Medical College of Wisconsin
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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn 2015 Nov;35(11):1073-8 PMID: 26147564

Pubmed ID



OBJECTIVE: Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however little has been reported regarding its utility in a prenatal setting. The goal of this study is to describe the results from a cohort of fetuses for which exome sequencing was performed.

METHODS: We performed a retrospective analysis of the first seven cases referred to our laboratory for exome sequencing following fetal demise or termination of pregnancy. All seven pregnancies had multiple congenital anomalies identified by level II ultrasound. Exome sequencing was performed on trios using cultured amniocytes or products of conception from the affected fetuses.

RESULTS: Relevant alterations were identified in more than half of the cases (4/7). Three of the four were categorized as 'positive' results, and one of the four was categorized as a 'likely positive' result. The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence.

CONCLUSION: 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.

Author List

Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S


Donald Basel MD Chief, Associate Professor in the Pediatrics department at Medical College of Wisconsin


2-s2.0-84945477018   30 Citations

MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Abortion, Induced
Collagen Type I
Congenital Abnormalities
Fetal Death
Genetic Testing
Glycogen Debranching Enzyme System
Glycogen Storage Disease Type IV
Orofaciodigital Syndromes
Osteogenesis Imperfecta
Retrospective Studies
Sequence Analysis, DNA
Ultrasonography, Prenatal
jenkins-FCD Prod-300 626508253d14e4184314fb9f66322a03a5906796