u5411) \u548c\u6bcd\u4eb2\u7684\u5e74\u9f84 (\u6a2a\u5411)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"936\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/ma_1813-1024x936.png\" alt=\"\" class=\"wp-image-18716\"\/><\/figure>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n<p>\u5728\u5404\u79cd\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u65b9\u9762,\u4e0e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u76f8\u540c,\u9ad8\u9f84\u4ea7\u5987\u7684\u53d1\u751f\u7387\u6709\u589e\u52a0\u8d8b\u52bf,\u4f46\u76f8\u5173\u6027\u4e0d\u5177\u6709\u7edf\u8ba1\u5b66\u610f\u4e49\u3002\u5f53\u5c06\u4e09\u79cd\u7c7b\u578b\u7684\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4f5c\u4e3a\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4e00\u8d77\u8ba1\u7b97\u65f6\uff0c\u968f\u7740\u6bcd\u4eb2\u5e74\u9f84\u7684\u589e\u957f\uff0c\u53d1\u75c5\u7387\u663e\u5730\u589e\u52a0 (<em>b<\/em> = 0.290,SE = 0.105, 95% CI: 0.020\uff5e0.560, <em>P<\/em> = 0.040) (<strong>\u56fe3<\/strong>\u3001<strong>\u88682<\/strong>)\u3002 \u5bf9\u4e8e\u6240\u6709\u975e\u6574\u500d\u6027\uff0c\u6bcd\u4eb2\u7684\u5e74\u9f84\u7cfb\u6570b\u4e5f\u662f\u6b63\u503c (b=0.261) ,\u8003\u8651\u5230\u6807\u51c6\u8bef\u5dee (SE=0.052) ,\u5176\u663e\u7740\u5dee\u5f02\u4e3a0 (95%CI:0.144-0.379, P=0.0007)(<strong>\u56fe4<\/strong>\u3001<strong>\u88682<\/strong>)\u3002 \u9664\u5217\u4e3e\u76846\u79cd\u4ee5\u5916\uff0c\u672a\u68c0\u6d4b\u5230\u975e\u82b1\u53f6\u4e09\u4f53\u3002<\/p>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe<\/strong>3<\/strong> \u67d3\u8272\u4f53\u5f02\u5e38(XXY\u3001XXX\u3001XYY)\u7684\u767e\u5206\u6bd4 (\u7eb5\u5411) \u548c\u6bcd\u4eb2\u7684\u5e74\u9f84 (\u6a2a\u5411)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"928\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/ma_sex_mono-1024x928.png\" alt=\"\" class=\"wp-image-18718\"\/><\/figure>\n<\/div><\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:50%\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p><strong><strong>\u56fe<\/strong>4<\/strong> \u9664\u5d4c\u5408\u4f53\u548c\u7ed3\u6784\u5f02\u5e38\u4ee5\u5916\u7684\u6240\u6709\u975e\u6574\u500d\u4f53\u7684\u6bd4\u4f8b (\u7eb5\u5411) \u548c\u6bcd\u4eb2\u5e74\u9f84 (\u6a2a\u5411)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"929\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/ma_all_aneuploidies-1024x929.png\" alt=\"\" class=\"wp-image-18720\"\/><\/figure>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88683<\/strong> \u56de\u5f52\u5e73\u6ed1\u6027\u5f02\u5e38\u53d1\u751f\u7387\/\u7f8a\u819c\u7a7f\u523a\u65f61000 (\u6309\u6bcd\u4eb2\u5e74\u9f84\u5212\u5206)<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n    <col style=\"width:calc(100% \/ 7)\">\n<\/colgroup>\n<thead>\n<tr>\n<th