Abstract
ObjectivesEvaluation 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.MethodsThe 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.ResultsMaternal age varied from 21 to 44 years (mean was 35.6 year). Ninety percent of pregnancies had normal chromosomes and 10% of the cases had numerical chromosomal abnormalities. Trisomy 21 was the most frequent chromosomal disorder across all indications (5%), followed by Turner syndrome (2%), trisomy 18 (2%), and trisomy 13 (1%). When comparing the FISH data with karyotype results for chromosomes 13, 18, 21, X, and Y in the 83 individual tested, no false positive or negative results were detected by the FISH assay. The result obtained by FISH and the banding cytogenetic were in complete accordance.ConclusionThis study supports the integration of amniotic fluid (AF) FISH as a RAS test, in to routine antenatal practice for identification of chromosome aneuploidies. There are trends towards delayed childbearing and most cases of Down Syndrome (DS) are currently detected post-nataly in the Egyptian population. Consequently, the live birth prevalence of DS has increased, which might lead to a serious negative public health effects.
Highlights
Over the last 30 years, U.S Agency for International Development (USAID) and Egypt’s primary focus was on assisting the Ministry of Health and Population (MOHP) to increase the availability of family planning (FP) and public health services
Chromosome anomalies identified by the Fluorescent in situ hybridization (FISH) technique were 8 cases (8%) of autosomal aneuploidies and two cases (2%) of gonosomal aneuploidies
It should be considered that Medical Genetics Center (MGC) is a private laboratory, and most of our patients come from high social class families, when compared to the previous studies performed at governmental hospitals where free or minimum charge prenatal diagnosis is provided for high risk group only
Summary
Over the last 30 years, U.S Agency for International Development (USAID) and Egypt’s primary focus was on assisting the Ministry of Health and Population (MOHP) to increase the availability of family planning (FP) and public health services. The Egyptian FP and reproductive health (RH) program has achieved considerable success over the last three decades, preventing millions of infants and child deaths and high risk-births in Egypt and saving tens of thousands of mothers’ lives. Before the program began in the 1970 the country had hardly any FP services or products, maternal and infant. Impressive improvements in maternal health care are saving women’s life throughout Egypt. An essential package of Maternal and Child Health (MCH) services and standards of antenatal care (ANC) and postnatal care, delivery and obstetric care, neonatal care, and preventive child death was applied in targeted governorates reducing suffering and increasing lives saved. Egypt is on track to achieve Millennium development Goal (MDG) 5 of improving maternal health. The target aims at reducing maternal mortality rate (MMR) by three-quarters between 1990 and 2015 (Cobb et al 1993)
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