Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy
Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy
复制标题
用于脊髓性肌萎缩症无创产前诊断的无单倍型技术的开发和验证
DOI：
10.1002/jcla.23046
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发表时间：
2020
影响因子：
2.7
通讯作者：
Wu Lingqian
中科院分区：
文献类型：
--
作者：
Wei Xi;a;Lv Weigang;Tan Hu;Liang Desheng;Wu Lingqian
目的建立一种无创性诊断脊髓性肌萎缩症的产前诊断技术，并验证其有效性。17名女性被纳入A组，其中10名被随机选入B组并进行盲法测试。这两组测试是由两名不同的研究人员独立进行的，他们对胎儿的基因型别视而不见。根据定位的Y染色体测序读数的相对比例计算胎儿DNA比例。结果A组和B组羊水细胞DNA MLPA检测结果的符合率分别为94.12%和90%，分类结果与MLPA检测结果的符合率达100%(25/25)。结论建立了一种直接、快速、低成本的方法，可用于妊娠早期无创性产前诊断和脊肌萎缩症的筛查。
ObjectiveTo develop a technique for non‐invasive prenatal diagnosis of spinal muscular atrophy and validate its performance.Study DesignPregnant women with 1 copy ofSMN1and male fetuses were enrolled. Seventeen women were included in test set A, and 10 of them were selected into test set B randomly and blinded. The two sets were tested independently by two different researchers blinded to fetal genotypes. Fetal DNA fractions were calculated based on the relative proportion of mapped chromosome Y sequencing reads. An algorithm was developed to decide fetalSMN1copy numbers.ResultsThe concordance rate with the results of MLPA testing of amniocyte DNA was 94.12% in test set A and 90% in set B. For all tests with a classifiable result, the percent of agreement with the results of MLPA testing of amniocyte DNA was up to 100% (25/25).ConclusionWe have developed a direct, rapid, and low‐cost technique, which has a potential to be utilized for first‐trimester non‐invasive prenatal diagnosis and screening for spinal muscular atrophy with considerable reliability and feasibility.