Chen Y S, Wang F F, Lu L K Y, Ni Y H, Wang Q, Ying C M
Department of Clinical Laboratory, Obstetrics and Gynecology Hospital of Fudan University, Shanghai 200011, China.
Zhonghua Yu Fang Yi Xue Za Zhi. 2021 Dec 6;55(12):1491-1495. doi: 10.3760/cma.j.cn112150-20210716-00685.
To assess the positive predictive value (PPV) of extended noninvasive prenatal testing (NIPT-plus) for fetal chromosomal abnormalities. This retrospective research enrolled 511 cases of pregnant women with positive NIPT-plus results at the Obstetrics and Gynecology Hospital of Fudan University from May 2017 to January 2021. Karyotype analysis and chromosome microarray analysis (CMA) techniques was applied for verification. All cases were followed to determine their pregnancy outcome. The Chi-square test was used in PPV. 63 out of 511 refused prenatal diagnosis after counseling, 448 pregnant women with prenatal diagnosis showed that the PPVs of NIPT-plus test for fetal trisomy 21, 18 and 13 (T21, T18, T13), sex chromosome aneuploidy (SCAs) and chromosome microdeletion/microduplication syndrome (MMS) were 86.0% (92/107), 79.5% (35/44), 54.5% (12/22), 39.5% (75/190), and 41.7% (30/72), respectively. The results revealed that the PPV was higher among older pregnant women compared to young pregnant women (77.8% 51.9%,<0.01). With increasing maternal age, the PPV of NIPT-plus presented increasing trends for T21, T13, and composite PPV except for T18 or SCAs. In addition, the termination rates for confirmed SCAs fetal karyotypes 45, X; 47, XXX; 47, XXY and 47, XYY were 11/11, 3/15, 91.7% (22/24) and 1/14, respectively. NIPT-plus can safely and effectively detect fetal chromosomal abnormalities and can be extended to MMS screening, significantly reducing the proportion of interventional prenatal diagnoses, and those with positive screening still require further confirmation.
评估扩展无创产前检测（NIPT-plus）对胎儿染色体异常的阳性预测值（PPV）。这项回顾性研究纳入了2017年5月至2021年1月在复旦大学附属妇产科医院NIPT-plus结果为阳性的511例孕妇。采用核型分析和染色体微阵列分析（CMA）技术进行验证。对所有病例进行随访以确定其妊娠结局。PPV计算采用卡方检验。511例中有63例在咨询后拒绝产前诊断，448例接受产前诊断的孕妇显示，NIPT-plus检测对胎儿21-三体、18-三体和13-三体（T21、T18、T13）、性染色体非整倍体（SCAs）以及染色体微缺失/微重复综合征（MMS）的PPV分别为86.0%（92/107）、79.5%（35/44）、54.5%（12/22）、39.5%（75/190）和41.7%（30/72）。结果显示，与年轻孕妇相比，年长孕妇的PPV更高（77.8%对51.9%，P<0.01）。随着孕妇年龄的增加，除T18或SCAs外，NIPT-plus对T21、T13的PPV以及综合PPV呈上升趋势。此外，确诊为SCAs胎儿核型45,X；47,XXX；47,XXY和47,XYY的终止妊娠率分别为11/11、3/15、91.7%（22/24）和1/14。NIPT-plus能够安全有效地检测胎儿染色体异常，可扩展至MMS筛查，显著降低介入性产前诊断的比例，筛查阳性者仍需进一步确诊。
