Association of copy number variants with specific ultrasonographically detected fetal anomalies.

ABSTRACT:

Objective

To evaluate the association of other-than-common benign copy number variants with specific fetal abnormalities detected by ultrasonogram.

Methods

Fetuses with structural anomalies were compared with fetuses without detected abnormalities for the frequency of other-than-common benign copy number variants. This is a secondary analysis from the previously published National Institute of Child Health and Human Development microarray trial. Ultrasound reports were reviewed and details of structural anomalies were entered into a nonhierarchical web-based database. The frequency of other-than-common benign copy number variants (ie, either pathogenic or variants of uncertain significance) not detected by karyotype was calculated for each anomaly in isolation and in the pre

SUBMITTER: Donnelly JC 

PROVIDER: S-EPMC4111105 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature