Abstract
Maternal serum screening is prenatal blood genetic test which in combination with highly specialized ultrasound scan of fetal morphology is a non invasive approach for evaluation of congenital anomalies. The aim of the present announcement is to report our first results of the started in 2005 maternal serum screening for Down syndrome, neural tube defects and ventral wall defects as an approach for genetic prophylaxis. Maternal serum screening is a program for prenatal evaluation of the risk for the most common chromosome disorders in all pregnant women. It is performed in the Medical genetic laboratory in `St. Marina` University hospital - Varna and for now is the only unit outside the capital, where the screening is performed for the region of North-Eastern Bulgaria. In 15 months (January 2005 - march 2006) 324 women are evaluated (251 of them from Varna and 73 - from the region). 220 of them are under 35 years of age and 104 - over this age. The biochemical test is dual - for hAFP and Free hCG? and software calculates risk, based on gestational age, pregnant`s weight and her age. High risk (higher than 1:250) was evaluated in 11 women (5%) under 35 years of age and in 24 (23.1%) - over 35 years of age. In 63.6% in the first group and 75.0% in the second group amniocentesis and cytogenetic investigation were performed and normal results were found. Scripta Scientifica Medica 2007;39(1):41-44
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