Journal of Genetic Counseling

, Volume 26, Issue 3, pp 628–639 | Cite as

Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners

  • Motoko Watanabe
  • Mari Matsuo
  • Masaki Ogawa
  • Toshitaka Uchiyama
  • Satoru Shimizu
  • Naoko Iwasaki
  • Akemi Yamauchi
  • Mari Urano
  • Hironao Numabe
  • Kayoko Saito
Original Research
  • 315 Downloads

Abstract

The recent advent of noninvasive prenatal testing (NIPT) has had a significant impact in the field of prenatal testing. Although reports on pregnant women who used NIPT have accumulated, little is known about the experiences of their male partners. In this study, we assessed the experiences of couples who were expecting a child and undergoing NIPT, with a focus on both the pregnant women and their partners. Questionnaires were administered to 282 participants focusing on their specific experiences at three time points: after pre-test counseling (first visit), when undergoing NIPT (second visit), and when results were received (third visit). Responses were analyzed to assess the differences between pregnant women and their partners. We found that more partners selected “family” as their first information source about NIPT and “my partner” as the first person to request NIPT than did pregnant women (35.6 vs. 5.9 %; p < 0.001 and 19.3 vs.1.5 %; p < 0.001). However, pregnant women more often consulted others including family and friends until undergoing NIPT than their partners (89.1 vs. 54.6 %; p < 0.001). Our findings suggest that it is important to encourage male partners to be actively involved in the NIPT decision-making process. Differences between pregnant women and their partners should be seriously considered when providing genetic counseling.

Keywords

NIPT Prenatal testing Genetic counseling Partners Pregnant women Couples Decision-making 

Notes

Acknowledgments

We thank Y. Akizawa, E. Kondo, and M. Tsubata for support and advice; and B. Barfod and A. Holmes for critically reading the manuscript. Part of this work was carried out by a TWMU Grant-in-Aid for clinical research.

Compliance with Ethical Standards

Conflict of Interest

Motoko Watanabe, Mari Matsuo, Masaki Ogawa, Toshitaka Uchiyama, Satoru Shimizu, Naoko Iwasaki, Akemi Yamauchi, Mari Urano, Hironao Numabe, and Kayoko Saito declare that they have no conflicts of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the 1975 Helsinki Declaration, as revised in 2000. Informed consent was obtained from all patients before inclusion in the study.

