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Major birth defects among infants with Down's syndrome in Alexandria, Egypt (1995-2000)
Mohamed Mohamed Mokhtar1, Moataz Abdel-Fattah
1Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt.
Insights
Parental consanguinity, maternal fever, and antibiotic use are significant risk factors for congenital anomalies in infants with Down
Area of Science:
- Medical Genetics
- Pediatrics
- Obstetrics
Background:
- Down's syndrome (DS), also known as Trisomy 21, is frequently associated with congenital anomalies.
- Understanding risk factors for these anomalies is crucial for early intervention and management.
Purpose of the Study:
- To investigate potential risk factors for congenital anomalies in infants diagnosed with Down's syndrome.
- To identify specific environmental and genetic interactions contributing to birth defects in DS cases.
Main Methods:
- A case-control study design was employed.
- Data were collected from 514 infants with confirmed Down's syndrome between July 1995 and June 2000.
- Risk factors were analyzed using statistical methods.
Main Results:
- Parental consanguinity and grand-maternal consanguinity were identified as significant risk factors.
- Maternal use of antibiotics, oral contraceptive pills, history of diabetes mellitus, and maternal fever were also associated with increased anomaly risk.
- Evidence suggests interaction between Trisomy 21 genes and consanguinity/environmental factors.
Conclusions:
- Consanguinity and certain maternal health factors increase the risk of congenital anomalies in Down's syndrome infants.
- Environmental and genetic interactions play a role in the development of additional birth defects in DS.
- Further research into these interactions can inform preventative strategies.
Abstract:
A case-control study of 514 infants with confirmed Down's syndrome (DS) was carried out during the period 1 July 1995-30 June 2000 to investigate the risk factors for the occurrence of congenital anomalies among DS cases. Our results showed that the significant risk factors for developing any type of congenital anomalies among DS were: parental consanguinity, grand-maternal consanguinity, use of antibiotics, use of oral contraceptive pills, diabetes mellitus, and maternal fever. The interaction between trisomy 21 genes and consanguinity and/or environmental factors can increase the risk of several additional birth defects.