Vrozené vývojové vady postihují dle údajů WHO přibližně 3 % novorozenců a jsou každoročně příčinou úmrtí přibližně 270 000 novorozenců na světě. Dle aktuálního doporučení ČGPS pro péči o fyziologické těhotenství by každé těhotné ženě měl být v 1. trimestru nabídnut screening nejčastějších morfologických a chromozomálních vrozených vývojových vad plodu a poskytnuta informace o metodách screeningu, poskytovatelích i formě úhrady. Preferován by měl být kombinovaný screening v 1. trimestru těhotenství, zatím však není hrazen z prostředků veřejného zdravotního pojištění. Cílem článku je poskytnout lékařům přehlednou informaci o současných možnostech screeningu vrozených vývojových vad plodu, která jim může usnadnit vysvětlení a doporučení screeningových testů těhotné ženě., 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., and Veronika Frisová
To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 1850 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 2125 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude nondeveloping pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy., Shahnoza Kamalidinova, and Literatura