rowspan=\"2\">\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u6bcd\u4eb2\u7684\u5e74\u9f84<\/th><th colspan=\"4\">\u56de\u5f52\u5e73\u6ed1\u9884\u671f\u53d1\u751f\u7387 (\u6bcf1000\u4eba)<\/th>\n<\/tr>\n<tr>\n<th>21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53<\/th><th>+18, +13<\/th><th>\u6027\u67d3\u8272\u4f53<\/th><th>\u5168\u5f02\u6570\n<\/th><\/tr>\n<tr>\n<td>35<\/td><td>2.62<\/td><td>1.32<\/td><td>1.07<\/td><td>4.12<\/td>\n<\/tr>\n<tr>\n<td>36<\/td><td>3.37<\/td><td>1.76<\/td><td>1.42<\/td><td>5.35<\/td>\n<\/tr>\n<tr>\n<td>37<\/td><td>4.31<\/td><td>2.33<\/td><td>1.90<\/td><td>6.94<\/td>\n<\/tr>\n<tr>\n<td>38<\/td><td>5.50<\/td><td>3.10<\/td><td>2.54<\/td><td>9.02<\/td>\n<\/tr>\n<tr>\n<td>39<\/td><td>7.03<\/td><td>4.12<\/td><td>3.40<\/td><td>11.70<\/td>\n<\/tr>\n<tr>\n<td>40<\/td><td>8.98<\/td><td>5.47<\/td><td>4.54<\/td><td>15.20<\/td>\n<\/tr>\n<tr>\n<td>41<\/td><td>11.47<\/td><td>7.26<\/td><td>6.07<\/td><td>19.73<\/td>\n<\/tr>\n<tr>\n<td>42<\/td><td>14.66<\/td><td>9.65<\/td><td>8.11<\/td><td>25.61<\/td>\n<\/tr>\n<tr>\n<td>43<\/td><td>18.73<\/td><td>12.82<\/td><td>10.84<\/td><td>33.25<\/td>\n<\/tr>\n<tr>\n<td>44<\/td><td>23.93<\/td><td>17.03<\/td><td>14.48<\/td><td>43.16<\/td>\n<\/tr>\n<tr>\n<td>45<\/td><td>30.57<\/td><td>22.62<\/td><td>19.36<\/td><td>56.04<\/td>\n<\/tr>\n\n<\/thead><\/table>\n<\/figure>\n<\/div>\n<\/section>\n\n\n\n<p>\u57fa\u4e8e\u8fd9\u4e9b\u56de\u5f52\u5206\u6790\uff0c\u8ba1\u7b97\u9664\u4e8621\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u3001\u81f4\u6b7b\u6027\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53 (18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53) \u3001\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53(47, XXY;47, XXX;47, XXYY)\u548c\u5d4c\u5408\u4f53\u548c\u7ed3\u6784\u5f02\u5e38\u4e4b\u5916\u7684\u6240\u6709\u975e\u6574\u500d\u4f53\u7684\u9884\u671f\u53d1\u751f\u7387(<strong>\u88683<\/strong>)\u3002 \u3002\u672c\u7814\u7a76\u5f97\u5230\u7684\u7cfb\u6570\u4e0e\u5176\u4ed6\u56fd\u5bb6\u4ee5\u524d\u7684\u7814\u7a76 (Polani\u7b49\u4eba) \u5f97\u5230\u7684\u7cfb\u6570\u4e4b\u95f4\u6ca1\u6709\u663e\u7740\u5dee\u5f02\u30021976\u5e74;Schreinemachers\u7b491982;\u5f17\u683c\u68ee-\u53f2\u5bc6\u65af\u548c\u8036\u83281984\u5e74;Hook\u7b49\u4eba\u7684\u534f\u65b9\u5dee\u5206\u6790 (1984);\u4f8b\u5982\uff0c\u4ece\u5317\u7f8e\u7814\u7a76 (Hook\u7b49\u4eba) \u83b7\u5f97\u768421\u53f7\u67d3\u8272\u4f53\u4e09\u4f53y=exp (-14.7+0.262 x) \u65b9\u7a0b\u30021984) .<\/p>\n\n\n\n<p><strong>\u88684<\/strong>\u663e\u793a\u4e86\u6240\u6709\u5176\u4ed6\u4e34\u5e8a\u4e0a\u91cd\u8981\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u8bca\u65ad\u3002\u7ed3\u6784\u5f02\u5e38\u603b\u6570\u4e3a27 (1\u4e2a\u5931\u8861\u7684\u7f57\u4f2f\u900a\u6613\u4f4d,10\u4e2a\u5747\u8861\u7684\u76f8\u4e92\u6613\u4f4d,4\u4e2a\u5747\u8861\u7684\u7f57\u4f2f\u900a\u6613\u4f4d,12\u4e2a\u5012\u4f4d) \u3002\u5d4c\u5408\u4f53\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f5311\u4f8b\uff0c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f532\u4f8b\u3002\u5728\u5d4c\u5408\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u60c5\u51b5\u4e0b,\u8bca\u65ad\u51fa\u966421,18,13\u4e4b\u5916\u7684\u67d3\u8272\u4f53\u7684\u975e\u6574\u500d\u6027\u3002<\/p>\n\n\n\n<section class=\"note_table\">\n<p><strong>\u88684<\/strong> \u4e0d\u540c\u5e74\u9f84\u6bcd\u4eb2\u7684\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38<\/p>\n<div class=\"table-sp-scroll\">\n<figure>\n<table>\n<colgroup>\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n    <col style=\"width:calc(100% \/ 8)\">\n<\/colgroup>\n<thead>\n<tr>\n<th rowspan=\"3\">\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u6bcd\u4eb2\u7684\u5e74\u9f84<\/th><th colspan=\"3\">\u6613\u4f4d<\/th><th rowspan=\"3\">\u5012\u7f6e<\/th><th colspan=\"2\">\u5d4c\u5408\u4e3b\u4e49<\/th><th rowspan=\"3\">\u603b\u8ba1<\/th>\n<\/tr>\n<tr>\n<th>\u5931\u8861<\/th><th colspan=\"2\">\u5e73\u8861<\/th><th rowspan=\"2\">\u5e38\u67d3\u8272\u4f53<\/th><th rowspan=\"2\">45\u3001X\/46\u3001XY<\/th>\n<\/tr>\n<tr>\n<th>\u7f57\u4f2f\u68ee\u578b<\/th><th>\u76f8\u4e92<\/th><th>\u7f57\u4f2f\u68ee\u578b<\/th>\n<\/tr>\n<tr>\n<td>35<\/td><td><\/td><td>1(1.36)<sup>a<\/sup><\/td><td colspan=\"4\"><\/td><td>1(1.36)<\/td>\n<\/tr>\n<tr>\n<td>36<\/td><td><\/td><td>1(1.18)<\/td><td>1(1.18)<\/td><td>1(1.18)<\/td><td>1(1.18)<\/td><td><\/td><td>4(4.71)<\/td>\n<\/tr>\n<tr>\n<td>37<\/td><td><\/td><td>3(3.64)<\/td><td><\/td><td>1(1.21)<\/td><td colspan=\"2\"><\/td><td>4(4.85)<\/td>\n<\/tr>\n<tr>\n<td>38<\/td><td>1(1.25)<\/td><td>2(2.50)<\/td><td><\/td><td>2(2.50)<\/td><td>1(1.25)<\/td><td>1(1.25)<\/td><td>7(8.75)<\/td>\n<\/tr>\n<tr>\n<td>39<\/td><td><\/td><td>1(1.40)<\/td><td><\/td><td>5(7.01)<\/td><td>2(2.81)<\/td><td><\/td><td>8(11.22)<\/td>\n<\/tr>\n<tr>\n<td>40<\/td><td><\/td><td>2(3.19)<\/td><td>2(3.19)<\/td><td>1(1.60)<\/td><td>4(6.39)<\/td><td>1(1.60)<\/td><td>10(15.97)<\/td>\n<\/tr>\n<tr>\n<td>41<\/td><td colspan=\"4\"><\/td><td>1(2.40)<\/td><td><\/td><td>1(2.40)<\/td>\n<\/tr>\n<tr>\n<td>42<\/td><td colspan=\"2\"><\/td><td>1(3.92)<\/td><td><\/td><td>1(3.92)<\/td><td><\/td><td>2(7.84)<\/td>\n<\/tr>\n<tr>\n<td>43<\/td><td colspan=\"3\"><\/td><td>1(6.85)<\/td><td>1(6.85)<\/td><td><\/td><td>2(13.70)<\/td>\n<\/tr>\n<tr>\n<td>44<\/td><td colspan=\"4\"><\/td><td>1(11.49)<\/td><td><\/td><td>1(11.49)<\/td>\n<\/tr>\n<tr>\n<td>\u603b\u8ba1<\/td><td>1(0.18)<\/td><td>10(1.82)<\/td><td>4(0.73)<\/td><td>12(2.19)<\/td><td>11(2.01)<\/td><td>2(0.36)<\/td><td>40(7.29)<\/td>\n<\/tr>\n\n<\/thead><\/table>\n<\/figure>\n<\/div>\n<\/section>\n<p><sup>a<\/sup>\u6570\u5b57 (\u548c\u6bcf1000\u7684\u53d1\u75c5\u7387)\u3002<\/p>\n\n\n\n<p>\u5176\u4ed6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\uff0c\u5305\u62ec\u6613\u4f4d\uff0c\u5012\u4f4d\u548c\u5d4c\u5408\u4f53,\u4e0e\u6bcd\u4eb2\u5e74\u9f84\u548c\u53d1\u75c5\u7387\u65e0\u663e\u7740\u5173\u7cfb\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u6587\u7814\u7a76\u4e86\u65e5\u672c\u4e0d\u540c\u5e74\u9f84\u6bb5\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u53d1\u751f\u7387\u3002<\/p>\n\n\n\n<p>\u6b64\u6570\u636e\u662f\u9996\u6b21\u5728\u6b27\u7f8e\u4ee5\u5916\u7684\u56fd\u5bb6\u548c\u5730\u533a\u53d1\u5e03\u3002\u56de\u5f52\u5206\u6790\u7684\u7ed3\u679c\u4e0e\u4ee5\u5f80\u7684\u62a5\u544a(Polani\u7b491976\u5e74\uff0c Schreinemachers\u7b491982\u5e74\uff0cFerguson-Smithand Yates 1984\u5e74\uff0c Hook\u7b491984\u5e74\uff0c Hassold\u7b491996\u5e74)\u76f8\u540c\uff0c\u660e\u786e\u663e\u793a\u67d3\u8272\u4f53\u4e09\u4f5321\u3001\u81f4\u6b7b\u6027\u5e38<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u3001\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u53d1\u751f\u7387\u968f\u7740\u6bcd\u4f53\u5e74\u9f84\u7684\u4e0a\u5347\u800c\u589e\u52a0\u3002\u6b64\u5916\uff0c\u8fd8\u83b7\u5f97\u4e86\u6bcf\u4e2a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9884\u6d4b\u53d1\u751f\u7387\u516c\u5f0f\u3002\u8fd9\u4e9b\u6570\u636e\u5c06\u6709\u52a9\u4e8e\u65e5\u672c\u5973\u6027\u7684\u9057\u4f20\u54a8\u8be2\u3002<\/p>\n\n\n\n<p>\u8ba1\u7b97\u5f0f [y=exp (a+bx) ](<strong>\u88682<\/strong>)&nbsp;\u7684\u53c2\u6570\uff0c\u5e76\u8ba1\u7b97\u753121\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u3001\u81f4\u6b7b\u6027\u5e38\u67d3\u8272\u4f53\u4e09\u4f53 (18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53) \u3001\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u5728\u6bcf\u4e2a35\u5c81\u4ee5\u4e0a\u7684\u5b55\u4ea7\u5987\u5e74\u9f84\u7684\u6240\u6709\u975e\u6574\u500d\u6027\u65b9\u7a0b\u63a8\u5bfc\u51fa\u7684\u5e73\u6ed1\u671f\u671b\u503c(<strong>\u88683<\/strong>)\u3002\u6bd4\u8f83\u672c\u7814\u7a76\u5f97\u5230\u768421\u53f7\u67d3\u8272\u4f53\u4e09\u4f53 [y=exp (-7.6+0.245x) ] \u548c\u6b27\u6d32\u4ee5\u53ca\u5317\u7f8e\u7814\u7a76\u5f97\u5230\u7684\u516c\u5f0f [y=exp (-14.7+0.262x) ] (Hook\u7b49) \u30021984\u5e74\u5404\u53c2\u6570\u5dee\u5f02\u65e0\u663e\u8457\u6027\uff0c\u8868\u660e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u60a3\u75c5\u7387\u4e0d\u53d7\u79cd\u65cf\u6216\u5730\u7406\u56e0\u7d20\u7684\u5f71\u54cd\u3002\u6700\u8fd1\u7684\u7814\u7a76\u8868\u660e\uff0c\u4e0d\u4ec5\u51cf\u6570\u5206\u88c2-I\u800c\u4e14\u51cf\u6570\u5206\u88c2-II\u5bfc\u81f4\u7684\u975e\u6574\u500d\u6027\u4e0e\u6bcd\u4eb2\u7684\u5e74\u9f84\u76f8\u5173 (Plachot\u7b49\u4eba) \u30021988\u5e74;Macas\u7b491990\u5e74\uff0c Dailey\u7b491996\u5e74;Hassold\u7b491996) .