Methods of screening for the most common congenital structural and chromosomal fetal defects

Authors: Veronika Frisová
Authors‘ workplace: Profema – centrum fetální medicíny s. r. o., Praha ;  Porodnicko-gynekologická klinika LF UP a FN Olomouc
Published in: Prakt Gyn 2015; 19(2): 116-122
Category: Fetomaternal Medicine: Review Article


Congenital anomalies affect an estimated 3 % of infants and result in approximately 270 000 newborn’s death during the first 28 days of life every year in the world. Following current recommendation of the Czech Society of Gynaecology and Obstetrics for the care for low-risk pregnancies every pregnant woman should be offered the screening for the most common congenital fetal defects in the first trimester. She should be also informed about the methods of screening, including their cost and providers. First trimester screening by combined test should be recommended the most, although its cost cannot be covered by the health insurance yet.

The aim of this article is to provide an overview about the methods of screening for congenital fetal defects with comparison of their performance. This summary should help clinicians with counselling the pregnant woman about the screening options for congenital defects in the pregnancy.

Key words:
congenital fetal defects – chromosomal defects – morphological defects – genetic syndromes – methodes – screening


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine

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