Validation of an Enhanced Version of a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Detection of Fetal Aneuploidies.

Abstract:

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.

journal_name

Fetal Diagn Ther

authors

Ryan A,Hunkapiller N,Banjevic M,Vankayalapati N,Fong N,Jinnett KN,Demko Z,Zimmermann B,Sigurjonsson S,Gross SJ,Hill M

doi

10.1159/000442931

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

219-223

issue

3

eissn

1015-3837

issn

1421-9964

pii

000442931

journal_volume

40

pub_type

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