Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.
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DOI：
10.1038/ejhg.2011.134
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发表时间：
2012-01
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影响因子：
--
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脊髓性肌萎缩症（SMA）是婴儿死亡的主要遗传原因，据报道发病率为1 / 10000活产，是仅次于囊性纤维化的一种常见的、缩短寿命的常染色体隐性遗传病。美国医学遗传学学院建议对SMA进行人群携带者筛查，不论种族或民族，以促进知情的生殖选择，尽管其他组织认为在广泛实施之前需要进行额外的大规模研究。我们报告了该疾病的携带者检测（n=72 453）和产前诊断（n=121）的数据。我们对大规模人群携带者筛查数据（n= 68471）的分析证明了高通量检测的技术可行性，并在大型数据集提供的准确度水平上提供了突变携带者和等位基因频率。在我们美国泛民族人群中，计算出SMA的先验携带者频率为1/54，检出率为91.2%，计算出泛民族疾病发病率为1/ 11000。美国六个主要种族的携带者频率和检出率分别为高加索人群的1/47和94.8%，非洲裔美国人的1/72和70.5%。这种集体经验可以用来促进准确的孕前和孕后的咨询设置携带者筛查和产前诊断SMA。
Spinal muscular atrophy (SMA) is a leading inherited cause of infant death with a reported incidence of ∼1 in 10 000 live births and is second to cystic fibrosis as a common, life-shortening autosomal recessive disorder. The American College of Medical Genetics has recommended population carrier screening for SMA, regardless of race or ethnicity, to facilitate informed reproductive options, although other organizations have cited the need for additional large-scale studies before widespread implementation. We report our data from carrier testing (n=72 453) and prenatal diagnosis (n=121) for this condition. Our analysis of large-scale population carrier screening data (n=68 471) demonstrates the technical feasibility of high throughput testing and provides mutation carrier and allele frequencies at a level of accuracy afforded by large data sets. In our United States pan-ethnic population, the calculated a priori carrier frequency of SMA is 1/54 with a detection rate of 91.2%, and the pan-ethnic disease incidence is calculated to be 1/11 000. Carrier frequency and detection rates provided for six major ethnic groups in the United States range from 1/47 and 94.8% in the Caucasian population to 1/72 and 70.5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA.
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影响因子：
8.8
作者：
Prior, Thomas W.
通讯作者：
Prior, Thomas W.
影响因子：
2
作者：
Prior, TW;Swoboda, KJ;Hejmanowski, AQ
通讯作者：
Hejmanowski, AQ
影响因子：
4.1
作者：
Muralidharan, Kasinathan;Wilson, Robert B.;Schrijver, Iris
通讯作者：
Schrijver, Iris
影响因子：
5.2
作者：
Smith, Melanie;Calabro, Vanessa;du Sart, Desiree
通讯作者：
du Sart, Desiree
影响因子：
2.2
作者：
Scarciolla, Oronzo;Stuppia, Liborio;Dallapiccola, Bruno
通讯作者：
Dallapiccola, Bruno