The value of non-invasive prenatal testing for the identification of numerical and structural chromosomal abnormalities and copy number variations in fetuses
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目的 探讨无创产前检测(NIPT)在胎儿染色体数目与结构异常及拷贝数变异(CNV)中的应用价值。 方法 选取2018年1月至2021年12月于郴州市第一人民医院产前诊断中心收治的46 197例孕妇为研究对象。采集孕妇外周血行NIPT，NIPT阳性孕妇经羊水细胞核型分析及拷贝数变异测序(CNV-seq)进一步鉴定，并分析3种检测结果的一致性。 结果 常见染色体非整倍体异常主要来自高龄孕妇，性染色体非整倍体异常主要来自高龄和血清学筛查临界风险或高风险孕妇，罕见常染色体非整倍体及CNV异常主要来自血清学筛查临界风险或高风险孕妇。NIPT检测胎儿染色体异常的阳性预测值(PPV)由高到低依次为：T21(92.37%，109/118)、T18(53.85%，14/26)、性染色体非整倍体(45.04%，59/131)、T13(34.62%，9/26)、CNV(29.17%，14/48)、罕见常染色体非整倍体(2.60%，2/77)。 结论 NIPT对于T21、T18、T13和性染色体非整倍体异常有较高的检出率，对于罕见常染色体非整倍体及CNV异常有一定的检测价值，能够提示一些染色体罕见结构异常，需要与羊水检测结果相互验证。 Objective To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variation (CNV) in fetuses. Methods 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People′s Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. Results Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNV were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNV (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). Conclusion NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNV, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Objective To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variation (CNV) in fetuses. Methods 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People′s Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. Results Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNV were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNV (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). Conclusion NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNV, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Non-invasive prenatal testingChromosomal aneuploidyCopy number variationKaryotype analysisCopy number variation sequencing
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