Animal Studies

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

References

  1. Alexander, E., Kelly, S., & Kerzin-Storrar, L. (2015). Non-invasive prenatal testing: UK genetic counselors’ experiences and perspectives. Journal of Genetic Counseling, 24, 300–311.CrossRefPubMedGoogle Scholar
  2. Allyse, M., Minear, M. A., Berson, E., Sridhar, S., Rote, M., Hung, A., & Chandrasekharan, S. (2015). Non-invasive prenatal testing: a review of international implementation and challenges. International Journal of Women’s Health, 7, 113–126.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Buchanan, A., Sachs, A., Toler, T., & Tsipis, J. (2014). NIPT: current utilization and implications for the future of prenatal genetic counseling. Prenatal Diagnosis, 34, 850–857.CrossRefPubMedGoogle Scholar
  4. Cederholm, M., Axelsson, O., & Sjödén, P. O. (1999). Women’s knowledge, concerns and psychological reactions before undergoing an invasive procedure for prenatal karyotyping. Ultrasound in Obstetrics & Gynecology, 14, 267–272.CrossRefGoogle Scholar
  5. Deans, Z., Hill, M., Chitty, L. S., & Lewis, C. (2013). Non-invasive prenatal testing for single gene disorders: exploring the ethics. European Journal of Human Genetics, 21, 713–718.CrossRefPubMedGoogle Scholar
  6. Devers, P. L., Cronister, A., Ormond, K. E., Facio, F., Brasington, C. K., & Flodman, P. (2013). Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. Journal of Genetic Counseling, 22, 291–295.CrossRefPubMedGoogle Scholar
  7. Dheensa, S., Metcalfe, A., & Williams, R. A. (2013). Men’s experiences of antenatal screening: a metasynthesis of the qualitative research. International Journal of Nursing Studies, 50, 121–133.CrossRefPubMedGoogle Scholar
  8. Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., et al. (2015). Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. European Journal of Human Genetics, 23, 1438–1450.CrossRefPubMedPubMedCentralGoogle Scholar
  9. Draper, J. (2002). “It”s the first scientific evidence’: men’s experience of pregnancy confirmation. Journal of Advanced Nursing, 39, 563–570.CrossRefPubMedGoogle Scholar
  10. Hillman, S. C., Skelton, J., Quinlan-Jones, E., Wilson, A., & Kilby, M. D. (2013). “If it helps…” the use of microarray technology in prenatal testing: patient and partners reflections. American Journal of Medical Genetics Part A, 161A, 1619–1627.CrossRefPubMedGoogle Scholar
  11. Horsting, J. M. H., Dlouhy, S. R., Hanson, K., Quaid, K., Bai, S., & Hines, K. A. (2014). Genetic counselors’ experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy. Journal of Genetic Counseling, 23, 377–400.CrossRefPubMedGoogle Scholar
  12. Jaques, A. M., Bell, R. J., Watson, L., & Halliday, J. L. (2004). People who influence women’s decisions and preferred sources of information about prenatal testing for birth defects. The Australian & New Zealand Journal of Obstetrics & Gynaecology, 44, 233–238.CrossRefGoogle Scholar
  13. Kenen, R., Smith, A. C. M., Watkins, C., & Zuber-Pittore, C. (2000). To use or not to use: male partners’ perspectives on decision making about prenatal diagnosis. Journal of Genetic Counseling, 9, 33–45.CrossRefPubMedGoogle Scholar
  14. Lo, Y. M., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., & Wainscoat, J. S. (1997). Presence of fetal DNA in maternal plasma and serum. Lancet, 350, 485–487.CrossRefPubMedGoogle Scholar
  15. Locock, L., & Alexander, J. (2006). “Just a bystander”? Men’s place in the process of fetal screening and diagnosis. Social Science & Medicine, 62, 1349–1359.CrossRefGoogle Scholar
  16. Manegold-Brauer, G., Kang Bellin, A., Hahn, S., De Geyter, C., Buechel, J., Hoesli, I., & Lapaire, O. (2014). A new era in prenatal care: non-invasive prenatal testing in Switzerland. Swiss Medical Weekly, 144, w13915.PubMedGoogle Scholar
  17. Markens, S., Browner, C. H., & Preloran, H. M. (2003). “I’m not the one they’re sticking the needle into” Latino couples, fetal diagnosis, and the discourse of reproductive rights. Gender and Society, 17, 462–481.CrossRefGoogle Scholar
  18. 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
  19. Nishiyama, M., Sawai, H., & Kosugi, S. (2013). The current state of genetic counseling before and after amniocentesis for fetal karyotyping in Japan: a survey of obstetric hospital clients of a prenatal testing laboratory. Journal of Genetic Counseling, 22, 795–804.CrossRefPubMedGoogle Scholar
  20. Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., et al. (2011). DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genetics in Medicine, 13, 913–920.CrossRefPubMedGoogle Scholar
  21. Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., et al. (2012). DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genetics in Medicine, 14, 296–305.CrossRefPubMedPubMedCentralGoogle Scholar
  22. Reed, K. (2009). ‘It’s them faulty genes again’: women, men and the gendered nature of genetic responsibility in prenatal blood screening. Sociology of Health and Illness, 31, 343–359.CrossRefPubMedGoogle Scholar
  23. Sago, H., & Sekizawa, A. (2015). Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience. Prenatal Diagnosis, 35, 331–336.CrossRefPubMedGoogle Scholar
  24. Sasaki, A., Sawai, H., Masuzaki, H., Hirahara, F., & Sago, H. (2011). Low prevalence of genetic prenatal diagnosis in Japan. Prenatal Diagnosis, 31, 1007–1009.CrossRefPubMedGoogle Scholar
  25. Suzumori, N., Ebara, T., Kumagai, K., Goto, S., Yamada, Y., Kamijima, M., & Sugiura-Ogasawara, M. (2014). Non-specific psychological distress in women undergoing noninvasive prenatal testing because of advanced maternal age. Prenatal Diagnosis, 34, 1055–1060.CrossRefPubMedGoogle Scholar
  26. Taylor, J. B., Chock, V. Y., & Hudgins, L. (2014). NIPT in a clinical setting: an analysis of uptake in the first months of clinical availability. Journal of Genetic Counseling, 23, 72–78.CrossRefPubMedGoogle Scholar
  27. Warsof, S. L., Larion, S., & Abuhamad, A. Z. (2015). Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenatal Diagnosis, 35, 972–979.CrossRefPubMedGoogle Scholar
  28. Williams, R. A., Dheensa, S., & Metcalfe, A. (2011). Men’s involvement in antenatal screening: a qualitative pilot study using e-mail. Midwifery, 27, 861–866.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  1. 1.Institute of Medical GeneticsTokyo Women’s Medical UniversityTokyoJapan
  2. 2.Department of Genetic Counseling, Graduate School of Humanities and SciencesOchanomizu UniversityTokyoJapan
  3. 3.Maternal and Perinatal CenterTokyo Women’s Medical UniversityTokyoJapan
  4. 4.Medical Research InstituteTokyo Women’s Medical UniversityTokyoJapan
  5. 5.Diabetes CenterTokyo Women’s Medical UniversityTokyoJapan

Personalised recommendations