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Parental decisions following the prenatal diagnosis of sex chromosome abnormalities

Authors
Journal
European Journal of Obstetrics & Gynecology and Reproductive Biology
0301-2115
Publisher
Elsevier
Publication Date
Volume
116
Issue
1
Identifiers
DOI: 10.1016/j.ejogrb.2003.12.029
Keywords
  • Sex Chromosome Abnormalities
  • Parental Decisions
  • Prenatal Diagnosis
  • Pregnancy Termination
  • Cytogenetics
Disciplines
  • Medicine

Abstract

Abstract Objective: To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus. Methods: Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus in the Division of Medical Genetics, University Hospital of Geneva during the time period 1980–2001. Results: Among 61 couples with a prenatal diagnosis of a sex chromosome abnormality (SCA), 44 couples (72.1%) decided to terminate pregnancy. Pregnancy termination rates were 100, 73.9, 70, 50 and 42.9% for Turner syndrome, Klinefelter syndrome, 47,XXX females, 47,XYY males, and mosaic cases, respectively. In all 11 cases with a fetal abnormality seen on ultrasound, pregnancy was terminated. Termination rates were higher among couples with a higher mean number of previous children. Maternal age and year of test did not influence parental decisions. Conclusions: Parental decision to terminate a pregnancy for a fetus with a SCA varied by type of sex chromosome abnormality, by presence of fetal ultrasound anomalies, and by the mean number of previous children.

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