Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
Posted on 2019-07-15 - 05:00
Abstract Introduction 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. 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. Methods Blinded 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). Results Validation 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%). Conclusion Veracity NIPT test is based on a very powerful, highly accurate methodology that can be safely applied in the clinical setting.
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Kypri, Elena; Ioannides, Marios; Touvana, Evi; Neophytou, Ioanna; Mina, Petros; Velissariou, Voula; et al. (2019). Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4577714
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AUTHORS (13)
EK
Elena Kypri
MI
Marios Ioannides
ET
Evi Touvana
IN
Ioanna Neophytou
PM
Petros Mina
VV
Voula Velissariou
SV
Spiros Vittas
AS
Alfredo Santana
FA
Filippos Alexidis
KT
Kyriakos Tsangaras
AA
Achilleas Achilleos
PP
Philippos Patsalis
GK
George Koumbaris