Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling

Between January 1992 and January 1995 a total of 24233 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.