Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.
Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases.
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DOI：
10.1371/4f9877ab8ffa9
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发表时间：
2012-05-02
期刊：
影响因子：
--
通讯作者：
Kingsmore S
中科院分区：
文献类型：
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作者：
Kingsmore S
在7，028种疑似孟德尔遗传的疾病中，1，139种是隐性的，并且具有确定的分子基础。虽然个别罕见，孟德尔疾病共同占婴儿死亡率的约20%和儿科住院的约18%。分子诊断检测目前仅可用于约300种隐性疾病。孕前筛查，加上对携带者的遗传咨询，已经导致几种严重的隐性疾病的发病率显着下降，包括泰-萨克斯病和囊性纤维化。然而，将孕前筛查和分子诊断测试扩展到大多数隐性疾病基因迄今为止是不切实际的。最近，我们报告了一个孕前携带者筛查/分子诊断测试448隐性儿童疾病。在此审查该测试的当前状态。目前，这份报告分析了综合载波测试的有效性。随着所描述背景下的临床有效性和临床实用性的确定，本文将进行更新。
Of 7,028 disorders with suspected Mendelian inheritance, 1,139 are recessive and have an established molecular basis. Although individually uncommon, Mendelian diseases collectively account for ~20% of infant mortality and ~18% of pediatric hospitalizations. Molecular diagnostic testing is currently available for only ~300 recessive disorders. Preconception screening, together with genetic counseling of carriers, has resulted in remarkable declines in the incidence of several severe recessive diseases including Tay-Sachs disease and cystic fibrosis. However, extension of preconception screening and molecular diagnostic testing to most recessive disease genes has hitherto been impractical. Recently, we reported a preconception carrier screen / molecular diagnostic test for 448 recessive childhood diseases. The current status of this test is reviewed here. Currently, this reports analytical validity of the comprehensive carrier test. As the clinical validity and clinical utility in the contexts described is ascertained, this article will be updated.