Infant mortality: the contribution of genetic disorders.

TitleInfant mortality: the contribution of genetic disorders.
Publication TypeJournal Article
Year of Publication2019
AuthorsWojcik, MH, Schwartz, TS, Thiele, KE, Paterson, H, Stadelmaier, R, Mullen, TE, VanNoy, GE, Genetti, CA, Madden, JA, Gubbels, CS, Yu, TW, Tan, W-H, Agrawal, PB
JournalJ Perinatol
Volume39
Issue12
Pagination1611-1619
Date Published2019 Dec
ISSN1476-5543
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.
DOI10.1038/s41372-019-0451-5
Alternate JournalJ Perinatol
PubMed ID31395954
PubMed Central IDPMC6879816
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
1R01AR068429-01 / / U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) /
U19 HD077671 / HD / NICHD NIH HHS / United States
R01 MH113761 / MH / NIMH NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States
U19HD077671 / / U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) /