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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, 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.

SUBMITTER: Wojcik MH

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

REPOSITORIES: biostudies-literature

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Infant mortality: the contribution of genetic disorders.

Wojcik Monica H MH Schwartz Talia S TS Thiele Katri E KE Paterson Heather H Stadelmaier Rachel R Mullen Thomas E TE VanNoy Grace E GE Genetti Casie A CA Madden Jill A JA Gubbels Cynthia S CS Yu Timothy W TW Tan Wen-Hann WH Agrawal Pankaj B PB

Journal of perinatology : official journal of the California Perinatal Association 20190808 12

<h4>Objective</h4>To determine the proportion of infant deaths occurring in the setting of a confirmed genetic disorder.<h4>Study design</h4>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.<h4>Results</h4>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 addi ...[more]

PMID: 31395954

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Project description:ObjectiveTo identify current maternal and infant predictors of infant mortality, including maternal sociodemographic and economic status, maternal perinatal smoking and obesity, mode of delivery, and infant birthweight and gestational age.MethodsThis retrospective study analyzed data from the linked birth and infant death files (birth cohort) and live births from the Birth Statistical Master files (BSMF) in California compiled by the California Department of Public Health for 2007-2015. The birth cohort study comprised 4,503,197 singleton births including 19,301 infant deaths during the nine-year study period. A subpopulation to study fetal growth consisted of 4,448,300 birth cohort records including 13,891 infant deaths.ResultsThe infant mortality rate (IMR) for singleton births decreased linearly (p <0.001) from 4.68 in 2007 to 3.90 (per 1,000 live births) in 2015. However, significant disparities in IMR were uncovered in different population groups depending upon maternal sociodemographic and economic characteristics and maternal characteristics during pregnancy. Children of African American women had almost twice the risk of infant mortality when compared with children of White women (AOR 2.12; 95% CI, 1.98-2.27; p<0.001). Infants of women with Bachelor's degrees or higher were 89% less likely to die (AOR 1.89; 95% CI, 1.76-2.04; p<0.001) when compared to infants of women with education less than high school. Infants of maternal smokers were 75% more likely to die (AOR 1.75; 95% CI, 1.58-1.93; p<0.001) than infants of nonsmokers. Infants of women who were overweight and obese during pregnancy accounted for 55% of IMR over all women in the study. More than half of the infant deaths were to children of women with lower socioeconomic status; infants of WIC participants were 59% more likely to die (AOR 1.59; 95% CI, 1.52-1.67; p<0.001) than infants of non-WIC participants. With respect to infant predictors, infants born with LBW or PTB were more than six times (AOR 6.29; 95% CI, 5.90-6.70; p<0.001) and almost four times (AOR 3.95; 95% CI, 3.73-4.19; p<0.001) more likely to die than infants who had normal births, respectively. SGA and LGA infants were more than two times (AOR 2.03; 95% CI, 1.92-2.15; p<0.001) and 41% (AOR 1.41; 95% CI, 1.32-1.52; p<0.001) more likely to die than AGA infants, respectively.ConclusionsWhile the overall IMR in California is declining, wide disparities in death rates persist in different groups, and these disparities are increasing. Our data indicate that maternal sociodemographic and economic factors, as well as maternal prepregnancy obesity and smoking during pregnancy, have a prominent effect on IMR though no causality can be inferred with the current data. These predictors are not typically addressed by direct medical care. Infant factors with a major effect on IMR are birthweight and gestational age-predictors that are addressed by active medical services. The highest value interventions to reduce IMR may be social and public health initiatives that mitigate disparities in sociodemographic, economic and behavioral risks for mothers.

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Infant mortality: the contribution of genetic disorders.

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Infant mortality: the contribution of genetic disorders.

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