Open AccessThe Unrecognized Mortality Burden of Genetic Disorders in Infancy
Author(s) -
Monica H. Wojcik,
Rachel Stadelmaier,
Dominique Heinke,
Ingrid A. Holm,
WenHann Tan,
Pankaj B. Agrawal
Publication year - 2021
Publication title -
american journal of public health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.284
H-Index - 264
eISSN - 1541-0048
pISSN - 0090-0036
DOI - 10.2105/ajph.2021.306275
Subject(s) - medicine , cause of death , pediatrics , genetic testing , public health , medical diagnosis , cohort , infant mortality , retrospective cohort study , national death index , demography , environmental health , population , pathology , disease , confidence interval , hazard ratio , sociology
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.