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Published on: August 15, 2019
The Unrecognized Mortality Burden of Genetic Disorders in Infancy
Monica H Wojcik1, Rachel Stadelmaier1, Dominique Heinke1
1Monica H. Wojcik and Pankaj B. Agrawal are with the Division of Newborn Medicine and Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA. Rachel Stadelmaier is with the Department of Pediatrics, Boston Children's Hospital and Harvard Medical School. Dominique Heinke is with the Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health and Harvard T. H. Chan School of Public Health, Harvard University, Boston. Ingrid A. Holm and Wen-Hann Tan are with the Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School.
Insights
National infant mortality statistics inaccurately represent deaths from genetic disorders. Improved genetic testing and death reporting are crucial for accurate vital statistics.
Area of Science:
- Genetics and Genomics
- Public Health Surveillance
- Pediatric Mortality
Background:
- Genetic disorders are a significant cause of infant mortality.
- Accurate vital statistics are essential for understanding public health trends.
- Current mortality data may not fully capture the impact of genetic conditions.
Purpose of the Study:
- To evaluate the accuracy of national mortality statistics in describing infant deaths with genetic diagnoses.
- To identify discrepancies in the coding of genetic disorders as causes of infant death.
Main Methods:
- Retrospective cohort study using National Death Index (NDI) and clinical data.
- Analysis of mortality data for 517 infants who died before one year of age (2011-2017).
- Comparison of confirmed genetic diagnoses with International Classification of Diseases, 10th Revision (ICD-10) coding.
Main Results:
- 22% of deceased infants had a confirmed genetic disorder diagnosis.
- Only 53% of these deaths were coded to relevant ICD-10 categories (Q00-Q99).
- Chromosomal disorders were more frequently coded than monogenic conditions, indicating underrepresentation of monogenic causes.
Conclusions:
- Vital statistics do not accurately reflect the contribution of genetic disorders to infant mortality.
- Inconsistencies in death reporting lead to underestimation of genetic disorder impact.
- Enhanced genetic testing access and clearer death reporting are necessary for accurate vital statistics.
Abstract:
Objectives. To determine how deaths of infants with genetic diagnoses are described in national mortality statistics. Methods. We present a retrospective cohort study of mortality data, obtained from the National Death Index (NDI), and clinical data for 517 infants born from 2011 to 2017 who died before 1 year of age in the United States. Results. Although 115 of 517 deceased infants (22%) had a confirmed diagnosis of a genetic disorder, only 61 of 115 deaths (53%) were attributed to International Classification of Diseases, 10th Revision codes representing congenital anomalies or genetic disorders (Q00-Q99) as the underlying cause of death because of inconsistencies in death reporting. Infants with genetic diagnoses whose underlying causes of death were coded as Q00-Q99 were more likely to have chromosomal disorders than monogenic conditions (43/61 [70%] vs 18/61 [30%]; P < .001), which reflects the need for improved accounting for monogenic disorders in mortality statistics. Conclusions. Genetic disorders, although a leading cause of infant mortality, are not accurately captured by vital statistics. Public Health Implications. Expanded access to genetic testing and further clarity in death reporting are needed to describe properly the contribution of genetic disorders to infant mortality.
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