Rolul consultului medico-genetic în profilaxia bolilor genetice prin diagnostic citogenetic prenatal.
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618.2-079.7-092.18:575 (1)
Științe medicale. Medicină (6270)
Genetică generală. Citogenetică generală (217)
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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

Rolul consultului medico-genetic în profilaxia bolilor genetice prin diagnostic citogenetic prenatal.

CZU: 618.2-079.7-092.18:575
Pag. 31-38

Sprincean Mariana12, Barbova Natalia21, Uşurelu Natalia1, Halabudenco Elena1, Eţco Ludmila12, Secrieru Viorica1, Nour Veronica1, Sacară Victoria1, Strătilă Mihail1
 
1 IMSP Institutul Mamei şi Copiluluii,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
 
Proiect:
INTAS Optimisation of Tartaric acid and enonotanines extraction from winery wastes and their utilization for the synthesis of new compounds with biological activity and antioxidant properties
 
Disponibil în IBN: 22 decembrie 2016


Rezumat

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.

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%).

Cuvinte-cheie
genetic counseling, prophylaxis,

prenatal cytogenetic diagnosis, genetic diseases