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首页> 外文期刊>BMC Medical Genomics >Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

机译：扩大胎儿动脉倍差和拷贝数变异和父母入侵诊断的副本意愿的无侵入性产前试验，18,516例

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Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children’s Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38–100%), 96.67%(95%CI, 82.78–99.92%), and 100%(95%CI, 66.37–100.00%), and the specificity was 99.92%(95%CI, 99.87–99.96%), 99.96%(95%CI, 99.91–99.98%), and 99.88% (95%CI, 99.82–99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.
机译：非侵入性产前试验（NIPT）已被疯狂地用于筛选常见的内套膜。近年来，已经扩展了测试以检测稀有常染色体非倍差（大鼠）和拷贝数变异（CNV）。进行该研究以研究扩展的非侵入性产前试验（扩展NIPT）在筛选普通三粒子，性染色体非血糖（SCAS），稀有常染色体非素倍增物（大鼠）和拷贝数变异（CNV）和侵袭性产前的父母意愿中的性能中国产前诊断中心的诊断。从2013年1月到2019年1月，妇女和儿童医院共分析了24,702名孕妇，其中在24,702名孕妇中成功进行了扩展的NIPT。通过核型分析和染色体微阵列分析验证了高风险扩张的NIPT结果。所有测试的孕妇都随访妊娠结果。在24,702例案件中，在98.77％（401/446）的案件中进行了成功的随访，常见的三粒子和SCA，91.95％（80/87）大鼠和CNV病例，76.25％（18,429 / 24,169）病例低风险筛查结果。扩增的粘液的敏感性为100％（95％置信区间[CI]，97.38-100％），96.67％（95％CI，82.78-99.92％和100％（95％CI，66.37-100.00％），特异性为99.92％（95％CI，99.87-99.96％），99.96％（95％CI，99.91-99.98％）和99.88％（95％CI，95％CI，99.82-99.93％），用于检测三粒状21，分别为18和13。扩增的珍珠虫检测到45，X，47，XXX，47，XXY，Xyy综合征，大鼠和CNV，阳性预测值分别为25.49％，75％，94.12％，76.19％，6.45％和50％。携带胎儿的女性具有三元素21 / Tri isomy 18 / Trisomy 13的侵袭性产前诊断并以比SCAS，大鼠和CNV的高风险的速率终止了他们的怀孕。我们的研究表明，扩张的裸条检测胎儿三术21,18和13，具有高灵敏度和特异性。检测SCA，大鼠和CNVs的准确性仍然相对较差，并且需要改善。具有高风险扩大的效果，普通三元的高风险妇女更有可能接受侵入性产前诊断程序并终止其怀孕，而不是具有异常染色体异常的怀孕。

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