Infant mortality: the contribution of genetic disorders

Monica H Wojcik; Talia S Schwartz; Katri E Thiele; Heather Paterson; Rachel Stadelmaier; Thomas E Mullen; Grace E VanNoy; Casie A Genetti; Jill A Madden; Cynthia S Gubbels; Timothy W Yu; Wen-Hann Tan; Pankaj B Agrawal

doi:10.1038/s41372-019-0451-5

Infant mortality: the contribution of genetic disorders

J Perinatol. 2019 Dec;39(12):1611-1619. doi: 10.1038/s41372-019-0451-5. Epub 2019 Aug 8.

Authors

Monica H Wojcik^{1

2

3

4

5}, Talia S Schwartz^{6

7}, Katri E Thiele^{8

7

9}, Heather Paterson^{6

7}, Rachel Stadelmaier⁶, Thomas E Mullen¹⁰, Grace E VanNoy^{6

7

10}, Casie A Genetti^{6

7}, Jill A Madden^{6

7}, Cynthia S Gubbels^{6

7

10}, Timothy W Yu^{6

7

10}, Wen-Hann Tan⁶, Pankaj B Agrawal^{8

6

7

11

10}

Affiliations

¹ Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. [email protected].
² Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. [email protected].
³ The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. [email protected].
⁴ The Neonatal Genomics Program, Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. [email protected].
⁵ The Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. [email protected].
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.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Chromosome Disorders / epidemiology
Chromosome Disorders / mortality
Female
Genetic Diseases, Inborn / epidemiology
Genetic Diseases, Inborn / mortality*
Humans
Infant
Infant Death / etiology
Infant Mortality*
Infant, Newborn
Male
Prevalence
Retrospective Studies
United States / epidemiology

Abstract

Publication types

MeSH terms

Grants and funding