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  • Title: Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates.
    Author: Dawodu A, Al-Gazali L, Varady E, Varghese M, Nath K, Rajan V.
    Journal: Community Genet; 2005; 8(1):31-4. PubMed ID: 15767752.
    Abstract:
    OBJECTIVES: We examined the contribution of genetic disorders to congenital anomalies (CA) causing neonatal deaths in the Al Ain Medical District (AMD) in the United Arab Emirates (UAE) because of the high consanguineous marriage rate in the community. METHODS: Charts of all neonatal deaths in the three perinatal units, which accounted for 99% of all births in AMD (1992-2000), were studied. Data regarding pregnancy, a family history including the level of parental consanguinity, the results of genetic evaluations and neonatal outcomes were recorded as part of an ongoing malformation surveillance system. Causes of death were based on clinical, laboratory and imaging findings. RESULTS: Of the 508 neonates who died, 212 (42%) had CA, which were the leading cause of death. Forty-four percent of the CA were due to definite genetic disorders and 75% of these were single gene defects. Multisystem malformations were the commonest congenital malformations. Parental consanguinity was associated with a 2-fold increased risk of non-chromosomal multisystem malformations. CONCLUSIONS: Lethal malformations were the leading cause of neonatal deaths, and parental consanguinity was associated with an increased risk of autosomal recessive disorders. The results underscore the importance of genetic screening and counseling in strategies for further significant reductions in the neonatal mortality rate in the UAE.
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