Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

ABSTRACT:

Objective

The aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably.

Methods

Peripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer's modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparing the results.

Results

Using TMAP, 57 pathological samples were correctly detected (sensitivity 98.28%, specificity 93.08%): 33 samples as trisomy 21 (sensitivity 97.06%, specificity 99.45%), 16 as trisomy 18 (sensibility 88.89%, specificity 93.97%), and 6 as trisomy 13 (sensibility 100%, spe

SUBMITTER: Gomez-Manjon I 

PROVIDER: S-EPMC6011118 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature