An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

ABSTRACT:

Purpose

We investigated the diagnostic and clinical performance of trio exome sequencing (ES) in parent-fetus trios where the fetus had sonographic abnormalities but normal karyotype, microarray and, in some cases, normal gene-specific sequencing.

Methods

ES was performed from DNA of 102 anomalous fetuses and from peripheral blood from their parents. Parents provided consent for the return of diagnostic results in the fetus, medically actionable findings in the parents, and identification as carrier couple for significant autosomal recessive conditions.

Results

In 21/102 (20.6%) fetuses, ES provided a positive-definitive or positive-probable diagnosis. In 10/102 (9.8%), ES provided an inconclusive-possible result. At least 2/102 (2.0%) had a repeat pregnancy during th

SUBMITTER: Vora NL 

PROVIDER: S-EPMC7205580 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature