Case presentation: the pregnancy of a Down syndrome mother

Yardımcı T., Türköver B., Sayar C., Toksoy G., Uludoğan M., Tandoğan B.

CHROMOSOME RESEARCH, vol.15, no.1, pp.126, 2007 (SCI-Expanded)

  • Publication Type: Article / Case Report
  • Volume: 15 Issue: 1
  • Publication Date: 2007
  • Doi Number: 10.1007/s10577-007-1911-x2
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.126
  • Istanbul University Affiliated: Yes


Case presentation The pregnancy of a Down syndrome mother despite evidence of normal sexual development, there remain few cases of documented fertility in Down syndrome women. Our case, 22 years old Down syndrome patient, referred to our outpatient policlinics (Zeynep Kamil Hospital Genetic Diagnosis Center) for genetic counselling for her ongoing pregnancy with her parents and husband. In her obstetric history she had a miscarriage of 16 gestational weeks in her previous pregnancy. Her ongoing pregnancy was 19 weeks and 2 days by ultrasonography. Peripheric blood karyotype analysis and fetal karyotyping following amniocentesis were programmed for her after a genetic counselling session. Her blood karyotype revealed out to be 47,XX,+21. Fetal karyotyping following amniocentesis revealed out no gross numeric and structural abnormality (46,XX). The delivery was by sectio and she had a healthy baby with no complications. This is one of the few intresting genetic counselling for a pregnant Down syndrome patient who has a healthy baby