Infant mortality: the contribution of genetic disorders.

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, i

SUBMITTER: Wojcik MH 

PROVIDER: S-EPMC6879816 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature