Chromosomal microarray versus karyotyping for prenatal diagnosis.

ABSTRACT:

Background

Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis.

Methods

Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray.

Results

We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), st

SUBMITTER: Wapner RJ 

PROVIDER: S-EPMC3549418 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature