REVIEW – December 2007

Prevention of some genetic disorders and congenital malformations: maternal screening programmes for risk group detection

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Abstract

Prenatal screening enables to select, without the use of invasive diagnostic methods, from among all pregnant women those who have an increased risk of having a child with chromosomal disorder (Down’s syndrome, etc.) or some types of congenital malformations. Women belonging to the group with increased risk are further investigated more thoroughly: ultrasound examinations,  performed by a qualified specialist, or fetal chromosomal analysis.
The article provides an overview of possibilities of prenatal screening in both I and II trimesters with a focus on the markers used for different prenatal screening methods and on the efficiency of different screening strategies in general.