Abstract
Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women.. Materials and methods. The analysis of the results of medical genetic counseling of pregnant women with fetal heart diseases was carried out. The effectiveness of using different methods of prenatal diagnosis in 67 pregnant women is estimated. The data of somatic, genealogical and reproductive anamnesis, biochemical markers of chromosomal pathology of the 1st and 2nd trimester of pregnancy, and the spectrum of the detected fetal heart disease were studied. Results of the research. It was found that 46 (68.7 %) women had somatic diseases: pathology of the cardiovascular system (11.9 %); endocrine system - at 8 (11,9 %); respiratory disease – 3 (4.5 %) and urinary system – 2 (3.0 %). 13 (19.4 %) out of 67 women had acute respiratory viral infections in the first trimester of pregnancy. In 4 (6 %) cases - bad habits. The first time pregnant were 31 (46.3 %) women, 21 (31.3 %) – the second time, 10 (14.9 %) in the third, and 5 (7.5 %) in the fourth or more times. In history, 58 (86.6 %) women did not have reproductive function disorders, 8 (11.9 %) had unauthorized miscarriages and frozen pregnancy. The burden of gynecological anamnesis was observed in 12 (17.9 %) women, and hereditary - in 6 (9.0 %) women. In the structure of congenital defects of the heart, false anatomical anomalies were found more often: hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot - 9 (13.3 %). Biochemical markers of chromosomal pathology in the first trimester in 11 (16.4 %) women recorded indicators that are characteristic of the risk of chromosomal pathology, and in the second trimester – in 9 (13.4 %). Two pregnant women used a NIPT (non-invasive prenatal test) test that did not detect chromosomal abnormalities in the fetus. In 8 cases, invasive prenatal diagnosis of the fetus was recommended, which was carried out by three women, and five refused. Conclusions. The peculiarities of somatic (in 46–68.7 % of women), reproductive (in 8-11.9 % of women) gynecological anamnesis (in 12–17.9 % of women), which can be the risk factors of congenital fetal heart disease, are revealed. In the structure of congenital defects of the heart of the fetus more often revealed hypoplasia of the left heart organs – 14 (20.9 %), tetralogy of Fallot – 9 (13.3 %). In 11 (16.4 %) women recorded indicators of biochemical markers, characteristic for the risk of chromosomal pathology, in the first trimester, and – in 9 (13.4 %) pregnant women – in the second trimester. Comparative data on prenatal diagnosis of congenital heart defects in the fetus of chromosomal, monogenic and multifactorial etiology are given. On the basis of the obtained results an algorithm of medical-genetic counseling of this contingent of patients was offered.
Highlights
The incidence of congenital heart defect (CHD) in the world ranges from 10 to 13 cases per 1,000 children born alive [1, 2]
We evaluated the effectiveness of different methods of prenatal diagnosis in 67 pregnant women with CHD fetus, which had ultrasound fetal diagnosis of CHD that was made prenatally, studied data of physical, family and reproductive history, biochemical markers and second trimester of pregnancy, and spectrum of the detected heart disease in the fetus
While medical genetic counseling we found some peculiarities of physical, reproductive gynecological history, which may be the likely risk factors for congenital heart disease of the fetus
Summary
The incidence of congenital heart defect (CHD) in the world ranges from 10 to 13 cases per 1,000 children born alive [1, 2]. In Ukraine, the average CHD frequency ranges from 8–9 to 11–13 cases per 1,000 live births [3, 4]. The basis for early detection of any congenital malformations is well organized screening of pregnant women. Fetal echocardiography is a routine method of study for all pregnant women [5, 6]. In Ukraine, there is the lack of high-tech equipment and qualified doctors in fetal cardiology; they require constant improvement and there is insufficient coverage of pregnant women with ultrasound screening [10, 11]
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