INDICATIONS FOR REFERRAL OF TURNERíS SYNDROME CASES DIAGNOSED PRENATALLY
Yilmaz B1,*, Ozkinay F2, Ercal D3, Sagol S4, Kanit H5, Kirayoglu H1, Ozkinay C2
*Corresponding Author: Assistant Professor Dr. Berna Yilmaz, Gene-Test Genetic Diagnostic Centre, Talatpasa Bulv. No: 33/6, 35520 Alsancak-Izmir, Turkey; Tel.: +90-232-463-45-45; Fax: +90-232-464-65-33; E-mail: bernaylmz@hotmail.com
page: 27

Abstract

We performed a retrospective study of 17 Turnerís syndrome TS cases who were diagnosed prenatally in our Genetic Diagnostic Centre, Alsancak-Izmir, Turkey, during the period 2000-2005. The indications for prenatal diagnosis, ultrasonographic findings and demographic data of the mothers were evaluated from patient records. The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17). Other indications were advanced maternal age, abnormal triple test [alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (Estriol)] levels in the diagnosis of Downís syndrome and fetal growth retardation. A 45,X non mosaic karyotype (14/17) was detected in 14 of these cases, while three showed mosaicism with the following karyotypes: 45,X0/ 46,XX, 45,X0/46,XY and 45,X0/46,X,del (X)(q21;qter, respectively.
Key words: Turnerís syndrome (TS); Indication; Cytogenetic; Prenatal diagnosis




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