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Infant mortality: the contribution of genetic disorders

Journal of Perinatology volume 39, pages 1611–1619 (2019)Cite this article

Subjects

Abstract

Objective

To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder.

Study design

A retrospective analysis of the electronic medical records of infants born from 1 January, 2011 to 1 June, 2017, who died prior to 1 year of age.

Results

Five hundred and seventy three deceased infants were identified. One hundred and seventeen were confirmed to have a molecular or cytogenetic diagnosis in a clinical diagnostic laboratory and an additional seven were diagnosed by research testing for a total of 124/573 (22%) diagnosed infants. A total of 67/124 (54%) had chromosomal disorders and 58/124 (47%) had single gene disorders (one infant had both). The proportion of diagnoses made by sequencing technologies, such as exome sequencing, increased over the years.

Conclusions

The prevalence of confirmed genetic disorders within our cohort of infant deaths is higher than that previously reported. Increased efforts are needed to further understand the mortality burden of genetic disorders in infancy.

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Acknowledgements

We would like to thank the patients and families whom we care for at our hospital who continue to teach and enrich us all. MHW is supported by NIH T32 GM007748. PBA is supported by NICHD/NHGRI/NIH U19HD077671. CSG was supported by a Harvard University Milton Fund award. TWY is supported by NIH/NIMH R01MH113761 and NICHD/NHGRI/NIH U19HD077671. KET received research support from the Summer Student Research Program of the Division of Newborn Medicine at Boston Children’s Hospital and Harvard Medical School and from The Brody School of Medicine at East Carolina University. The Broad Center for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute. We appreciate the assistance of Anthony Capraro, MD (Department of Emergency Medicine, Boston Children’s Hospital) in identifying our cohort of deceased infants.

Funding

Supported by the National Institutes of Health (NIH T32 GM007748 [to MHW], and NICHD/NHGRI/NIH U19HD077671 [to PBA], NIH/NIMH R01MH113761 and NICHD/NHGRI/NIH U19HD077671 [to TWY]). Additional support provided by Harvard University (to CSG) and Boston Children’s Hospital/Harvard Medical School and from The Brody School of Medicine at East Carolina University (to KET). The Broad Center for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute.

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Author notes

  1. These authors jointly supervised this work: Wen-Hann Tan, Pankaj B. Agrawal

Authors and Affiliations

  1. Division of Newborn Medicine, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Monica H. Wojcik, Katri E. Thiele & Pankaj B. Agrawal

  2. Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Monica H. Wojcik, Talia S. Schwartz, Heather Paterson, Rachel Stadelmaier, Grace E. VanNoy, Casie A. Genetti, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Wen-Hann Tan & Pankaj B. Agrawal

  3. The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Monica H. Wojcik, Talia S. Schwartz, Katri E. Thiele, Heather Paterson, Grace E. VanNoy, Casie A. Genetti, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu & Pankaj B. Agrawal

  4. The Neonatal Genomics Program, Division of Newborn Medicine, Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA

    Monica H. Wojcik & Pankaj B. Agrawal

  5. The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA

    Monica H. Wojcik, Thomas E. Mullen, Grace E. VanNoy, Cynthia S. Gubbels, Timothy W. Yu & Pankaj B. Agrawal

  6. The Brody School of Medicine at East Carolina University, Greenville, NC, 27834, USA

    Katri E. Thiele

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  1. Monica H. Wojcik
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Correspondence to Monica H. Wojcik.

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The authors have no conflicts of interest relevant to this article to disclose (TEM is currently an employee of Quest Diagnostics who performed the work pertaining to this article while at the Broad Institute of MIT and Harvard).

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Wojcik, M.H., Schwartz, T.S., Thiele, K.E. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611–1619 (2019). https://doi.org/10.1038/s41372-019-0451-5

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