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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-023-02774-x

摘要内容如下：

产前无细胞DNA（cfDNA）筛查使用在孕妇外周血中循环的细胞外胎儿DNA来检测普遍的胎儿染色体异常。然而，许多具有潜在单基因缺陷的严重疾病不包括在目前的产前cfDNA筛查中。在这项前瞻性、多中心和观察性研究中，胎儿遗传疾病风险升高的孕妇被纳入cfDNA筛查试验，该试验基于协同等位基因感知的靶标富集测序。该测试包括以下三种最常见的致病遗传变异：非整倍体、微缺失和单基因变异。将1，090名合格参与者的cfDNA筛查结果与侵入性产前或产后诊断检测结果进行比较。综合cfDNA筛查在135例妊娠中检测到基因改变，相对于标准诊断，敏感性为98.5%，特异性为99.3%。在超声检查发现的876例疑似结构异常的胎儿中，全面的cfDNA筛查发现了55例（56.1%）非整倍体、6例（6.1%）微缺失和37例（37.8%）单基因致病变异。目标单基因条件与染色体畸变的纳入导致检测率增加了60.7%（从61增加到98）。总之，这些数据提供的初步证据表明，全面的cfDNA筛查试验可以通过非侵入性方法在染色体和单基因水平上准确识别高危妊娠中的胎儿致病变异，这有可能改善对由异质性分子病因引起的严重遗传疾病的胎儿风险的产前评估。ClinicalTrials.gov注册：CHICTR2100045739。

英文原文如下：

Abstracts

Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening. In this prospective, multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing. This test encompasses the following three of the most frequent pathogenic genetic variations: aneuploidies, microdeletions and monogenic variants. The cfDNA screening results were compared to invasive prenatal or postnatal diagnostic test results for 1,090 qualified participants. The comprehensive cfDNA screening detected a genetic alteration in 135 pregnancies with 98.5% sensitivity and 99.3% specificity relative to standard diagnostics. Of 876 fetuses with suspected structural anomalies on ultrasound examination, comprehensive cfDNA screening identified 55 (56.1%) aneuploidies, 6 (6.1%) microdeletions and 37 (37.8%) single-gene pathogenic variants. The inclusion of targeted monogenic conditions alongside chromosomal aberrations led to a 60.7% increase (from 61 to 98) in the detection rate. Overall, these data provide preliminary evidence that a comprehensive cfDNA screening test can accurately identify fetal pathogenic variants at both the chromosome and single-gene levels in high-risk pregnancies through a noninvasive approach, which has the potential to improve prenatal evaluation of fetal risks for severe genetic conditions arising from heterogenous molecular etiologies. ClinicalTrials.gov registration: ChiCTR2100045739 .

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