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. 2019 May;21(5):1074-1082.
doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5.

Putting genome-wide sequencing in neonates into perspective

Pleuntje J van der Sluijs  1 , Emmelien Aten  1 , Daniela Q C M Barge-Schaapveld  1 , Emilia K Bijlsma  1 , Regina Bökenkamp-Gramann  2 , Laura Donker Kaat  1   3 , Remco van Doorn  4 , Dietje Fransen van de Putte  1 , Arie van Haeringen  1 , Arend D J Ten Harkel  2 , Yvonne Hilhorst-Hofstee  1 , Mariette J V Hoffer  1 , Nicolette S den Hollander  1 , Yvette van Ierland  1 , Marije Koopmans  1 , Marjolein Kriek  1 , Setareh Moghadasi  1 , Esther A R Nibbeling  1 , Cacha M P C D Peeters-Scholte  5 , Thomas P Potjer  1 , Maartje van Rij  1 , Claudia A L Ruivenkamp  1 , Julie W Rutten  1 , Sylke J Steggerda  6 , Manon Suerink  1 , Ratna N G B Tan  6 , Karin van der Tuin  1 , Remco Visser  6 , Anne-Sophie van der Werf-'t Lam  1 , Monique Williams  7 , Ruben Witlox  6 , Gijs W E Santen  8
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Free article

Putting genome-wide sequencing in neonates into perspective

Pleuntje J van der Sluijs et al. Genet Med. 2019 May.
Free article

Erratum in

  • Correction: Putting genome-wide sequencing in neonates into perspective.
    van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259

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.

Keywords: ES; NICU; clinical geneticists; rapid; sequencing.

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