Journal Article

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis

Tang, Sha, Powis, Zöe, Mowlavi, Layla S, Tilstra, David, Hunter, Jesse M, Blanco, Kirsten, Speare, Virginia, Mayerhofer, Emily M, Tsang, Marilyn, Farwell Hagman, Kelly D, Vedder, Timothy, Cain, Taylor, Vockley, Gerald, Gonzalez, Lina

2018

Overview

Purpose Neonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES. Methods The clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed. Results Clinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days. Conclusion Our observations demonstrate the utility of family-based exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.

• Publisher: Nature Publishing Group US,Elsevier Limited
• Subject: Biomedical and Life Sciences / Biomedicine / Brief Communication / Congenital diseases / Disease / Exome - genetics / Female / Genes / Genetic counseling / Genetic Diseases, Inborn - diagnosis / Genetic Diseases, Inborn - genetics / Genetic disorders / Genetic testing / Genetics / Genomics / Genotype & phenotype / Human Genetics / Humans / Infant, Newborn / Laboratory Medicine / Male / Mutation / Pathology, Molecular - methods / Postpartum period / Retrospective Studies / Sequence Analysis, DNA / Whole Exome Sequencing - methods