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618.2-079.7-092.18:575 (1) |
Științe medicale. Medicină (11142) |
Genetică generală. Citogenetică generală (427) |
SM ISO690:2012 SPRINCEAN, Mariana, BARBOVA, Natalia, UŞURELU, Natalia, HALABUDENCO, Elena, EŢCO, Ludmila, SECRIERU, Viorica, NOUR, Veronica, SACARĂ, Victoria, STRĂTILĂ, Mihail. Rolul consultului medico-genetic în profilaxia bolilor genetice prin diagnostic citogenetic prenatal.. In: Buletin de Perinatologie, 2016, nr. 1(69), pp. 31-38. ISSN 1810-5289. |
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Buletin de Perinatologie | |||||||
Numărul 1(69) / 2016 / ISSN 1810-5289 | |||||||
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CZU: 618.2-079.7-092.18:575 | |||||||
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The main prophylaxis measures and prenatal cytogenetic diagnosis methods applied to pregnant women of risk group are identifi ed by authors. The scope of the work is to highlight the role of genetic counselling and PCD for identifi cation of chromosomal abnormalities in foetuses at early stages of intrauterine development. Materials and methods: The process of investigation included the prospective medical – genetic counselling with the purpose of identifi cation of the target group consisting in 13532 pregnant women of the risk-group, being prescribed to be examined in CRHMG, in the period 2005-2015; a) group I: 5662 (41,8 ± 0,4%) - pregnant women from medium and high risk group; b) group II: 7870 (58,2 ± 0,4%) - pregnant women from low risk group. Results: In the structure of fetal chromosomal abnormalities, diagnosed in fetus until 22 weeks of gestation, the most common is Down syndrome - 88 cases (1,6±0,18%), Edwards syndrome - 24 cases (0,4±0,09%) and Patau syndrome - 9 cases (0,2±0,06%), Turner syndrome - 8 cases (0,16±0,05%), Klinefelter syndrome - 11 cases (0,2±0,07%), triple X syndrome - 6 fetuses (0,1±0,05%), triploidy - 6 fetuses (0,1±0,05%) and 37 fetuses (0,6±0,1%) with other structural chromosomal syndromes. The research and evaluation of results of cyt ogenetic prenatal diagnosis – karyotyping, allowed prenatal diagnosis of chromosomal abnormalities in 189 cases, which was 3,3±0,3% of total amount of pregnant women who carried out DPC in concerned period.Conclusions: The medical-genetic counseling and the method of CPD contributes to reducing the frequency of chromosomal abnormalities in newborns. |
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Cuvinte-cheie genetic counseling, prophylaxis, genetic diseases, prenatal cytogenetic diagnosis |
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The scope of the work is to highlight the role of genetic counselling and PCD for identifi cation of chromosomal abnormalities in foetuses at early stages of intrauterine development. Materials and methods: The process of investigation included the prospective medical – genetic counselling with the purpose of identifi cation of the target group consisting in 13532 pregnant women of the risk-group, being prescribed to be examined in CRHMG, in the period 2005-2015; a) group I: 5662 (41,8 ± 0,4%) - pregnant women from medium and high risk group; b) group II: 7870 (58,2 ± 0,4%) - pregnant women from low risk group. Results: In the structure of fetal chromosomal abnormalities, diagnosed in fetus until 22 weeks of gestation, the most common is Down syndrome - 88 cases (1,6±0,18%), Edwards syndrome - 24 cases (0,4±0,09%) and Patau syndrome - 9 cases (0,2±0,06%), Turner syndrome - 8 cases (0,16±0,05%), Klinefelter syndrome - 11 cases (0,2±0,07%), triple X syndrome - 6 fetuses (0,1±0,05%), triploidy - 6 fetuses (0,1±0,05%) and 37 fetuses (0,6±0,1%) with other structural chromosomal syndromes. The research and evaluation of results of cyt ogenetic prenatal diagnosis – karyotyping, allowed prenatal diagnosis of chromosomal abnormalities in 189 cases, which was 3,3±0,3% of total amount of pregnant women who carried out DPC in concerned period.Conclusions: The medical-genetic counseling and the method of CPD contributes to reducing the frequency of chromosomal abnormalities in newborns. </description> <description xml:lang='ru' descriptionType='Abstract'>В исследовании показана роль медико-генетического консультирования в системе предупреждения генетических заболеваний. Определены основные меры профилактики и методы пренатальной диагностики у беременных из группы риска. Материал и методы: В ретро- и проспективное исследование было включено 13532 беременных женщин из „группы риска”, направленных для медико-генетического консультирования в ЦРЗМГ в 2005-2015 годах. Результаты: Амниоцентез с исследованием кариотипа плода определил численные и структурные хромосомные аномалии плодов у 189-и пациенток (3,3±0,3%). Из них: синдром Дауна (n=88, 1,6±0,18%), синдром Патау (n=49, 0,2±0,06%), синдром Эдвардса (n=24, 0,4±0,09%), синдром Тернера (n=8, 0,16±0,05%), синдром Клайнфельтера (n=11, 0,2±0,07%), другие хромосомные аномалии (n=37, 0,6±0,1%). </description> </descriptions> <formats> <format>application/pdf</format> </formats> </resource>