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SM ISO690:2012 SPRINCEAN, Mariana, HALABUDENCO, Elena, STRĂTILĂ, Radu, SECRIERU, Viorica, NOUR, Veronica, BARBOVA, Natalia, DOBROVOLSKAYA-KATRINICH, A., CAPROŞ, Cristina. The role of medical -genetic counseling and of prenatal diagnosis in the process of identification of congenital malformations. In: Archives of the Balkan Medical Union Supliment, 2013, nr. S3(48), p. 58. ISSN 0041-6940. |
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Archives of the Balkan Medical Union Supliment | ||||||
Numărul S3(48) / 2013 / ISSN 0041-6940 | ||||||
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Pag. 58-58 | ||||||
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Background: The role of genetic counseling in the prevention system of genetic diseases is emphasized in the study. The main prophylaxis measures and prenatal diagnosis methods applied to pregnant women of risk group are identified by authors. Materials and methods: Retro-prospective study of investigation included 8937 pregnant women who have asked for medico-genetic counseling in CRHMG, in 2008-2012. Group I: 4473 pregnant women from medium and high risk group, group II: 4464 pregnant women from low risk group. Results: Those two groups were comparable in age, gestational period, degree of genetic risk. It was found that the age of women in genetic risk group was from 17 years to 44 years (average age 26,1 ± 5,3 years). Prenatal diagnosis contributed to the identification of severe fetal pathologies to 478 pregnant women, which constituted 5,4% of total number of female cases investigated. Amniocentesis with study of the fetal karyotype allowed the identification of numerical and structural chromosomal abnormalities to 67 patients (3,0%). First place in the structure of the serious fetal pathologies is occupied by abnormalities of the central nervous system (1,4%), second place - abnormalities of the cardio-vascular system (0,87%), followed by osteomuscular system anomalies (0,51%), renal system (0,64%) and digestive system (0,6%). Conclusion: Genetic counseling and prenatal diagnosis methods (fetal ultrasound, biochemical screening, karyotyping) helps to reduce the frequency of chromosomal abnormalities and congenital malformations. |
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Cuvinte-cheie medical-genetic, prenatal diagnosis |
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