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DOI 10.1038/s41436-018-0293-0

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2018

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

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Аннотация

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.

Для цитирования: 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. Putting genome-wide sequencing in neonates into perspective.. Genetics in medicine : official journal of the American College of Medical Genetics. 2018. DOI: 10.1038/s41436-018-0293-0.

Предметные рубрики MeSH

Chromosome MappingExomeFemaleGenetic TestingGenome-Wide Association StudyHumansInfant, NewbornInfant, Newborn, DiseasesIntensive Care, NeonatalMaleRetrospective StudiesExome Sequencing
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