Bajka Anahita, Bajka Michael, Chablais Fabian, Burkhardt Tilo
Department of Obstetrics, University Hospital Zurich, Frauenklinikstr. 10, 8091, Zurich, Switzerland.
Department of Gynecology, University Hospital of Zurich, Zurich, Switzerland.
Arch Gynecol Obstet. 2022 May;305(5):1185-1192. doi: 10.1007/s00404-021-06203-7. Epub 2021 Sep 17.
Noninvasive prenatal testing (NIPT) is actually the most accurate method of screening for fetal chromosomal aberration (FCA). We used pregnancy outcome record to evaluate a complete data set of single nucleotide polymorphism-based test results performed by a Swiss genetics center.
The Panorama test assesses the risk of fetal trisomies (21, 18 and 13), gonosomal aneuploidy (GAN), triploidy or vanishing twins (VTT) and five different microdeletions (MD). We evaluated all 7549 test results meeting legal and quality requirements taken in women with nondonor singleton pregnancies between April 2013 and September 2016 classifying them as high or low risk. Follow-up ended after 9 months, data collection 7 months later.
The Panorama test provided conclusive results in 96.1% of cases, detecting 153 FCA: T21 n = 76, T18 n = 19, T13 n = 15, GAN n = 19, VTT n = 13 and MD n = 11 (overall prevalence 2.0%). Pregnancy outcome record was available for 68.6% of conclusive laboratory results, including 2.0% high-risk cases. In this cohort the Panorama test exhibited 99.90% sensitivity for each trisomy; specificity was 99.90% for T21, 99.98% for T18 and 99.94% for T13. False positive rate was 0.10% for T21, 0.02% for T18 and 0.06% for T13.
SNP-based testing by a Swiss genetics center confirms the expected accuracy of NIPT in FCA detection.
无创产前检测（NIPT）实际上是筛查胎儿染色体畸变（FCA）最准确的方法。我们利用妊娠结局记录评估了瑞士一家遗传学中心基于单核苷酸多态性检测结果的完整数据集。
全景检测评估胎儿三体（21、18和13三体）、性染色体非整倍体（GAN）、三倍体或消失双胎（VTT）以及五种不同微缺失（MD）的风险。我们评估了2013年4月至2016年9月期间接受检测的7549例符合法律和质量要求的非供体单胎妊娠女性的检测结果，将其分为高风险或低风险。随访在9个月后结束，数据收集在7个月后进行。
全景检测在96.1%的病例中得出了确定性结果，检测到153例FCA：21三体（T21）n = 76例，18三体（T18）n = 19例，13三体（T13）n = 15例，GAN n = 19例，VTT n = 13例，MD n = 11例（总体患病率2.0%）。68.6%的确定性实验室结果有妊娠结局记录，其中包括2.0%的高风险病例。在该队列中，全景检测对每种三体的敏感性均为99.90%；21三体的特异性为99.90%，18三体为99.98%，13三体为99.94%。21三体的假阳性率为0.10%，18三体为0.02%，13三体为0.06%。
瑞士一家遗传学中心基于单核苷酸多态性的检测证实了NIPT在FCA检测中预期的准确性。
