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Anorectal malformations and Down syndrome
J Zlotogora1, K Abu-Dalu, O Lernau
1Department of Human Genetics, Hadassah Hospital Ein Karem, Hebrew University Hadassah Medical School, Jerusalem, Israel.
Insights
Infants with Down syndrome (DS) have a significantly higher risk of imperforate anus. This study found a 2.2% incidence of imperforate anus in infants with DS, highlighting a critical association for early diagnosis and intervention.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Epidemiology
Background:
- Down syndrome (DS) is a genetic disorder associated with various congenital anomalies.
- Imperforate anus is a congenital malformation of the anorectal region.
- Understanding the co-occurrence of these conditions is crucial for clinical management.
Purpose of the Study:
- To determine the incidence of imperforate anus in infants with Down syndrome.
- To investigate the association between Down syndrome and imperforate anus in a specific population.
Main Methods:
- Retrospective analysis of liveborn infant data from 1980 to 1986 in Jerusalem.
- Inclusion criteria: diagnosis of Down syndrome or imperforate anus.
- Calculation of incidence rates and co-occurrence.
Main Results:
- A total of 64,870 liveborn infants were analyzed.
- 89 infants were diagnosed with Down syndrome; 42 with imperforate anus.
- Two infants presented with both Down syndrome and imperforate anus, yielding a 2.2% incidence of imperforate anus among infants with Down syndrome.
Conclusions:
- There is a notably high incidence of imperforate anus in infants with Down syndrome.
- This finding underscores the importance of screening for anorectal malformations in newborns diagnosed with Down syndrome.
- Early detection and surgical intervention can improve outcomes for affected children.
Abstract:
During 1980 to 1986, 89 children with Down syndrome and 42 with imperforate anus were diagnosed among 64,870 liveborn infants in the Jewish population of Jerusalem. Two of the children had both Down syndrome and imperforate anus. This indicates a high incidence of imperforate anus among children with Down syndrome (2.2%).