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SM ISO690:2012 TIHAI, Olga, HADJIU, Svetlana, BARBOVA, Natalia, EGOROV, Vladimir, REVENCO, Ninel, SPRINCEAN, Mariana. Postnatal diagnosis of congenital brain malformation in children.. In: Cercetarea în biomedicină și sănătate: calitate, excelență și performanță, Ed. 1, 20-22 octombrie 2021, Chişinău. Chișinău, Republica Moldova: 2021, p. 362. ISBN 978-9975-82-223-7 (PDF).. |
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Cercetarea în biomedicină și sănătate: calitate, excelență și performanță 2021 | ||||||
Conferința "Cercetarea în biomedicină și sănătate: calitate, excelență și performanță" 1, Chişinău, Moldova, 20-22 octombrie 2021 | ||||||
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Pag. 362-362 | ||||||
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Rezumat | ||||||
Background. Early diagnosis of congenital brain malformations (CBM) in children represents one of the modern medical priorities in particular in medical genetics and neuropaediatrics. In the Republic of Moldova CBM consists of about 25% among all CM in children , taking the fourth place after heart CM. Objective of the study. The purpose of this work is to highlight the role of congenital malformations monitoring in the Republic of Moldovain postnatal diagnosis in children with CBM. Material and Methods. During the investigation process, there was a medical genetic consultation which was done with the purpose of examining the group of 457 children within the pediatric age with the suspicion to CBM , they were referred to CSRGM examination in the Institute of Mother and Child during the period of 2018-2021. Among all of them , 64 children were diagnosed with CBM. Results. Clinical genetic examination and interpretation of paraclinical and imagistics results allowed to diagnose CBM in 64 cases. It was established that the most frequently diagnosed CBM was hydrocephalus in 15 cases (23,4%) followed by anencephaly — 3 cases (4,7%). Among the other CBM the most frequent were: isolated spina bifida — 6 cases (9,4%), microcephaly — 7 cases (10,9%), agenesis of the isolated corpus callosum- 8 cases, cerebral abnormalities — 7 cases (10,9%), ventricularmegaly — 11 cases (17,2%), segmental brain aplasia — 3 cases (4,7%). Through citogenetic methods were diagnosed diverse sindromes of numerous and structural cromozomes in 21 cases (32,8%). Conclusion. Medical genetic consultation represents an efficient method of postnatal diagnosis of congenital brain malformations in children of pediatric age. |
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Cuvinte-cheie Diagnosis, postnatal, congenital brain malformations, children, diagnostic, postnatal, malformații congenitale cerebrale, copii |
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