Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. This paper reports data since the programme started in January 1995 up to December 2011 on the incidence of screened disorders and the molecular basis of positive screened cases. Screening used a combination of tandem mass spectrometry, molecular technologies and biochemical analysis.

The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities.

Objectives: Evaluation of Fluorescent in situ hybridization (FISH) as a tool for rapid aneuploidy screening (RAS) of high risk pregnancies, before its approval in the national antenatal screening and genetic diagnosis program in Egypt.

Methods: The cytogenetic data of prenatal specimens, and results of FISH of 100 patients performed between, January 2009 and December 2009, at the Medical Genetics Center (MGC) laboratory were retrieved and reviewed. AneuVysion Assay kit was used for detection of 13, 21, X, Y, 18 aneuploidies.