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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.
Affiliation
  • van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Aten E; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Bökenkamp-Gramann R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Donker Kaat L; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Doorn R; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van de Putte DF; Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ten Harkel ADJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Hilhorst-Hofstee Y; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van Ierland Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Koopmans M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kriek M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Peeters-Scholte CMPCD; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Potjer TP; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • van Rij M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Steggerda SJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Suerink M; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Tan RNGB; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Tuin K; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Visser R; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Werf-'t Lam AS; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
  • Williams M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Witlox R; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Santen GWE; Department of Pediatrics, Division of Neonatology, Leiden University Medical Center, Leiden, The Netherlands.
Genet Med ; 21(5): 1074-1082, 2019 05.
Article in En | MEDLINE | ID: mdl-30287924
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Infant, Newborn, Diseases Type of study: Observational_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Netherlands
Fulltext
Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Infant, Newborn, Diseases Type of study: Observational_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Netherlands