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Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates

A Dawodu1, L Al-Gazali, E Varady

  • 1Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. adekunle.dawodu@cchmc.org

Community Genetics
|March 16, 2005
PubMed

Insights

Congenital anomalies (CA) are the leading cause of neonatal deaths in the UAE. Parental consanguinity significantly increases the risk of genetic disorders causing these lethal malformations, highlighting the need for genetic screening.

Area of Science:

  • Medical Genetics
  • Neonatalogy
  • Public Health

Background:

  • Congenital anomalies (CA) are a major cause of neonatal mortality globally.
  • The United Arab Emirates (UAE) has a high rate of consanguineous marriages, potentially increasing the incidence of genetic disorders.
  • Understanding the contribution of genetic disorders to CA is crucial for developing targeted interventions.

Purpose of the Study:

  • To investigate the role of genetic disorders in congenital anomalies leading to neonatal deaths in the Al Ain Medical District (AMD), UAE.
  • To assess the impact of parental consanguinity on the occurrence of these anomalies.
  • To inform strategies for reducing neonatal mortality in the region.

Main Methods:

  • Retrospective review of neonatal death records (1992-2000) from perinatal units in AMD.
  • Data collection included pregnancy details, family history (parental consanguinity), genetic evaluations, and neonatal outcomes.
  • Causes of death were determined through clinical, laboratory, and imaging assessments.

Main Results:

  • Congenital anomalies (CA) accounted for 42% of neonatal deaths, making them the leading cause.
  • Definite genetic disorders were identified in 44% of CA cases, with single gene defects being most common (75%).
  • Parental consanguinity was linked to a two-fold increased risk of non-chromosomal multisystem malformations.

Conclusions:

  • Lethal malformations, often driven by genetic disorders, are the primary cause of neonatal mortality in the studied region.
  • Parental consanguinity is associated with a higher risk of autosomal recessive disorders.
  • Genetic screening and counseling are essential for reducing neonatal mortality rates in the UAE.
Abstract

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