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Putting genome-wide sequencing in neonates into perspective.

van der Sluijs, Pleuntje J; Aten, Emmelien; Barge-Schaapveld, Daniela Q C M; Bijlsma, Emilia K; Bökenkamp-Gramann, Regina; Donker Kaat, Laura; van Doorn, Remco; van de Putte, Dietje Fransen; van Haeringen, Arie; Ten Harkel, Arend D J; Hilhorst-Hofstee, Yvonne; Hoffer, Mariette J V; den Hollander, Nicolette S; van Ierland, Yvette; Koopmans, Marije; Kriek, Marjolein; Moghadasi, Setareh; Nibbeling, Esther A R; Peeters-Scholte, Cacha M P C D; Potjer, Thomas P; van Rij, Maartje; Ruivenkamp, Claudia A L; Rutten, Julie W; Steggerda, Sylke J; Suerink, Manon; Tan, Ratna N G B; van der Tuin, Karin; Visser, Remco; van der Werf-'t Lam, Anne-Sophie; Williams, Monique; Witlox, Ruben; Santen, Gijs W E.
Genet Med; 21(5): 1074-1082, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30287924

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.
Selo DaSilva