{"id":2643,"date":"2020-04-08T23:14:05","date_gmt":"2020-04-08T15:14:05","guid":{"rendered":"https:\/\/geneusmtc.com\/?page_id=2643"},"modified":"2020-04-23T11:22:55","modified_gmt":"2020-04-23T03:22:55","slug":"%e5%af%b6%e8%b2%9d%e5%85%88%e7%9f%a5%e6%aa%a2%e6%b8%ac%e5%a5%97%e4%bb%b6","status":"publish","type":"page","link":"https:\/\/geneusmtc.com\/service\/%e5%af%b6%e8%b2%9d%e5%85%88%e7%9f%a5%e6%aa%a2%e6%b8%ac%e5%a5%97%e4%bb%b6\/","title":{"rendered":""},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"background-color: rgba(255,255,255,0);background-position: left top;background-repeat: no-repeat;padding-top:100px;padding-right:0px;padding-bottom:75px;padding-left:0px;margin-bottom: 0px;margin-top: 0px;border-width: 0px 0px 0px 0px;border-color:#eae9e9;border-style:solid;\" ><div class=\"fusion-builder-row fusion-row\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-one-full fusion-column-first fusion-column-last\" style=\"margin-top:0px;margin-bottom:0px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;background-color:#ffffff;border:0px solid #dddddd;padding: 0px 20px 0px 20px;\"><div class=\"fusion-text fusion-text-1\"><h2><strong>\u5bf6\u8c9d\u5148\u77e5<\/strong><\/h2>\n<\/div><div class=\"fusion-text fusion-text-2\"><p>\u6bcf\u4f4d\u7236\u6bcd\u89aa\u90fd\u6703\u671f\u5f85\u81ea\u5df1\u6709\u500b\u5065\u5eb7\u7684\u5bf6\u5bf6\uff0c\u53f0\u7063\u570b\u6c11\u5065\u5eb7\u7f72\u63d0\u4f9b\u5b55\u5a66\u7522\u6aa2\u6642\u7684\u80ce\u5152\u6aa2\u67e5\u662f\u8d85\u97f3\u6ce2\u6aa2\u67e5\uff0c\u591a\u6578\u7684\u5b55\u5a66\u76ee\u524d\u4e5f\u591a\u534a\u6703\u81ea\u8cbb\u505a\u975e\u4fb5\u5165\u6027\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c ( Non-Invasive Prenatal Test ; NIPT) \u4f86\u5075\u6e2c\u5510\u6c0f\u75c7\u7b49\u554f\u984c\uff0c\u7136\u800c\u6676\u6e96\u91ab\u5b78\u63d0\u4f9b\u7684\u5bf6\u8c9d\u5148\u77e5\u6aa2\u6e2c\u662f\u91dd\u5c0d\u8d85\u97f3\u6ce2\u7522\u6aa2\u53ca\u4e00\u822c\u975e\u4fb5\u5165\u6027\u80ce\u5152\u67d3\u8272\u9ad4\u57fa\u56e0\u6aa2\u6e2c\u4e5f\u96e3\u4ee5\u5075\u6e2c\u7684\u75be\u75c5\u6240\u505a\u7684\u6aa2\u6e2c\u5167\u5bb9\u3002<\/p>\n<p>\u5728\u6bcd\u89aa\u81f3\u5c11\u61f7\u5b55\u4e5d\u9031\uff0c\u7f3a\u4e4f\u5bb6\u65cf\u75c5\u53f2\u7684\u60c5\u6cc1\u4e0b\uff0c\u62bd\u53d6\u7236\u3001\u6bcd\u89aa\u7684DNA\u53ca\u5075\u6e2c\u61f7\u5b55\u671f\u9593\uff0c\u80ce\u5152\u5728\u6bcd\u9ad4\u5167\u7522\u751f\u7684\u7d30\u80de\u5916\u6e38\u96e2DNA\uff0c\u4f86\u63a8\u6e2c\u80ce\u5152\u662f\u5426\u6709\u4e0b\u886830\u500b\u57fa\u56e0\u9020\u6210\u7684\u907a\u50b3\u6027\u75be\u75c5\uff0c\u800c\u9019\u4e9b\u57fa\u56e0\u7d2f\u52a0\u8d77\u4f86\u7684\u767c\u751f\u7387\u548c\u5510\u6c0f\u75c7\u7684\u767c\u751f\u7387\u4e00\u6a23\u9ad8\uff0c\u77e5\u9053\u80ce\u5152\u662f\u5426\u6709\u9019\u4e9b\u57fa\u56e0\u4e0a\u7684\u7f3a\u9677\u53ef\u4ee5\u8b93\u91ab\u8b77\u4eba\u54e1\u548c\u7236\u3001\u6bcd\u53ca\u5bb6\u4eba\u80fd\u9810\u5148\u505a\u57fa\u56e0\u8aee\u8a62\u53ca\u8a08\u756b\u3002<\/p>\n<p>\u4e00\u822c\u50b3\u7d71\u7684\u7522\u524d\u6aa2\u67e5\u591a\u6578\u662f\u91dd\u5c0d\u8457\u6bcd\u89aa\u751f\u7406\u6216\u907a\u50b3\u7b49\u60c5\u5f62\u9020\u6210\u80ce\u5152\u57fa\u56e0\u7f3a\u9677\u800c\u505a\u7684\u6aa2\u9a57\uff0c\u4f8b\u5982\u9ad8\u9f61\u7522\u5a66\u6700\u597d\u52a0\u505a\u5510\u6c0f\u75c7\u7be9\u6aa2\uff0c\u7136\u800c\u5bf6\u8c9d\u5148\u77e5\u53ef\u4ee5\u91dd\u5c0d\u5927\u65bc40\u6b72\u7684\u9ad8\u9f61\u7236\u89aa (Advanced Paternal Age) \u9020\u6210\u7684\u57fa\u56e0\u7f3a\u9677\u4f5c\u5206\u6790\uff0c\u96d6\u7136\u7537\u6027\u4e00\u751f\u90fd\u6703\u88fd\u9020\u7cbe\u5b50\uff0c\u4f46\u96a8\u8457\u5e74\u9f61\u7684\u589e\u9577\uff0cDNA\u8907\u88fd\u932f\u8aa4\u7684\u6a5f\u7387\u4e5f\u6703\u96a8\u4e4b\u589e\u52a0\uff0c\u6709\u4e9bDNA\u8907\u88fd\u932f\u8aa4\u9020\u6210\u7684\u57fa\u56e0\u7f3a\u9677\u548c\u5927\u65bc40\u6b72\u7684\u9ad8\u9f61\u7236\u89aa\u6709\u9ad8\u5ea6\u95dc\u4fc2\uff0c\u4f8b\u5982\u8edf\u9aa8\u767c\u80b2\u4e0d\u5168\u75c7 (\u53c8\u7a31\u4f8f\u5112\u75c7)\uff0c\u5c0f\u65bc40\u6b72\u7684\u7236\u89aa\u751f\u51fa\u4f8f\u5112\u75c7\u5b69\u7ae5\u7684\u6a5f\u7387\u662f40\u6b72\u7684\u9ad8\u9f61\u7236\u89aa\u76841\/8\u3002\u53e6\u5916Pfeiffer\u6c0f\u75c7\u5019\u7fa4\u3001Crouzon\u6c0f\u75c7\u5019\u7fa4\u3001\u4e9e\u4f2f\u6c0f\u75c7\u3001\u81f4\u6b7b\u6027\u7578\u80ce\u3001\u6210\u9aa8\u4e0d\u5168\u75c7\u4e5f\u90fd\u8207\u5927\u65bc40\u6b72\u7684\u9ad8\u9f61\u7236\u89aa\u6709\u9ad8\u5ea6\u95dc\u4fc2\u3002<\/p>\n<\/div><style type=\"text\/css\"><\/style><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-one\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px;\"><h1 class=\"title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;--fontSize:80;line-height:1;\"><h2 style=\"text-align: center;\">\u57fa\u56e0\u53ca\u76f8\u95dc\u75be\u75c5<\/h2><\/h1><\/div>\n<div class=\"table-1\">\n<table style=\"height: 2326px;\" width=\"1085\">\n<tbody>\n<tr>\n<td width=\"72\">\u57fa\u56e0<\/td>\n<td width=\"400\">\u75be\u75c5<\/td>\n<td width=\"189\">\u75be\u75c5\u4e2d\u6587\u540d<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">BRAF<\/td>\n<td width=\"400\">Cardiofaciocutaneous syndrome 1<\/td>\n<td width=\"189\">CFC\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">CBL<\/td>\n<td width=\"400\">Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)<\/td>\n<td width=\"189\">\u985e-\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">CDKL5<\/td>\n<td width=\"400\">Epileptic encephalopathy, early infantile, 2<\/td>\n<td width=\"189\">\u5b30\u5152\u65e9\u671f\u7672\u7647\u6027\u8166\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">CHD7<\/td>\n<td width=\"400\">CHARGE syndrome<\/td>\n<td width=\"189\">CHARGE\u806f\u5408\u7578\u5f62<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">COL1A1<\/td>\n<td width=\"400\">Ehlers-Danlos syndrome, classic\uff1bEhlers-Danlos syndrome, type VIIA\uff1bOsteogenesis imperfecta, type I\uff1bOsteogenesis imperfecta, type II\uff1bOsteogenesis imperfecta, type III\uff1bOsteogenesis imperfecta, type IV<\/td>\n<td width=\"189\">\u9b06\u76ae\u75c7\u3001\u6210\u9aa8\u4e0d\u5168\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">COL1A2<\/td>\n<td width=\"400\">Ehlers-Danlos syndrome, cardiac valvular form\uff1bEhlers-Danlos syndrome, type VIIB\uff1bOsteogenesis imperfecta, type II\uff1bOsteogenesis imperfecta, type III\uff1bOsteogenesis imperfecta, type IV<\/td>\n<td