\u57fa\u4e8e\u8fd9\u4e9b\u4e8b\u5b9e\uff0c\u8868\u660e\u8fd9\u79cd\u4e0d\u5206\u79bb\u53ef\u80fd\u662f\u4ec5\u7531\u8001\u5316\u8bf1\u53d1\u7684\u56e0\u7d20\u6240\u5f15\u8d77\u7684,\u5e76\u4e14\u53ef\u80fd\u662f\u4eba\u7c7b\u7e41\u6b96\u4e2d\u7684\u666e\u904d\u73b0\u8c61\u3002<\/p>\n\n\n\n<p>\u56e0\u4e3a\u901a\u8fc7\u7f8a\u819c\u7a7f\u523a\u672f\u5728\u4ea7\u524d\u8bca\u65ad\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u8868\u660e\u81ea\u7136\u6d41\u4ea7\u548c\/\u6b7b\u80ce\u7684\u6bd4\u4f8b\u9ad8\u4e8e\u7ec6\u80de\u9057\u4f20\u5b66\u6b63\u5e38\u80ce\u513f (Hook 1983);Hook\u7b49\u4eba) \u30021988\u30011989;Halliday\u7b49\u4eba1995\u5e74;Macintosh\u7b49\u4eba\u57281995\u5e74\uff0c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u68c0\u67e5<\/a>\u7684\u53d1\u751f\u7387\u4e0e\u51fa\u751f\u65f6\u7684\u53d1\u751f\u7387\u6709\u663e\u7740\u7684\u5dee\u5f02\u3002\u4e0e\u5148\u524d\u5173\u4e8e\u51fa\u751f\u65f6\u8bca\u65ad\u51fa\u7684\u975e\u5d4c\u5408\u4f53\u975e\u6574\u500d\u6027\u7684\u62a5\u9053\u76f8\u6bd4 (Hook\u7b49\u4eba) \u30021984\u5e74;\u9664\u5c11\u6570\u4f8b\u5916, Mutton\u7b49\u4eba\u57281991\u5e74\u7684\u7814\u7a76\u4e2d\u9610\u660e\u7684\u5f02\u5e38\u6838\u578b\u53ca\u5176\u987a\u5e8f\u57fa\u672c\u76f8\u540c,\u4f46\u5404\u975e\u5d4c\u5408\u4f53\u5f02\u500d\u6027\u7684\u53d1\u751f\u7387\u663e\u8457\u5347\u9ad8,\u4f8b\u5982\u65e5\u672c21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u53d1\u751f\u7387\u4e3a1.42\/1000 (\u524d\u7530\u7b49\u4eba) \u30021991) .\u8fd9\u4e9b\u9ad8\u53d1\u751f\u7387\u662f\u7531\u5728\u6000\u5b55\u4e2d\u671f\u6216\u665a\u671f\u53d1\u751f\u7684\u9009\u62e9\u6027\u6d41\u4ea7\u5f15\u8d77\u7684,\u5177\u6709\u975e\u6574\u500d\u6027\u7684\u80ce\u513f\u53ef\u80fd\u4f1a\u6b7b\u4ea7\u3002\u5728\u54a8\u8be2\u65f6\uff0c\u54a8\u8be2\u987e\u95ee\u5e94\u8ba8\u8bba\u4ece\u4ea7\u524d\u68c0\u67e5\u6570\u636e\u83b7\u5f97\u7684\u4f30\u8ba1\u98ce\u9669,\u5e76\u63d0\u4f9b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u5bf9\u81ea\u7136\u6b7b\u4ea1\u7684\u5f71\u54cd\u7684\u4f30\u7b97\u503c\u3002<\/p>\n\n\n\n<p>\u5728\u6000\u5b55\u4e2d\u671f\u901a\u8fc7\u7f8a\u819c\u7a7f\u523a\u672f\u8bca\u65ad\u7684\u6240\u6709\u975e\u5d4c\u5408\u4f53\u5f02\u500d\u4f53\u4e2d,\u4ec5\u68c0\u6d4b\u52306\u79cd\u4e09\u500d\u4f53\u3002X\u5355\u4f53\u6027\u548c16\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u5728\u7ed2\u6bdb\u53d6\u6837 (CVS) \u4e2d\u88ab\u68c0\u6d4b\u4e3a\u975e\u6574\u500d\u6027 (Hook\u7b49\u4eba) \uff0c\u4f46\u57281988\u5e74\u6216\u7f8a\u819c\u7a7f\u523a\u672f\u65e9\u671f (Lockwood and Neu 1993) \uff0c\u8be5\u7814\u7a76\u672a\u68c0\u6d4b\u5230\u8fd9\u79cd\u975e\u6574\u500d\u6027\u3002\u56e0\u4e3a\u7ec6\u80de\u9057\u4f20\u5b66CVS\u548c\u65e9\u671f\u7f8a\u819c\u7a7f\u523a\u672f\u901a\u5e38\u5728\u6000\u5b55\u7684\u7b2c1\u4e2a\u5b55\u671f\u8fdb\u884c (\u6000\u5b55\u7b2c9~\u7b2c11\u5468\u7684CVS);\u6000\u5b55\u7b2c11\u5468~\u7b2c14\u5468\u7684\u65e9\u671f\u7f8a\u819c\u7a7f\u523a\u672f) ,\u5927\u591a\u6570\u975e\u6574\u500d\u6027\u80ce\u513f\u53ef\u80fd\u5728\u7b2c\u4e8c\u6b21\u6000\u5b55\u7684\u7f8a\u819c\u7a7f\u523a\u672f\u524d\u81ea\u7136\u6d41\u4ea7\u3002\u8003\u8651\u5230\u5176\u4ed6\u75c5\u4f8b\uff0c\u8fd9\u79cd\u975e\u6574\u500d\u6027\u53ef\u4ee5\u5728\u6000\u5b55\u4e2d\u671f\u7684\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u68c0\u6d4b\u5230\u3002<\/p>\n\n\n\n<p>35\u5c81\u4ee5\u4e0a\u7684\u5b55\u4ea7\u5987\u6bd4\u4f8b\u9010\u6e10\u589e\u52a0\uff0c\u76ee\u524d\u5360\u65e5\u672c\u5b55\u4ea7\u5987\u768410%\u4ee5\u4e0a (1996\u5e74\u5987\u5e7c\u4fdd\u5065\u673a\u6784) \u3002\u8fd9\u4e9b\u5987\u5973\u4ece\u5927\u4f17\u5a92\u4f53\u548c\u533b\u7597\u4fe1\u606f\u6765\u6e90\u83b7\u5f97\u6709\u5173\u56e0\u9ad8\u9f84\u5bfc\u81f4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u9ad8\u98ce\u9669\u7684\u4fe1\u606f,\u5e76\u524d\u5f80\u4ea7\u79d1\u8bca\u6240\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u6216\u8981\u6c42<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u68c0\u67e5<\/a>\u3002\u5982\u679c\u9ad8\u9f84\u5b55\u5987\u6ca1\u6709\u5173\u4e8e\u98ce\u9669\u7684\u4fe1\u606f,\u9700\u8981\u5411\u4ea7\u79d1\u533b\u751f\u8bf4\u660e\u3002\u5728\u5bf9\u7531\u4e8e\u5e74\u9f84\u8f83\u5927\u800c\u5177\u6709\u98ce\u9669\u7684\u5987\u5973\u8fdb\u884c\u9057\u4f20\u54a8\u8be2\u671f\u95f4\uff0c\u4ea7\u79d1\u533b\u751f\u6216\u5176\u4ed6\u533b\u5b66\u4e13\u5bb6\u9700\u8981\u63d0\u793a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u53ef\u80fd\u6027\uff0c\u5e76\u6839\u636e\u8fd9\u79cd\u53ef\u80fd\u6027\u8ba9\u60a3\u8005\u9009\u62e9\u662f\u5426\u5e0c\u671b\u8fdb\u884c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/?lang=zh-hans\">\u4ea7\u524d\u68c0\u67e5<\/a>\u3002\u8fd9\u79cd\u53ef\u80fd\u6027\u5e94\u8be5\u4ece\u6d4b\u8bd5\u65f6\u7684\u6570\u636e\u4e2d\u5f97\u51fa\uff0c\u4f8b\u5982\u672c\u6d4b\u8bd5\u4e2d\u63ed\u793a\u7684\u9884\u6d4b\u7387\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u4e3a\u65e5\u672c\u5973\u6027\u7684\u54a8\u8be2\u63d0\u4f9b\u4e86\u6709\u7528\u7684\u6570\u636e\u3002\u7136\u800c\uff0c\u4e3a\u4e86\u66f4\u51c6\u786e\u5730\u9884\u6d4b\u5728\u6000\u5b55\u4e2d\u671f\u7684\u7f8a\u819c\u7a7f\u523a\u672f\u4e2d\u5404<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/?lang=zh-hans\">\u67d3\u8272\u4f53\u5f02\u5e38<\/a>\u7684\u6bd4\u4f8b,\u8fd8\u9700\u8981\u7814\u7a76\u66f4\u591a\u7684\u75c5\u4f8b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Dailey T, Dale B, Cohen J, Munne S (1996) \u51cf\u6570\u5206\u88c2-II\u4eba\u5375\u6bcd\u7ec6\u80de\u4e0d\u5206\u79bb\u4e0e\u6bcd\u4eb2\u5e74\u9f84\u7684\u5173\u7cfbAm J Hum Genet 59:176 -184<\/li>\n\n\n\n<li>Ferguson-SmithMA, Yates JRW (1984) \u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6bcd\u4eb2\u5e74\u9f84\u7279\u5f02\u6027\u6bd4\u4f8b\u53ca\u5176\u5f71\u54cd\u56e0\u7d20:52,965\u4f8b\u7f8a\u819c\u7a7f\u523a\u672f\u7684\u6b27\u6d32\u5408\u4f5c\u7814\u7a76\u62a5\u544a\u3002\u6000\u5b55\u671f4:5-44<\/li>\n\n\n\n<li>Halliday JL, Watson LF, Lumley J, Danks DM, Sheffield LJ (1995) \u72ec\u7acb\u5b9a\u4e49\u7684\u9ad8\u9f84\u4ea7\u5987\u7ed2\u6bdb\u53d6\u6837,\u7f8a\u6c34\u7a7f\u523a,\u5206\u5a29\u65f6\u5510\u6c0f\u7efc\u5408\u75c7\u98ce\u9669\u7684\u6700\u65b0\u4f30\u7b97\u503c\u3002\u6000\u5b55\u671f15:455-465<\/li>\n\n\n\n<li>Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Sakar D, Shen J, Zaragoza M (1996) \u4eba\u7c7b\u975e\u6574\u500d\u6027\u7684\u53d1\u751f\u7387\uff0c\u6765\u6e90\u548c\u75c5\u56e0\u73af\u5883\u6469\u5c14\u81f4\u7a81\u53d8\u4f5328:167-175]<\/li>\n\n\n\n<li>Fook EB (1983) \u7f8a\u819c\u7a7f\u523a\u672f\u540e\u67d3\u8272\u4f53\u5f02\u5e38\u548c\u80ce\u513f\u81ea\u7136\u6b7b\u4ea1:\u4e0e\u8fdb\u4e00\u6b65\u6570\u636e\u548c\u6bcd\u4eb2\u5e74\u9f84\u7684\u5173\u7cfbAm J Hum Genet 35:110 -116<\/li>\n\n\n\n<li>Hook EB, Cross PK, Regal RR (1984) 47,121\u300147,118\u548c47,113\u5728\u6bcd\u4f53\u5e74\u9f84\u6700\u9ad8\u7aef\u7684\u9891\u7387:\u4e0e56,094\u4e2a\u80ce\u513f\u7684\u4ea7\u524d\u548c\u51fa\u751f\u6570\u636e\u8fdb\u884c\u6bd4\u8f83\u3002Hum Genet 68:211 -220<\/li>\n\n\n\n<li>Hook EB, Cross PK, Jackson L, Pergament E, Brambati B (1988) \u7ed2\u6bdb\u6d3b\u68c0\u6807\u672c\u4e2d\u5728\u6000\u5b55\u65e9\u671f\u8bca\u65ad\u7684\u6bcd\u4eb2\u7684\u5e74\u9f84\u7279\u5f02\u6027\u6bd4\u4f8b47,121\u548c\u5176\u4ed6\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38:\u4e0e\u901a\u8fc7\u7f8a\u819c\u7a7f\u523a\u672f\u89c2\u5bdf\u9884\u6d4b\u7684\u6bd4\u4f8b\u8fdb\u884c\u6bd4\u8f83\u3002Am J Hum Genet 42:797 -807<\/li>\n\n\n\n<li>Hook EB, Topol BB, Cross PK (1989) \u901a\u8fc7\u6000\u5b55\u4e2d\u671f\u7f8a\u6c34\u7a7f\u523a\u68c0\u6d4b\u5230\u7ec6\u80de\u9057\u4f20\u5b66\u5f02\u5e38\u80ce\u513f\u7684\u81ea\u7136\u75c5\u53f2:\u4e0e47,121\u548c\u5176\u4ed6\u5f02\u5e38\u6838\u578b\u76f8\u5173\u7684\u665a\u671f\u80ce\u513f\u6b7b\u4ea1\u7684\u8fc7\u91cf\u548c\u76f8\u5bf9\u98ce\u9669\u7684\u65b0\u6570\u636e\u548c\u4f30\u7b97\u503c\u3002Am J Hum Genet 45:855 -861<\/li>\n\n\n\n<li>Lockwood DH, Neu RL (1993) \u4ece\u6000\u5b55\u672a\u6ee114\u5468\u7684\u6000\u5b55\u4e2d\u6536\u96c6\u76841375\u4e2a\u7f8a\u6c34\u6837\u672c\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u3002\u6000\u5b55\u8bca\u65ad13:801-805<\/li>\n\n\n\n<li>Macas E, Floersheim Y, Hotz E, Imthurn B, Keller PJ, Walt H (1990) \u4eba\u5375\u6bcd\u7ec6\u80de\u4e2d\u7684\u5f02\u5e38\u67d3\u8272\u4f53\u5e8f\u5217\u3002\u54c8\u59c6\u5229\u666e\u7f57\u5fb75:703 -707<\/li>\n\n\n\n<li>Macintosh MCM, Wald NJ, Chard