Abstract
IntroductionNon-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and validated. The purpose of this study is to evaluate the performance of the Veracity NIPT test for sex chromosome aneuploidy (SCA) detection in singleton pregnancies, autosomal aneuploidy detection in twin pregnancies and evaluation of Veracity clinical performance under routine NIPT conditions in a diverse cohort.MethodsBlinded retrospective study in singleton pregnancies (n = 305); blinded retrospective and prospective study in twin pregnancies (n = 306) and prospective evaluation of clinical performance in singleton and twin pregnancies (n = 10564).ResultsValidation study results for the detection of SCAs in singleton pregnancies exhibited 100% sensitivity and specificity and correctly classified 7 (45,X), 4 (47,XXY), 2 (47,XXX) and 1 (47,XYY) cases. Validation study results for autosomal aneuploidy detection in twin pregnancies exhibited 100% sensitivity and specificity and correctly classified 3 trisomy 21, 1 trisomy 18 and 1 trisomy 13 samples. Clinical performance evaluation of Veracity was performed in 10564 pregnancies with median gestational age of 13 weeks, median maternal age 35 years and median gestational weight of 64 kg. Based on confirmation feedback the PPV for trisomies 21, 18 and 13 was estimated at 100% (95% CI, 92–100%), 100% (95% CI, 69–100%) and 71% (95% CI, 29–96%), respectively. Estimated PPV for Monosomy X was 57% (95%CI, 18–90%), while the NPV for SCA detection was estimated at 100% (95% CI, 99.94–100%).ConclusionVeracity NIPT test is based on a very powerful, highly accurate methodology that can be safely applied in the clinical setting.
Highlights
Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA has been widely adopted in clinical practice due to its improved accuracy
For the detection of sex chromosome aneuploidies (SCAs), the clinical performance of Veracity was assessed in a blinded retrospective validation study of a total of 305 plasma samples
This study provides further proof of the high accuracy of NIPT compared to conventional screening methods
Summary
Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy, compared to traditional screening approaches using measurements of nuchal translucency and biochemical analytes. A number of NIPT tests based on targeted and whole genome-based technologies, mainly employing NextGeneration Sequencing (NGS), have been developed and validated [3,4,5,6]. These technologies rely on the ability to detect increases in cfDNA arising from the presence of an extra fetal chromosome. It is imperative to develop and implement high fidelity NIPT tests which allow accurate fetal fraction quantification and as such can be offered to a wide range of pregnancies
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