Parental decisions following the prenatal diagnosis of sex chromosome abnormalities.
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.
Hamamy
Hanan A
HA
Laboratoire de Cytogénétique, Division de Génétique Médicale, CMU, 1 rue Michel Servet, 1211 Genève 4, Switzerland.
Dahoun
Sophie
S
D000028:Abortion, Induced / Q000523:psychology*; D000328:Adult; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology; D006801:Humans; D008297:Male; D010290:Parents / Q000523:psychology*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D025064:Sex Chromosome Disorders / Q000175:diagnosis*