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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Author(s) -
Alamillo Christina L.,
Powis Zöe,
Farwell Kelly,
Shahmirzadi Layla,
Weltmer Elaine C.,
Turocy John,
Lowe Thomas,
Kobelka Christine,
Chen Emily,
Basel Donald,
Ashkinadze Elena,
D'Augelli Lisa,
Chao Elizabeth,
Tang Sha
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4648
Subject(s) - exome sequencing , exome , medicine , prenatal diagnosis , genetic counseling , osteogenesis imperfecta , pregnancy , retrospective cohort study , fetus , obstetrics , cohort , pediatrics , genetics , pathology , mutation , biology , gene
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. © 2015 John Wiley & Sons, Ltd.