Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

ABSTRACT:

Background

Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration into prenatal diagnosis has been more limited. One reason for this is the paucity of information about the clinical utility of exome sequencing in the prenatal setting.

Methods

We retrospectively reviewed indications, results, time to results (turnaround time, TAT), and impact of exome results for 146 consecutive "fetal exomes" performed in a clinical diagnostic laboratory between March 2012 and November 2017. We define a fetal exome as one performed on a sample obtained from a fetus or a product of conception with at least one structural anomaly detected by prenatal imaging or autopsy. Statistical comparisons were performed using Fisher's exact t

SUBMITTER: Normand EA 

PROVIDER: S-EPMC6162951 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature