SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.

ABSTRACT:

Objective

This study aimed to develop a single-nucleotide polymorphism-based and informatics-based non-invasive prenatal test that detects sex chromosome aneuploidies early in pregnancy.

Methods

Sixteen aneuploid samples, including thirteen 45,X, two 47,XXY, and one 47,XYY, along with 185 euploid controls, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that targeted 19,488 polymorphic loci covering chromosomes 13, 18, 21, X, and Y, and sequenced. Sequencing results were analyzed using a Bayesian-based maximum likelihood statistical method to determine copy number of interrogated chromosomes, calculating sample-specific accuracies.

Results

Of the samples that passed a stringent quality con

SUBMITTER: Samango-Sprouse C 

PROVIDER: S-EPMC3764608 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature