The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey

Ilgin-Ruhi H., KUTLAY N., Tukun A., Bokesoy I.

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.48, sa.1, ss.13-19, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 1
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1016/j.ejmg.2005.01.018
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.13-19
  • Anahtar Kelimeler: amniocentesis, ultrasonography, maternal serum screening, genetic counseling, ADVANCED MATERNAL AGE, HIGH-RISK POPULATION, DOWN-SYNDROME, FETUSES, TRISOMY-21, GESTATION, SONOGRAM, MARKERS
  • Ankara Üniversitesi Adresli: Evet

Özet

We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results ( abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after genetic counseling were evaluated. Among 340 women, 223 (65.6%) were in the high-risk group and 117 (34.4%) were in the low-risk group according to non-invasive test results. After counseling, 216 pregnant women (167 cases have high-risk, 49 cases who had low-risk) decided to have amniocentesis while 124 women (56 with high-risk and 68 with low-fisk) declined it. Fourteen abnormal karyotypes were detected. All pregnant women who had fetuses with chromosomal aberrations were in high-risk group. Our study shows that screening by non-invasive prenatal. diagnostic tool has an effect on families' choice of amniocentesis. The use of these test results during counseling decreased the number of amniocentesis in a ratio of 36.5%. (c) 2004 Elsevier SAS. All rights reserved.