Journal of Genetic Counseling

, Volume 24, Issue 1, pp 117–121 | Cite as

Parental Decisions Following Prenatal Diagnosis of Chromosomal Abnormalities: Implications for Genetic Counseling Practice in Japan

  • Nobuhiro Suzumori
  • Kyoko Kumagai
  • Shinobu Goto
  • Akira Nakamura
  • Mayumi Sugiura-Ogasawara
Original Research


Parental decision-making to terminate or continue a pregnancy was studied after prenatal diagnosis of a chromosome aneuploidy among a sample of patients around the city of Nagoya, Japan. A total of 1,051 amniocentesis cases at 15–18 weeks of gestation were analyzed. Of these, 60 cases of chromosomal anomalies with aneuploidies were diagnosed by conventional cytogenetic analysis. Of the 45 diagnoses of autosomal chromosome aneuploidies, pregnancy was terminated in 93.3 % of the cases. Of the 15 cases diagnosed with sex chromosome aneuploidy, pregnancy was terminated in 46.7 %. Differences in parental decisions with respect to maternal age, gestational week at diagnosis, number of pregnancies per individual and existing number of children were not significant in patients diagnosed either with autosomal or sex chromosome aneuploidy. The findings indicate that when diagnosed with a chromosome aneuploidy in which a severe prognosis was expected, most couples decided to terminate the pregnancy in Japan. Implications of these findings for expanding the profession of genetic counseling are discussed and research recommendations are provided.


Prenatal diagnosis Termination Genetic counseling Chromosome aneuploidy Japan 


Conflict of Interest

Nobuhiro Suzumori, Kyoko Kumagai, Shinobu Goto, Akira Nakamura and Mayumi Sugiura-Ogasawara declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2014_9744_MOESM1_ESM.pdf (631 kb)
ESM 1 (PDF 630 kb)


  1. Balkan, M., Kalkanli, S., Akbas, H., Yalinkaya, A., Alp, M. N., & Budak, T. (2010). Parental decisions regarding a prenatally detected fetal chromosome abnormality and the impact of genetic counseling: An analysis of 38 cases with aneuploidy in Southeast Turkey. Journal of Genetic Counseling, 19, 241–246.PubMedCrossRefGoogle Scholar
  2. Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012). Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Maternal blood is source to accurately diagnose fetal aneuploidy (MELISSA) Study Group. Obstetrics and Gynecology, 119, 890–901.PubMedCrossRefGoogle Scholar
  3. Britt, D. W., Risinger, S. T., Miller, V., Mans, M. K., Krivchenia, E. L., & Evans, M. (2000). Determinants of parental decisions after the prenatal diagnosis of Down syndrome: Bringing in context. American Journal of Medical Genetics, 93, 410–416.PubMedCrossRefGoogle Scholar
  4. Dzurova, D., & Pikhart, H. (2005). Down syndrome, paternal age and education: Comparison of California and the Czech Republic. BMC Public Health, 5, 69.PubMedCentralPubMedCrossRefGoogle Scholar
  5. Eldahdah, L. T., Ormond, K. E., Nassar, A. H., Khalil, T., & Zahed, L. F. (2007). Outcome of chromosomally abnormal pregnancies in Lebanon: Obstetricians’ roles during and after prenatal diagnosis. Prenatal Diagnosis, 27, 525–534.PubMedCrossRefGoogle Scholar
  6. Forrester, M. B., & Merz, R. D. (2003). Pregnancy outcomes and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999. American Journal of Medical Genetics, 119A, 305–310.PubMedCrossRefGoogle Scholar
  7. Hawkins, A., Stenzel, A., Taylor, J., Chock, V.Y., Hudgins, L. (2012). Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities. Journal of Genetic Counseling, Sept 23.Google Scholar
  8. Kato, M. (2010). Quality of offspring? Socio-cultural factors, pre-natal testing and reproductive decision-making in Japan. Culture, Health & Sexuality, 12, 177–189.CrossRefGoogle Scholar
  9. Mansfield, C., Hopfer, S., & Marteau, T. M. (1999). Termination rates after prenatal diagnosis of Down syndrome, Spina Bifida, Anencephaly, and Turner and Klinefelter syndromes: A systematic literature review. Prenatal Diagnosis, 19, 808–812.PubMedCrossRefGoogle Scholar
  10. Mezei, G., Papp, C., Toth-Pal, E., Beke, A., & Papp, Z. (2004). Factors influencing parental decision making prenatal diagnosis of sex chromosome aneuploidy. Obstetrics and Gynecology, 104, 94–101.PubMedCrossRefGoogle Scholar
  11. Murakami, K., Tsujino, K., Sase, M., Nakata, M., Ito, M., & Kutsunugi, S. (2012). Japanese women’s attitudes towards routine ultrasound screening during pregnancy. Nursing & Health Sciences, 14, 95–101.CrossRefGoogle Scholar
  12. Pinsker, J. E. (2012). Clinical review: Turner syndrome: updating the paradigm of clinical care. Journal of Clinical Endocrinology and Metabolism, 97, E994–E1003.PubMedCrossRefGoogle Scholar
  13. Quadrelli, R., Quadrelli, A., Mechoso, B., Laufer, M., Jaumandreu, C., & Vaglio, A. (2007). Prenatal decisions to abort or continue a pregnancy following prenatal diagnosis of chromosome abnormalities in a setting where termination of pregnancy is not legally available. Prenatal Diagnosis, 27, 228–232.PubMedCrossRefGoogle Scholar
  14. R Development Core Team. (2009). R: A language and environment for statistical computing. Vienna: R Foundation for Statistical Computing. ISBN 3-900051-07-0.Google Scholar
  15. Sasaki, A., Sawai, H., Masuzaki, H., Hirahara, F., & Sago, H. (2011). Low prevalence of genetic prenatal diagnosis in Japan. Prenatal Diagnosis, 31, 1007–1009.PubMedCrossRefGoogle Scholar
  16. Schechtman, K. B., Gray, D. L., Baty, J. D., & Rothman, S. M. (2002). Decision-making for termination of pregnancies with fetal anomalies: Analysis of 53,000 pregnancies. Obstetrics and Gynecology, 99, 216–222.PubMedCrossRefGoogle Scholar
  17. Shaffer, B. L., Caughey, A. B., & Norton, M. E. (2006). Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenatal Diagnosis, 26, 667–671.PubMedCrossRefGoogle Scholar
  18. Shojai, R., Boubli, L., & d’Ercole, C. (2005). Prognosis work-up in prenatal medicine: The example of Down’s syndrome. Gynécologie, Obstétrique & Fertilité, 33, 514–519.CrossRefGoogle Scholar
  19. Suzumori, N., Ebara, T., Kumagai, K., Goto, S., Yamada, Y., Kamijima, M. & Sugiura-Ogasawara, M. (2014) Non-specific distress in women undergoing noninvasive prenatal testing because of advanced maternal age. Prenatal Diagnosis.Google Scholar
  20. Zahed, L., Nabulsi, M., & Tamim, H. (2002). Attitudes towards prenatal diagnosis and termination of pregnancy among health professionals in Lebanon. Prenatal Diagnosis, 22, 880–886.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Nobuhiro Suzumori
    • 1
  • Kyoko Kumagai
    • 1
  • Shinobu Goto
    • 1
  • Akira Nakamura
    • 2
  • Mayumi Sugiura-Ogasawara
    • 1
  1. 1.Division of Clinical and Molecular Genetics, Department of Obstetrics and GynecologyNagoya City University Graduate School of Medical SciencesNagoyaJapan
  2. 2.Chiba University of CommerceIchikawaJapan

Personalised recommendations