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Infant mortality: the contribution of genetic disorders

Monica H Wojcik1,2,3,4,5, Talia S Schwartz6,7, Katri E Thiele8,7,9

  • 1Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Monica.Wojcik@childrens.harvard.edu.

Journal of Perinatology : Official Journal of the California Perinatal Association
|August 10, 2019
PubMed

Insights

Genetic disorders account for 22% of infant deaths, a higher prevalence than previously known. Further research is crucial to understand the full impact of these genetic conditions on infant mortality.

Area of Science:

  • Medical Genetics
  • Pediatric Pathology
  • Molecular Diagnostics

Background:

  • Infant mortality remains a significant public health concern.
  • The contribution of genetic disorders to infant deaths requires precise quantification.
  • Understanding the genetic basis of infant mortality can inform diagnostic and therapeutic strategies.

Purpose of the Study:

  • To ascertain the proportion of infant deaths associated with confirmed genetic disorders.
  • To analyze the types of genetic abnormalities contributing to infant mortality.
  • To evaluate trends in genetic diagnoses over time.

Main Methods:

  • Retrospective analysis of electronic medical records for infants deceased before one year of age.
  • Inclusion criteria: infants born between January 1, 2011, and June 1, 2017.
  • Confirmation of genetic disorders through clinical molecular or cytogenetic testing and research diagnostics.

Main Results:

  • A total of 573 infant deaths were analyzed.
  • Confirmed genetic disorders were identified in 124 infants (22%).
  • Chromosomal abnormalities (54%) and single-gene disorders (47%) were the primary genetic causes, with some infants having both.

Conclusions:

  • The prevalence of confirmed genetic disorders in infant deaths is higher than previously reported.
  • Sequencing technologies, including exome sequencing, are increasingly utilized for genetic diagnoses in this population.
  • Further investigation is essential to fully comprehend the mortality burden of genetic disorders in infancy.
Abstract

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