title: [Frequency of prevalence of Turner syndrome in fetuses of patients referred to genetic amniocentesis in 2007-2011].
abstract: Turner syndrome is a genetic diseases caused by an aberration of sex chromosomes. It is conditioned by structural and/or quantitative aberration of one of the two X chromosomes, with frequent presence of mosaicism in cells. Since there are a few types of the syndrome, its diagnosis is often difficult and, as a consequence, a lot of people live without knowing of their disease. It is only during puberty that symptoms occur, or when full maturity begins it possible to diagnose the disease and start treatment. Genetic amniocentesis is a method thanks to which a material for cytogenetic test is obtained. The method involves puncturing amniotic sac and aspiration of fluid under the control of ultrasound for diagnostic purposes. Microscopic analysis of the chromosomes makes it possible to recognize aberration of one chromosome X which indicates Tuner syndrome phenotype. The objective of the study was the analysis of the frequency of prevalence of Turner syndrome in the patients' fetuses referred for genetic amniocentesis in 2007-2011. The most frequent cause of Turner syndrome in girls is missing one of two chromosomes X. the analysis shows that in 1815 tests Turner syndrome was confirmed in 46 cases which constitutes 2.5%. It is mostly young women, aged 25-29 that are at risk of having a child with this aberration. Indications which were later confirmed by the cases of fetuses with this syndrome included fetal hydrops, cystic hygroma and abnormalities in ultrasound image. In case of indications such as genetic defects in the family, incorrect result of triple test are not confirmed by Turner syndrome.
authors: Centralne Laboratorium, Ginekologiczno-Połozniczy Szpital Kliniczny, Uniwersytet Medyczny im Karola Marcinkowskiego, ul. Polna 33, 60-535 Poznań. mchuch@gpsk.am.poznan.pl
authors: Marek
authors: M
authors: Chuchracki
authors: Aleksandra
authors: A
authors: Szczepaniak
authors: Anna
authors: A
authors: Sedziak
authors: Katarzyna
authors: K
authors: Ziółkowska
authors: Tomasz
authors: T
authors: Opala
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D011247:Pregnancy; D015995:Prevalence; D012017:Referral and Consultation / Q000706:statistics & numerical data; D014424:Turner Syndrome / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult