Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Prenatal Diagnosis2015Vol. 35(11), pp. 1073–1078
Citations Over TimeTop 1% of 2015 papers
Christina L. Alamillo, Zöe Powis, Kelly D. Farwell, Layla Shahmirzadi, Elaine Weltmer, John Turocy, Thomas W. Lowe, Christine Kobelka, Emily Chen, Donald Basel, Elena Ashkinadze, Lisa D'Augelli, Elizabeth Chao, Sha Tang
Abstract
This data suggests that exome sequencing is likely to be a valuable diagnostic testing option for pregnancies with multiple congenital anomalies detected by prenatal ultrasound; however, additional studies with larger cohorts of affected pregnancies are necessary to confirm these findings.
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