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.
Keywords
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Article info
Publication history
Accepted:
December 22,
2003
Received:
April 18,
2003
Identification
Copyright
© 2004 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