T, Hansen J, Mikkelsen M, Therkelsen AJ, Petersen GB, Lundsteen C (1995) 35\u5c81\u4ee5\u4e0a\u5973\u6027\u5510\u6c0f\u7efc\u5408\u75c7\u80ce\u513f\u9009\u62e9\u6027\u6d41\u4ea7\u3002Br J Obstet Gynaecol 102:798 -801<\/li>\n\n\n\n<li>\u524d\u7530\u3001\u5927\u91ce\u3001\u677e\u91ce\u3001A\u3001\u5409\u539f\u3001Yabe N (1991) \u8fde\u7eed\u8bde\u751f\u768414,835\u4eba\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u8c03\u67e5\u3002Jpn J\u4eba\u7c7b\u57fa\u56e036:117 -129<\/li>\n\n\n\n<li>\u5987\u5e7c\u4fdd\u5065\u673a\u6784 (1996) \u6309\u5e74\u9f84\u5212\u5206\u7684\u6bcd\u4eb2\u7684\u5b58\u6d3b\u5206\u5a29\u6570\u3002\u300a1996\u5e74\u65e5\u672c\u6bcd\u5b50\u4fdd\u5065\u7edf\u8ba1\u300b (\u7f16) \u4e1c\u4eac47\u9875-53 Mutton DE, Alberman E, Ide R, Bobrow M (1991) Ingland and Wales\u5168\u56fd\u767b\u8bb0\u5510\u6c0f\u7efc\u5408\u75c7\u7684\u7b2c\u4e00\u5e74 (1989) \u7ed3\u679c\u3002Br Mad J 303:1295 -1297<\/li>\n\n\n\n<li>NICHD Amniocentissis\u7814\u7a76\u5c0f\u7ec4 (1976) \u6000\u5b55\u4e2d\u671f\u7684\u7f8a\u819c\u7a7f\u523a\u672f\u8fdb\u884c\u4ea7\u524d\u8bca\u65ad:\u5b89\u5168\u6027\u548c\u51c6\u786e\u6027\u65e5\u672c\u6c7d\u8f66\u5236\u9020\u5546\u534f\u4f1a236:1471-1476<\/li>\n\n\n\n<li>Plachot M, de Grouchy J, Junca AM, Mandelbaum J,Salat-BarouxJ, Cohen J (1988) \u4eba\u7c7b\u5375\u6bcd\u7ec6\u80de\u548c\u80da\u80ce\u7684\u67d3\u8272\u4f53\u5206\u6790:\u53d7\u7cbe\u5ef6\u8fdf\u662f\u5426\u4f1a\u589e\u52a0\u67d3\u8272\u4f53\u5931\u8861?\u4eba\u7c7b\u751f\u6b96\u5668\u5b983:125-127<\/li>\n\n\n\n<li>Polani PE, Alberman E, Berry AC, Blunt S, Singer JD (1976) \u67d3\u8272\u4f53\u5f02\u5e38\u548c\u6bcd\u4eb2\u5e74\u9f84\u3002\u523a\u8840\u9488II:516 -517<\/li>\n\n\n\n<li>\u5c06Schreinemachers DM, Cross PK, Hook EB (1982) \u7ea62\u4e07\u9879\u4ea7\u524d\u7814\u7a76\u4e2d\u67d3\u8272\u4f53\u4e09\u4f5321\u300118\u300113\u548c\u5176\u4ed6\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6bd4\u4f8b\u4e0e\u63a8\u5b9a\u51fa\u751f\u7387\u8fdb\u884c\u6bd4\u8f83\u3002Hum Genet 61:318 -324<\/li>\n<\/ul>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"JB .H Juomch Gimesne&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/japanese-mothers-aged-35-and-older\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-47631","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47631","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=47631"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47631\/revisions"}],"predecessor-version":[{"id":109710,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/47631\/revisions\/109710"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=47631"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=47631"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=47631"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}