In:
Fetal Diagnosis and Therapy, S. Karger AG, Vol. 40, No. 3 ( 2016), p. 219-223
Abstract:
〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 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.
Type of Medium:
Online Resource
ISSN:
1015-3837
,
1421-9964
Language:
English
Publisher:
S. Karger AG
Publication Date:
2016
detail.hit.zdb_id:
1482292-1
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