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

Genet Med 2018 11 22;20(11):1468-1471. Epub 2018 Mar 22.

Ambry Genetics, Aliso Viejo, California, USA.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2018.11DOI Listing
November 2018
13 Reads

Publication Analysis

Top Keywords

neonatal patients
16
exome sequencing
12
patients undergoing
8
diagnostic rates
8
patients
6
majority patients
4
379% majority
4
patients structural
4
anomalies birth
4
dysmorphic features
4
defects dysmorphic
4
birth defects
4
patients 379%
4
structural anomalies
4
relevant findings
4
histories neonatal
4
undergoing des
4
clinical histories
4
desmethods clinical
4
undergoing desmethods
4

Similar Publications