The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications

Frontiers in Genetics
Jianli ZhengYun Zhou

Abstract

Our aim was to evaluate the clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications. In eight counties and districts of Yancheng, we studied 13,149 pregnant women with different indications who were offered NIPT for fetal screening, including for sex chromosomal aneuploidies (SCAs), rare autosomal trisomies (RATs), and subchromosomal copy number variations (CNVs). The purpose was to compare the detection of positive predictive values (PPVs) of different indications with the use of NIPT. The results were validated by karyotyping, chromosomal microarray analysis (CMA), or follow-up of pregnancy outcomes. 13,149 maternal plasma samples were sequenced, among which 28 samples (0.2%) failed the sequencing quality control. The remaining 13,121 samples were analyzed, and birth follow-up missed 2,192 samples (16.7%). The PPVs of NIPT results for trisomy 21 (T21) and trisomy 18 (T18) and SCAs were 96.67, 63.64, and 31.34%, respectively. Among the advanced maternal age (AMA), serum screening high risk (SSHR), serum screening intermediate risk (SSIR), and voluntary screening (VS) groups, the PPVs for the common trisomies were 81.25, 85.71, 100, and 70%, respectively; the PPVs for total chr...Continue Reading

References

Apr 12, 2002·Journal of Medical Screening·J K MorrisE Alberman
Jul 22, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Debra BakerCarol Guze
Apr 25, 2006·Prenatal Diagnosis·George M SavvaEva Alberman
Jun 12, 2009·The New England Journal of Medicine·Deborah A Driscoll, Susan Gross
Jan 7, 2011·Prenatal Diagnosis·Kypros H Nicolaides
Mar 1, 2012·Obstetrics and Gynecology·Diana W BianchiUNKNOWN MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group
Jan 15, 2013·American Journal of Human Genetics·Anupama SrinivasanRichard P Rava
Mar 16, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·April L HallGail H Vance
Jun 8, 2013·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M M GilK H Nicolaides
Feb 28, 2014·The New England Journal of Medicine·Diana W BianchiUNKNOWN CARE Study Group
Dec 6, 2014·American Journal of Obstetrics and Gynecology·Ronald J WapnerPeter Benn
Jan 20, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·H ZhangW Wang
Jun 13, 2015·Journal of Health Communication·Julia Grinshpun-CohenDena Towner
Jul 15, 2015·JAMA : the Journal of the American Medical Association·Diana W BianchiMeredith Halks-Miller
Jul 1, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Graziano PesciaBernard Conrad
Apr 20, 2017·Prenatal Diagnosis·Francesco FiorentinoFrancesca Spinella
Mar 5, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Desheng LiangLingqian Wu

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Methods Mentioned

BETA
blood collection

Software Mentioned

KaryoStudio

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