width=\"189\">\u9b06\u76ae\u75c7\u3001\u6210\u9aa8\u4e0d\u5168\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">FGFR2<\/td>\n<td width=\"400\">Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis\uff1bApert syndrome\uff1bCrouzon syndrome\uff1bJackson-Weiss syndrome\uff1bPfeiffer syndrome type 1\/2\/3<\/td>\n<td width=\"189\">Antley Bixler\u75c7\u5019\u7fa4\u3001\u4e9e\u4f2f\u6c0f\u75c7\u3001 Crouzon\u6c0f\u75c7\u5019\u7fa4\u3001 Pfeiffer\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">FGFR3<\/td>\n<td width=\"400\">Achondroplasia\uff1bCATSHL syndrome\uff1bCrouzon syndrome with acanthosis nigricans\uff1bHypochondroplasia\uff1bMuenke syndrome\uff1bThanatophoric dysplasia, type I\uff1bThanatophoric dysplasia, type II<\/td>\n<td width=\"189\">\u8edf\u9aa8\u767c\u80b2\u4e0d\u5168\u75c7(\u4f8f\u5112\u75c7)\u3001 Crouzon\u6c0f\u75c7\u5019\u7fa4\u3001\u81f4\u6b7b\u6027\u7578\u80ce<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">HDAC8<\/td>\n<td width=\"400\">Cornelia de Lange syndrome 5<\/td>\n<td width=\"189\">Cornelia de Lange\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">HRAS<\/td>\n<td width=\"400\">Costello syndrome\/Noonan syndrome<\/td>\n<td width=\"189\">\u5148\u5929\u6027\u6c34\u75d8\u75c7\u5019\u7fa4(\u5c0f\u9ed1\u4eba\u75c7)\u3001\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">JAG1<\/td>\n<td width=\"400\">Alagille syndrome<\/td>\n<td width=\"189\">\u963f\u62c9\u5409\u6b50\u5fb5\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">KRAS<\/td>\n<td width=\"400\">Noonan syndrome\/cancers<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4\/\u764c\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">MAP2K1<\/td>\n<td width=\"400\">Cardiofaciocutaneous syndrome 3<\/td>\n<td width=\"189\">CFC\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">MAP2K2<\/td>\n<td width=\"400\">Cardiofaciocutaneous syndrome 4<\/td>\n<td width=\"189\">CFC\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">MECP2<\/td>\n<td width=\"400\">Rett syndrome\uff1bMECP2 Duplication Syndrome<\/td>\n<td width=\"189\">MECP2\u7d9c\u5408\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">NIPBL<\/td>\n<td width=\"400\">Cornelia de Lange syndrome 1<\/td>\n<td width=\"189\">Cornelia de Lange\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">NRAS<\/td>\n<td width=\"400\">Noonan syndrome 6\/cancers<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4\/\u764c\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">NSD1<\/td>\n<td width=\"400\">Sotos syndrome 1<\/td>\n<td width=\"189\">Sotos\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">PTPN11<\/td>\n<td width=\"400\">Noonan syndrome 1\/LEOPARD syndrome\/cancers<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4\/Leopard\u75c7\u5019\u7fa4\/\u764c\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">RAD21<\/td>\n<td width=\"400\">Cornelia de Lange syndrome 4<\/td>\n<td width=\"189\">Cornelia de Lange\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">RAF1<\/td>\n<td width=\"400\">Noonan syndrome 5\/LEOPARD syndrome 2<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4\/Leopard\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">RIT1<\/td>\n<td width=\"400\">Noonan syndrome 