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Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling
J al Talabani1, A I Shubbar, K E Mustafa
1Paediatric Department, Corniche Hospital, Abu Dhabi, U.A.E.
Insights
Major congenital malformations affect 16.6/1000 infants in Abu Dhabi. Many cases have high recurrence risks, highlighting the need for genetic counseling and potential antenatal diagnosis for future pregnancies.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Congenital malformations represent a significant global health concern.
- Understanding the prevalence and recurrence risks is crucial for effective genetic counseling and public health strategies.
Purpose of the Study:
- To determine the prevalence of major congenital malformations in newborns in Abu Dhabi.
- To assess the recurrence risks associated with these malformations.
- To evaluate the potential for antenatal diagnosis and the role of genetic counseling.
Main Methods:
- A prospective survey of 24,233 consecutive births at Corniche Hospital, Abu Dhabi, UAE, between January 1992 and January 1995.
- Identification and classification of major congenital malformations.
- Estimation of recurrence risks for identified malformations.
Main Results:
- A total of 401 infants (16.6/1000) presented with major congenital malformations.
- 67% of malformations had a recurrence risk >1%, and 24% had a recurrence risk >10%.
- Antenatal diagnosis was feasible for 60% of mothers, with 59% having a recurrence risk >1% where diagnosis was possible.
Conclusions:
- The study underscores the significant burden of congenital malformations in Abu Dhabi.
- High recurrence risks in a substantial proportion of cases emphasize the need for genetic counseling, especially for mothers under 36.
- The feasibility of antenatal diagnosis in many cases warrants further integration into prenatal care strategies.
Abstract:
Between January 1992 and January 1995 a total of 24,233 babies born consecutively in Corniche Hospital which is the only maternity hospital in Abu Dhabi, the capital of UAE, were surveyed for the presence of major congenital malformations. A total of 401 infants (16.6/1000) had a major defect. Of these malformations, 267 (67%) were associated with an estimated recurrence risk greater than 1%, and 95 (24%) carried an estimated recurrence risk greater than 10%. This included a total of 91 cases of single gene disorders and 4 cases of cleft lip and palate where a mother and another sibling were affected putting their estimated recurrence risk in the high category group. When antenatal diagnosis is feasible, this should be considered in 60% of mothers (a total of 242). In 59% (a total of 237) the estimated recurrence risk was > 1% and the antenatal diagnosis of the disorder was possible. The importance of Genetic Counselling is revealed in our study since more than three quarters of mothers were under 36 years old, and may well plan future pregnancies.