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Genetic testing strategies in the newborn

Journal of Perinatology volume 40, pages 1007–1016 (2020)Cite this article

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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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Fig. 1: This figure outlines a diagnostic approach to a neonate with muliple congenital anomalies.
Fig. 2: Next generation sequencing: DNA is extracted from the patient sample and fragmented.

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Acknowledgements

The authors would like to thank Lisa Salz, LCGC, and Mary Willis, MD, PhD, for their critical edits regarding pretest counseling.

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Authors and Affiliations

  1. Department of Pediatrics, University of California, La Jolla, CA, USA

    Jeanne Carroll & Kristen Wigby

  2. Division of Neonatology, Rady Children’s Hospital, San Diego, CA, USA

    Jeanne Carroll

  3. Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA

    Jeanne Carroll & Kristen Wigby

  4. Division of Genetics/Dysmorphology, Rady Children’s Hospital, San Diego, CA, USA

    Kristen Wigby

  5. Department of Pathology, University of California San Diego, La Jolla, CA, USA

    Sarah Murray

  6. Center for Advanced Laboratory Medicine, University of California San Diego Health, La Jolla, CA, USA

    Sarah Murray

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Correspondence to Jeanne Carroll.

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Carroll, J., Wigby, K. & Murray, S. Genetic testing strategies in the newborn. J Perinatol 40, 1007–1016 (2020). https://doi.org/10.1038/s41372-020-0697-y

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