Abstract

Background: Syndrome (DS) is the most frequent chromosomal abnormality in live births with an incidence of 1 to 1.7 per 1,000 births and a variable physical expression. syndrome screening has been an integral part of routine prenatal care in recent decades. Currently, there is no established DS screening program in the Kingdom of Saudi Arabia. Objective: The total number of DS pregnancies is increasing, probably due mainly to the increasing proportion of older mothers. Live birth with DS increased also so, there is an expected increase in long term survivors. There is a need for a well structured system for prenatal diagnosis and follow up program and an extra health care resource. Design: A systematic literature search for various prenatal screening tests for DS were explored regarding the time of screening during pregnancy, detection rate, false positive rate, advantages and disadvantages. Various search engines like Pub med, Medline, Index Medicus were used to review the published literature using the key words Down syndrome, antenatal screening, and “Chromosomal Results: Different screening strategies for DS are applied worldwide. In the United Kingdom, the combined test, the integrated test or the serum integrated test is offered for women who present in the first trimester, and the quadruple test for those who present in the second trimester. In the United States, Canada, and Australia the combined test is recommended for the first trimester and the quadruple test for the second trimester. Conclusion: The Quadruple test should be offered to all pregnant women in the second trimester, in addition all women should be offered a second –trimester ultrasound scan to identify major and minor fetal abnormalities. Extensive research is needed to establish accurate incidence of DS in the Kingdom of Saudi Arabia and its relation to maternal age and parity. Review Article

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