Putting genome-wide sequencing in neonates into perspective

Pleuntje J. van der Sluijs, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Emilia K. Bijlsma, Regina Bökenkamp-Gramann, Laura Donker Kaat, Remco van Doorn, Dietje Fransen van de Putte, Arie van Haeringen, Arend D.J. ten Harkel, Yvonne Hilhorst-Hofstee, Mariette J.V. Hoffer, Nicolette S. den Hollander, Yvette van Ierland, Marije Koopmans, Marjolein Kriek, Setareh Moghadasi, Esther A.R. Nibbeling, Cacha M.P.C.D. Peeters-Scholte, Thomas P. PotjerMaartje van Rij, Claudia A.L. Ruivenkamp, Julie W. Rutten, Sylke J. Steggerda, Manon Suerink, Ratna N.G.B. Tan, Karin van der Tuin, Remco Visser, Anne Sophie van der Werf –’t Lam, Monique Williams, Ruben Witlox, Gijs W.E. Santen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)1074-1082
Number of pages9
JournalGenetics in Medicine
Volume21
Issue number5
DOIs
Publication statusPublished - 1 May 2019
Externally publishedYes

Keywords

  • clinical geneticists
  • ES
  • NICU
  • rapid
  • sequencing

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