24 iul. TRISOMIE 16 IN MOZAIC DEPISTATA PRENATALA
G. Pop*, Mariela Militaru**, Tunde Kovacs*, F. Stamatian*
* Clinica Obstetrică Ginecologie I, UMF „Iuliu Hatieganu”, Cluj-Napoca
** Catedra de Genetică, UMF „Iuliu Hatieganu”, Cluj-Napoca
Rezumat
Studiul desfăşurat la Clinica Obstetrică-Ginecologie I din Cluj-Napoca, a avut ca şi obiectiv evaluarea aspectelor citogenetice ale anomaliilor cromosomiale depistate prenatal. Indicaþia efectuării analizei citogenetice prenatale a fost facută după efectuarea screening-ului ecografic şi biochimic în trimestrul II de sarcină. Efectuarea amniocentezei şi a diagnosticului citogenetic prenatal a fost efectuată pe baza consimþământului informat şi a fost precedată de consilerea genetică.
Au fost luate în studiu 265 cazuri, dintre care doar la 23 au fost depistate anomalii cromosomiale. Din cele 23 de cazuri, la şase s-au depstat mozaicisme cromosomiale, dintre care unul prezenta trisomie 16 în mozaic.
Abstract
This study was made in Obstetrics and Gynecology Clinic, Cluj-Napoca and its objective was to evaluate chromosomial abnormalities who were diagnosticated in the prenatal period. The indication towards prenatal cytogenetics anaysis was made after the screening (ultrasonography and biochemic) was done in the second quarter of pregnancy. The maniocentesis and prenatal cytogenetic diagnosis were accomplished after every pacient was informed and was preceded by genetic counseling.
265 cases were taken into the study and only 23 cases were found with chromosomial abnormalities. From those 23 cases, six had chromosomial mosaicisms and one had trisomy 16 with mosaicism.
