Maternal Report of Family History of Birth Defects from the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) Restricted; Files & ToC

Bonilla, Jackie (Spring 2023)

Permanent URL: https://etd.library.emory.edu/concern/etds/6108vc69w?locale=it
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Abstract

Background: Given that birth defects are complex in etiology, family history as a measure is valuable given that it captures both genetic and environmental risk factors. Our objectives were to determine if the frequency of maternal reporting of a family history of birth defects or other conditions was higher among cases compared to controls, to determine what maternal and paternal demographic characteristics were associated with reporting a family history of birth defects or other conditions, and to determine what specific birth defects or other conditions were reported, and whether the birth defects were the same as that reported in the index child.

Methods: The Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) is a multisite, population-based, case-control study. All eligible birth defect cases and controls delivered during 2014- 2019 were included. Mothers of 2,676 case and 1,577 control infants participated in the study. Of those participants, mothers of 583 case and 241 control infants answered affirmatively to family history questions and were included in the qualitative analysis. Free-text family history questions were categorized by type of birth defect or condition reported. A chi-square test was used to assess which demographic or other characteristics were significantly associated with maternal reports of family history of birth defects or other conditions.

Results: Maternal reports of family history of a birth defect or other condition were common, reported by 583 (21.8%) case mothers and 241 (15.3%) control mothers. Demographic characteristics associated with maternal reports of family history of a birth defect or other condition included maternal and paternal race/ethnicity, maternal age, maternal and paternal education, interview language and language spoken at home, and maternal and paternal places of birth. Family history of a birth defect was reported by 261 (9.7%) case mothers and 70 (4.4%) control mothers.

Conclusion: Case mothers more frequently report a family history of birth defects or other conditions compared to control mothers. Demographics also influenced the level of reporting of birth defects and other conditions. More research could help inform the role of language, age, and race/ethnicity on reporting of family history. 

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