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Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology

Journal of Perinatology volume 38, pages 1125–1134 (2018)Cite this article

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Abstract

Infants who die within the first weeks to months of life may have genetic disorders, though many die without a confirmed diagnosis. Non-genetic conditions may also be responsible for unexplained infant deaths, and the diagnosis may be reliant upon studies performed in the peri-mortem period. Neonatologists, obstetricians, or pediatricians caring for these children and their families may be unsure of which investigations can and should be performed in the setting of a newborn or infant who is dying or has died. Recent advances in genomic sequencing technology may provide additional diagnostic options, though the interpretation of genetic variants discovered by this technique may be contingent upon clinical phenotype information that is obtained peri-mortem or upon autopsy. We have reviewed the current literature concerning the evaluation of an unexplained neonatal or infantile demise and synthesized a diagnostic approach, with a focus on the contribution of new and emerging genomic technologies.

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Acknowledgements

We thank Drs. Christine Bryke and Jonathan Hecht for their assistance in the development of an earlier version of our clinical algorithm for use at Beth Israel Deaconess Medical Center. MH Wojcik is supported by NIH T32GM007748.

Funding:

NIH T32GM007748 [MHW].

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Authors and Affiliations

  1. Division of Newborn Medicine, Department of Medicine, Boston Children’s Hospital, Boston, MA, USA

    Monica H. Wojcik

  2. Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital, Boston, MA, USA

    Monica H. Wojcik & Jonathan Picker

  3. Department of Neonatology, Beth Israel Deaconness Medical Center, Boston, MA, USA

    Monica H. Wojcik, Dara Brodsky & Jane E. Stewart

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Correspondence to Monica H. Wojcik.

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Wojcik, M.H., Brodsky, D., Stewart, J.E. et al. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol 38, 1125–1134 (2018). https://doi.org/10.1038/s41372-018-0187-7

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