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.

, , , ,
doi.org/10.1038/s41436-018-0293-0, hdl.handle.net/1765/110952
Genetics in Medicine
Department of Neurology

van der Sluijs, P.J, Aten, J.A, Barge-Schaapveld, D.Q.C.M, Bijlsma, E.K, Bökenkamp-Gramann, R. (Regina), Donker Kaat, L, … Santen, G.W.E. (2018). Putting genome-wide sequencing in neonates into perspective. Genetics in Medicine. doi:10.1038/s41436-018-0293-0