8<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SHOC2<\/td>\n<td width=\"400\">Noonan syndrome-like disorder with loose anagen hair<\/td>\n<td width=\"189\">\u985e-\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SMC1A<\/td>\n<td width=\"400\">Cornelia de Lange syndrome 2<\/td>\n<td width=\"189\">Cornelia de Lange\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SMC3<\/td>\n<td width=\"400\">Cornelia de Lange syndrome 3<\/td>\n<td width=\"189\">Cornelia de Lange\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SOS1<\/td>\n<td width=\"400\">Noonan syndrome 4<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SOS2<\/td>\n<td width=\"400\">Noonan syndrome 9<\/td>\n<td width=\"189\">\u52aa\u5357\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">SYNGAP1<\/td>\n<td width=\"400\">Intellectual disability<\/td>\n<td width=\"189\">\u667a\u80fd\u969c\u7919<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">TSC1<\/td>\n<td width=\"400\">Tuberous sclerosis 1<\/td>\n<td width=\"189\">\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"72\">TSC2<\/td>\n<td width=\"400\">Tuberous sclerosis 2<\/td>\n<td width=\"189\">\u7d50\u7bc0\u6027\u786c\u5316\u75c7<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<div class=\"fusion-clearfix\"><\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-parallax-fixed nonhundred-percent-fullwidth non-hundred-percent-height-scrolling fusion-equal-height-columns\" style=\"background-color: rgba(255,255,255,0);background-image: url(&quot;https:\/\/geneusmtc.com\/wp-content\/uploads\/2015\/12\/make-an-appointment.jpg&quot;);background-position: center center;background-repeat: no-repeat;padding-top:110px;padding-right:0px;padding-bottom:100px;padding-left:0px;margin-bottom: 0px;margin-top: 0px;border-width: 0px 0px 0px 0px;border-color:#eae9e9;border-style:solid;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;background-attachment:fixed;\" ><div class=\"fusion-builder-row fusion-row\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_3_5 3_5 fusion-three-fifth fusion-column-first\" style=\"width:58.4%; margin-right: 4%;margin-top:0px;margin-bottom:30px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;padding: 0px 0px 0px 0px;\"><div class=\"fusion-text fusion-text-3\"><h2 class=\"fusion-responsive-typography-calculated\" data-fontsize=\"48\" data-lineheight=\"60px\" data-fusion-font=\"true\"><span style=\"color: #ffffff;\">\u806f\u7d61\u6676\u6e96<\/span><\/h2>\n<\/div><div class=\"fusion-text fusion-text-4\"><p><span style=\"color: #ffffff;\" data-fusion-font=\"true\">\u5c0d\u65bc\u6211\u5011\u7684\u7522\u54c1\u8cc7\u8a0a\u9084\u6709\u7591\u60d1\u55ce\uff1f<\/span><\/p>\n<p><span style=\"color: #ffffff;\" data-fusion-font=\"true\">\u6b61\u8fce\u8a62\u554f\u6211\u5011\u5c08\u696d\u7684\u91ab\u5b78\u5ba2\u670d\u5c08\u54e1\uff0c\u6211\u5011\u6703\u76e1\u5feb\u8207\u60a8\u806f\u7d61\u3002<\/span><\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_2_5 2_5 fusion-two-fifth fusion-column-last\" style=\"width:37.6%;margin-top:0px;margin-bottom:30px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;padding: 0px 0px 0px 0px;\"><div class=\"fusion-column-content-centered\"><div 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