@article {768, title = {The utility of exome sequencing for fetal pleural effusions.}, journal = {Prenat Diagn}, volume = {40}, year = {2020}, month = {2020 04}, pages = {590-595}, abstract = {

OBJECTIVE: We sought to evaluate the performance of exome sequencing (ES) in determining an underlying genetic etiology for cases of fetal pleural effusions.

STUDY DESIGN: We examined a prospective cohort series of fetal pleural effusions visualized sonographically between 1 April 2016 and 31 August 2017. Fetal pleural effusions attributed to twin sharing, anemia, or structural anomalies were excluded, as were all cases with a genetic diagnosis established by karyotype or chromosomal microarray analysis. The remaining cases with pleural effusions of unclear etiology were offered ES. ES was performed by clinical sequencing and/or sequencing under the Baylor-Hopkins Center for Mendelian Genomics{\textquoteright} (BHCMG) research platform. All cases were evaluated for novel genes or phenotypic expansion of disease-causing genes.

RESULTS: ES was performed on six probands affected by pleural effusions. A pathogenic variant was identified in one case (16.7\%). Four additional cases had variants of uncertain significance (VUS) in candidate genes of pathological interest. Neither clinical nor candidate genes were evident in the final case.

CONCLUSION: ES should be considered in the evaluation of prenatally detected idiopathic pleural effusions when other diagnostic workup for a genetic etiology has failed.

}, issn = {1097-0223}, doi = {10.1002/pd.5650}, author = {Jelin, Angie C and Sobreira, Nara and Wohler, Elizabeth and Solomon, Benjamin and Sparks, Teresa and Sagaser, Katelynn G and Forster, Katherine R and Miller, Jena and Witmer, P Dane and Hamosh, Ada and Valle, David and Blakemore, Karin} }