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.

clinical geneticists, ES, NICU, rapid, sequencing
dx.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