MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS

Acta Aquatica: Aquatic Sciences Journal

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Field Value
 
Title MEDICAL GENETIC COUNSELING OF WOMEN WITH CONGENITAL HEART DISEASES OF FETUS
 
Creator Sharhorodska, Yevheniya; Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine
Helner, Nadiya; Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine
Prokopchuk, Natalia; Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine
Makukh, Halyna; Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine
 
Subject prenatal diagnosis; medical genetic counseling; congenital heart defects
 
Description 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.
 
Publisher Company "Scientific Route"
 
Contributor
 
Date 2019-02-04
 
Type info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion


 
Format application/pdf
 
Identifier http://eu-jr.eu/health/article/view/845
10.21303/2504-5679.2019.00845
 
Source EUREKA: Health Sciences; No 1 (2019); 39-47
EUREKA: Health Sciences; No 1 (2019); 39-47
2504-5679
2504-5660
 
Language eng
 
Relation http://eu-jr.eu/health/article/view/845/842
 
Rights Copyright (c) 2019 Yevheniya Sharhorodska, Nadiya Helner, Natalia Prokopchuk, Halyna Makukh
http://creativecommons.org/licenses/by/4.0
 

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