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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to European Journal of Obstetrics and Gynecology and Reproductive Biology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Intrauterine diagnosis of sex chromosome aneuploidy.Obstet. Gynecol. 1996; 87: 468-475
- Prenatal decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time.Prenat. Diagn. 2000; 20: 37-40
- Long-term outcome in children of sex chromosome abnormalities.Arch. Dis. Child. 1999; 80: 192-195
- Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities.Am. J. Med. Genet. 2002; 110: 11-18
- Genetic counseling for sex chromosome abnormalities.Am. J. Med. Genet. 2002; 110: 3-10
Nielsen J, Videbech P. Diagnosing of chromosome abnormalities in Denmark. Clin Genet 1984;26:422–8.
- Analysis of decision to continue of terminate pregnancies diagnosed with sex chromosome abnormalities by severity of prognosis, socioeconomic level and sex of fetus.Am. J. Hum. Genet. 1986; 39: A183
- Prenatal decisions regarding termination of pregnancy following prenatal detection of sex chromosome abnormality.Prenat. Diag. 1987; 7: 239-244
- Pregnancy termination because of chromosomal abnormalities: a study of 26,950 amniocenteses in the southeast.South. Med. J. 1991; 84: 1210-1213
- Prognosis of prenatally diagnosed children with sex chromosome aneuploidy.Am. J. Med. Genet. 1992; 44: 365-368
- Low rates of pregnancy termination for prenatally diagnosed Klinfelter syndrome and other sex chromosome polysomies.Am. J. Med. Genet. 1998; 80: 330-334
- Prenatal outcome of sex chromosome anomalies diagnosed during pregnancy: a retrospective study of 47 cases. Article in French.J. Gynecol. Obstet. Biol. Reprod. (Paris). 2000; 29: 668-676
- What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study.BMJ. 2001; 322: 463-466
- Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination.Prenat. Diagn. 2001; 21: 461-465
- Parental decisions of prenatally detected sex chromosome abnormality.J. Korean Med. Sci. 2002; 17: 53-57
Forrester MB, Merz RD. Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986–1999. Am J Med Genet 2003;15;119A(3):305–10.
- Attitudes towards termination for fetal abnormality: comparisons in three European countries.Clin. Genet. 1996; 49: 134-140
- Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professinoalsdagger.Prenat. Diagn. 2002; 22: 562-566
- Decisions following the intrauterine diagnosis of sex chromosome aneuploidy.Am. J. Med. Genet. 1989; 34: 552-554
- Counselling following the prenatal diagnosis of Klinefelter syndrome: comparisons between geneticists and obstetricians in five European countries.Commun. Genet. 2001; 4: 233-238
- Prenatal and postnatal prevalence of Turner syndrome: a registry study.BMJ. 1996; 312: 16-21
- The centralized prenatal genetics screening program of New York city III: the first 7000 cases.Am. J. Med. Genet. 1985; 20: 369-384
- Determinants of prenatal decisions to abort for chromosome abnormalities.Prenat. Diagn. 1990; 10: 483-490
Accepted: December 22, 2003
Received: April 18, 2003
© 2004 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.