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Review
. 2020 Jul;40(7):1007-1016.
doi: 10.1038/s41372-020-0697-y. Epub 2020 May 29.

Genetic testing strategies in the newborn

Jeanne Carroll  1   2   3 , Kristen Wigby  4   5   6 , Sarah Murray  7   8
Affiliations
Review

Genetic testing strategies in the newborn

Jeanne Carroll et al. J Perinatol. 2020 Jul.

Abstract

Genetic disorders presenting in the neonatal period can have a significant impact on morbidity and mortality. Early diagnosis can facilitate timely prognostic counseling to families and possibility of precision care, which could improve outcome. As availability of diagnostic testing expands, the required knowledge base of the neonatologist must also expand to include proper application and understanding of genetic testing modalities, especially where availability of clinical genetics consultation is limited. Herein, we review genetic tests utilized in the neonatal intensive care unit (NICU) providing background on the technology, clinical indications, advantages, and limitations of the tests. This review will span from classic cytogenetics to the evolving role of next generation sequencing and its impact on the management of neonatal disease.

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References

    1. Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early infant deaths in a neonatal intensive care unit. J Med Genet. 2019. https://doi.org/10.1136/jmedgenet-2019-106221 .
    1. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children’s hospital. Am J Hum Genet. 2004;74:121–7. - PubMed - PMC - DOI
    1. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, et al. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med. 2019;45:627–36. - PubMed - PMC - DOI
    1. Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole genome sequencing and precision neonatology. Semin Perinatol. 2015;39:623–31. - PubMed - PMC - DOI
    1. Bainbridge MN, Wiszniewski W, Murdock DR, Friedman J, Gonzaga-Jauregui C, Newsham I, et al. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011;3:87re3. - PubMed - PMC - DOI