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Congenital heart disease and the diagnostic yield with exome sequencing (CODE study): Prospective cohort study and systematic review

Ultrasound in Obstetrics & Gynecology Jun 02, 2020

Mone F, Eberhardt RY, Morris RK, et al. - Researchers investigated the yield of antenatal exome sequencing (ES) over chromosome microarray (CMA) / conventional karyotyping in; (i) any prenatally diagnosed congenital heart disease (CHD); (ii) isolated CHD; (iii) multi‐system CHD and; (iv) CHD by phenotypic subgroup. They performed a prospective cohort study of 197 trios undergoing ES following CMA/karyotype, as CHD was recognized prenatally, and conducted a systematic review of the literature. Outcomes revealed the apparent incremental yield of prenatal exome sequencing in congenital heart disease, however, for its routine application, the adoption of robust bioinformatic, clinical and ethical pathways is required. Whilst the highest yield is noted with multi‐system anomalies, consideration may also be given to conducting ES in the presence of isolated cardiac abnormalities.

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