Exome Sequencing in Neonates: Diagnostic Rates, Characteristics and Time to Diagnosis

Specialty Areas:

Date: March 26, 2018

Authors:

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

Journal: Genetic Medicine

Note: Our recent publication in Genetic in Medicine demonstrates Ambry’s ExomeNext-Rapid produces: • 38% diagnostic yield in this vulnerable population • Results reported within 8 days on average • Exome testing in neonate should be considered as the first-line testing for diagnosing critically-ill newborns

Topics:

Rare Disease

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Abstract

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.