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J Perinatol. 2019 Aug 8. doi: 10.1038/s41372-019-0451-5. [Epub ahead of print]

Infant mortality: the contribution of genetic disorders.

Wojcik MH1,2,3,4,5, Schwartz TS6,7, Thiele KE8,7,9, Paterson H6,7, Stadelmaier R6, Mullen TE10, VanNoy GE6,7,10, Genetti CA6,7, Madden JA6,7, Gubbels CS6,7,10, Yu TW6,7,10, Tan WH6, Agrawal PB8,6,7,11,10.

Author information

1
Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Monica.Wojcik@childrens.harvard.edu.
2
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Monica.Wojcik@childrens.harvard.edu.
3
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Monica.Wojcik@childrens.harvard.edu.
4
The Neonatal Genomics Program, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Monica.Wojcik@childrens.harvard.edu.
5
The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. Monica.Wojcik@childrens.harvard.edu.
6
Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
7
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
8
Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
9
The Brody School of Medicine at East Carolina University, Greenville, NC, 27834, USA.
10
The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
11
The Neonatal Genomics Program, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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.

PMID:
31395954
DOI:
10.1038/s41372-019-0451-5

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