Cytogenetic results of amniocentesis materials: Incidence of abnormal karyotypes in the Turkish collaborative study

Karaoguz M. Y., Bal F., Yakut T., Ercelen N. O., Ergun M. A., Gokcen A. B., ...Daha Fazla

GENETIC COUNSELING, cilt.17, sa.2, ss.219-230, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 2
  • Basım Tarihi: 2006
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.219-230
  • Anahtar Kelimeler: prenatal diagnosis, amniocentesis, indications, aberrations, aneuploidies, SERUM ALPHA-FETOPROTEIN, PRENATAL-DIAGNOSIS, GENETIC AMNIOCENTESIS, UNCONJUGATED ESTRIOL, CHROMOSOME ANALYSIS, DOWN-SYNDROME, NONDISJUNCTION, DISORDERS, CANADA
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study: The experience on prenatal chromosome diagnosis of four Turkish centers participating in a collaborative study on 6041 genetic amniocentesis performed during a 4-8 years period were reviewed. 5887 (97.5%) patients had strong clinical indications for prenatal chromosome studies and 154 (2.5%) were referred because of maternal anxiety and a bad history of previous gestations. The main indication groups were: advanced maternal age (3197 cases), positive serum screening (2011 cases), ultrasound-identified anomaly (492 cases), previous fetus/child with chromosomal aberrations (103 cases), a history of a previous abnormal and / or mentally handicapped child (70 cases) and a parental chromosome rearrangement (14 cases). The average maternal age was 33.9 years and average gestational age was 18 weeks. A total of 179 affected fetuses were detected in this collaborative study (3%) of which 133 were unbalanced (74.3%). Among the 124 (69%) numerical aberrations, 102 (82.3%) were autosomal aneuploidies, 20 (16.1%) were gonosomal aneuploidies and 2 (1.6%) were poliploidies. Among the 55 (31%) structural aberrations, balanced translocation was the most common (63.6%) and I 1 cases of inversion, four cases of unbalanced translocation, two cases of marker chromosome and three cases of other abnormalities were found. The overall culture success rate was 99.7%. Pregnancy termination that is permitted by legal authorities was accepted by 94.7% (126/133) with parents at unbalanced cytogenetic result announcement.