OBJECTIVE: To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS: Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 trisomy 18, 15 trisomy 13, 9 monosomy X, 4 triploidy and 338 euploid). Sensitivity, specificity and no-call rate were calculated, and a fetal-fraction adjustment was applied to enable projection of these values in a commercial distribution. Likelihood of success of a second blood draw was computed based on fetal fraction and maternal weight from the first draw. RESULTS: Validation of this methodology yielded high sensitivities (≥99.4%) and specificities (100%) for all conditions tested with an observed no-call rate of 2.3%. The no-call threshold for sample calling was reduced to 2.8% fetal fraction. The redraw success rate was driven by higher initial fetal fractions and lower maternal weights, with the fetal fraction being the more significant variable. CONCLUSIONS: The enhanced version of this SNP-based NIPT method showed a reduced no-call rate and a reduced fetal-fraction threshold for sample calling in comparison to the earlier version, while maintaining high sensitivity and specificity.
OBJECTIVE: To validate an updated version (Version 2) of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test (NIPT) and to determine the likelihood of success when testing for fetal aneuploidies following a redraw. METHODS: Version 2 was analytically validated using 587 plasma samples with known genotype (184 trisomy 21, 37 trisomy 18, 15 trisomy 13, 9 monosomy X, 4 triploidy and 338 euploid). Sensitivity, specificity and no-call rate were calculated, and a fetal-fraction adjustment was applied to enable projection of these values in a commercial distribution. Likelihood of success of a second blood draw was computed based on fetal fraction and maternal weight from the first draw. RESULTS: Validation of this methodology yielded high sensitivities (≥99.4%) and specificities (100%) for all conditions tested with an observed no-call rate of 2.3%. The no-call threshold for sample calling was reduced to 2.8% fetal fraction. The redraw success rate was driven by higher initial fetal fractions and lower maternal weights, with the fetal fraction being the more significant variable. CONCLUSIONS: The enhanced version of this SNP-based NIPT method showed a reduced no-call rate and a reduced fetal-fraction threshold for sample calling in comparison to the earlier version, while maintaining high sensitivity and specificity.
Authors: Giulio Genovese; Curtis J Mello; Po-Ru Loh; Robert E Handsaker; Seva Kashin; Christopher W Whelan; Lucy A Bayer-Zwirello; Steven A McCarroll Journal: Sci Rep Date: 2022-07-14 Impact factor: 4.996
Authors: Tara K Sigdel; Felipe Acosta Archila; Tudor Constantin; Sarah A Prins; Juliane Liberto; Izabella Damm; Parhom Towfighi; Samantha Navarro; Eser Kirkizlar; Zachary P Demko; Allison Ryan; Styrmir Sigurjonsson; Reuben D Sarwal; Szu-Chuan Hseish; Chitranon Chan-On; Bernhard Zimmermann; Paul R Billings; Solomon Moshkevich; Minnie M Sarwal Journal: J Clin Med Date: 2018-12-23 Impact factor: 4.241
Authors: Malgorzata I Srebniak; Merel C de Wit; Karin E M Diderich; Lutgarde C P Govaerts; Marieke Joosten; Maarten F C M Knapen; Marnix J Bos; Gerda A G Looye-Bruinsma; Mieke Koningen; Attie T J I Go; Robert Jan H Galjaard; Diane Van Opstal Journal: Mol Cytogenet Date: 2016-09-07 Impact factor: 2.009
Authors: S Hancock; R Ben-Shachar; C Adusei; C B Oyolu; E A Evans; H P Kang; C Haverty; D Muzzey Journal: Ultrasound Obstet Gynecol Date: 2020-09 Impact factor: 7.299