Indications for referral of Turner's syndrome cases diagnosed prenatally

Yilmaz B., ÖZKINAY F. F., Ercal D., SAĞOL S., Kanit H., Kirayoglu H., ...More

Balkan Journal of Medical Genetics, vol.8, pp.27-30, 2005 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 8
  • Publication Date: 2005
  • Journal Name: Balkan Journal of Medical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.27-30
  • Keywords: Cytogenetic, Indication, Prenatal diagnosis, Turner's syndrome
  • Dokuz Eylül University Affiliated: Yes

Abstract

We performed a retrospective study of 17 Turner's 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, ultra-sonographic 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 Down's 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,XO/46,XX, 45,XO/46,XY and 45,XO/46,X,del (X)(q21;qter), respectively.