Putting genome-wide sequencing in neonates into perspective

  • A Correction to this article was published on 21 November 2018

Abstract

Purpose

Several studies have reported diagnostic yields up to 57% for rapid exome or genome sequencing (rES/GS) as a single test in neonatal intensive care unit (NICU) patients, but the additional yield of rES/GS compared with other available diagnostic options still remains unquantified in this population.

Methods

We retrospectively evaluated all genetic NICU consultations in a 2-year period.

Results

In 132 retrospectively evaluated NICU consultations 27 of 32 diagnoses (84.4%) were made using standard genetic workup. Most diagnoses (65.6%) were made within 16 days. Diagnostic ES yield was 5/29 (17.2%). Genetic diagnoses had a direct effect on clinical management in 90.6% (29/32) of patients.

Conclusions

Our study shows that exome sequencing has a place in NICU diagnostics, but given the associated costs and the high yield of alternative diagnostic strategies, we recommend to first perform clinical genetic consultation.

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Fig. 1

Change history

  • 21 November 2018

    The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Article.

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Author information

Correspondence to Gijs W. E. Santen MD, PhD.

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The authors declare no conflicts of interest.

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van der Sluijs, P.J., Aten, E., Barge-Schaapveld, D.Q.C.M. et al. Putting genome-wide sequencing in neonates into perspective. Genet Med 21, 1074–1082 (2019). https://doi.org/10.1038/s41436-018-0293-0

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Keywords

  • ES
  • NICU
  • clinical geneticists
  • rapid
  • sequencing

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