Indications for referral of Turner's syndrome cases diagnosed prenatally

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

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8
  • Basım Tarihi: 2005
  • Dergi Adı: Balkan Journal of Medical Genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.27-30
  • Anahtar Kelimeler: Cytogenetic, Indication, Prenatal diagnosis, Turner's syndrome
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.