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Risks of selected congenital malformations among offspring of mixed race-ethnicity
Juan Yang1, Suzan L Carmichael, Zhanna Kaidarova
1March of Dimes Birth Defects Foundation, California Birth Defect Monitoring Program, Berkeley, CA 94710, USA. jya@cbdmp.org
Insights
Congenital malformation risks vary in mixed-race/ethnicity births. Some birth defects like anencephaly, polydactyly, and microtia showed increased risks, while others like hypospadias decreased in these groups.
Area of Science:
- Reproductive health
- Pediatric health
- Genetics and genomics
Background:
- Limited data exists on congenital malformations in offspring of mixed race-ethnicity.
- Understanding these patterns is crucial for public health and targeted interventions.
Purpose of the Study:
- To investigate the occurrence of specific congenital malformation phenotypes in offspring of parents with differing race-ethnicities.
Main Methods:
- Utilized data from the California Birth Defects Monitoring Program (2.6 million births, 1989-2000).
- Analyzed parental race-ethnicity (non-Hispanic white, Hispanic, black, Asian) from birth certificates and fetal death files.
- Examined phenotypes including spina bifida, anencephaly, cleft lip/palate, and others.
Main Results:
- 11.2% of births were to parents of mixed race-ethnicity.
- Increased risks (RR ≥ 1.7) for anencephaly, polydactyly, and microtia; decreased risks (RR ≤ 0.6) for hypospadias and hypertrophic pyloric stenosis in certain mixed groups.
- Phenotype risks varied based on maternal vs. paternal race-ethnicity for anencephaly, polydactyly, and microtia.
Conclusions:
- Specific congenital malformation phenotypes demonstrate varying risks associated with mixed racial-ethnic parental pairings.
- These findings highlight the importance of considering parental race-ethnicity in the study of birth defects.
Background:
Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity.
Methods:
Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.6 million live births and stillbirths occurred during 1989-2000. Information on parental race-ethnicity (non-Hispanic white, Hispanic, black, and Asian) was obtained from birth certificates and fetal death files. Malformation phenotypes studied were spina bifida, anencephaly, cleft lip, cleft palate, tetralogy of Fallot, d-transposition of great arteries, hypospadias, small intestinal atresia, preaxial polydactyly, microtia, and hypertrophic pyloric stenosis.
Results:
A total of 11.2% of births were to parents of mixed race-ethnicity. Compared to births of parents who were both white, moderately increased risks (risk ratio >/= 1.7) of anencephaly, polydactyly, and microtia, and decreased risks (risk ratio = 0.6) of hypospadias and hypertrophic pyloric stenosis were observed among births of several mixed race-ethnicity groups. For anencephaly, polydactyly, and microtia, but not other phenotypes, the risks were different depending on whether maternal versus paternal race-ethnicity was considered. Risks observed between births of a nonwhite parent and a white parent and births of parents who were both nonwhite were similar for most malformation phenotypes.
Conclusions:
Some malformation phenotypes appear to vary in their risk based on mixed racial-ethnic groupings.
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