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Congenital malformations associated with anencephaly in liveborn and stillborn infants
Insights
Anencephaly, a neural tube defect, often co-occurs with other congenital malformations. These additional defects may not solely cause in utero demise, suggesting varied causes for neural tube defects.
Area of Science:
- Medical Genetics
- Developmental Biology
- Public Health
Background:
- Anencephaly is a severe neural tube defect with significant mortality.
- Understanding associated congenital malformations is crucial for prognosis and etiology.
Purpose of the Study:
- To investigate the frequency and types of additional congenital malformations in infants with anencephaly.
- To compare these frequencies with the general population and analyze differences between liveborn and stillborn anencephalic infants.
- To explore the contribution of additional malformations to in utero mortality.
Main Methods:
- Utilized population-based data from the British Columbia Health Surveillance Registry.
- Identified 456 infants with anencephaly (181 liveborn, 275 stillborn).
- Reviewed records for additional congenital malformations and compared frequencies with general population data.
Main Results:
- 12.7% of infants with anencephaly had additional congenital malformations (14.4% liveborn, 11.6% stillborn).
- Specific malformations like talipes, cleft lip/palate, and omphalocele were analyzed.
- Similar types of additional malformations were observed in liveborn and stillborn anencephalic infants.
Conclusions:
- Additional congenital malformations are common in anencephaly.
- The presence of these malformations alone may not be the sole determinant of in utero death.
- Findings support the concept of etiological heterogeneity in neural tube defects.
Abstract:
Records from the population-based British Columbia Health Surveillance Registry were examined, and a total of 456 infants with anencephaly (181 liveborns, 275 stillborns) were identified. Registry records list up to four congenital malformations per individual, and the records of the study cohort were reviewed for the presence of additional malformations. A total of 12.7% of infants (14.4% liveborns, 11.6% stillborns) had congenital malformations in addition to anencephaly. The frequencies of specific congenital malformations (e.g., talipes, cleft lip and/or palate, omphalocele) in infants with anencephaly were compared with the frequencies of these malformations in the general population of liveborns. In addition, the types of additional congenital malformations in liveborn anencephalics compared to stillborns were looked at. The similarity suggests that it is not just the presence of these additional congenital malformations that leads to death in utero. The data provide further evidence for etiological heterogeneity in neural tube defects.