Clinical utility of array comparative genomic hybridisation in prenatal setting.

ABSTRACT:

Background

The objective of reported study was to evaluate the clinical utility of prenatal microarray testing for submicroscopic genomic imbalances in routine prenatal settings and to stratify the findings according to the type of fetal ultrasound anomaly.

Methods

From July 2012 to October 2015 chromosomal microarray testing was performed in 218 fetuses with varying indications for invasive prenatal diagnosis: abnormal karyotype, ultrasound anomalies, pathogenic variant in previous pregnancy or carriership in a parent.

Results

The detection rate in the group of fetuses with ultrasound anomalies was 10,0% for pathogenic copy number variants (CNVs), five of them being larger than 8 Mb and expected to be seen on prenatal karyotype. If only those pathogenic CNVs below th

SUBMITTER: Lovrecic L 

PROVIDER: S-EPMC5111187 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature