Analysis of the causes of rejection of pregnant women at risk of chromosomal abnormalities in the fetus from invasive prenatal diagnosis

The effect of different demographic and social factors on the consent of pregnant women for invasive prenatal diagnosis or rejection of it was analyzed. Pregnant women from the Moscow region were examined in the period from 12.12.2012 till 30.10.2014. 1580 pregnant women were at the risk of chromosomal abnormalities in the fetus of 1: 100 and above. All of them have received genetic counseling. Invasive procedure was carried out in 1164 (73.7%) of them, 416 (26.3%) rejected it. Data on age, place of residence, social status, presence or absence of children, children’s health, the presence or absence of spontaneous abortions have been received. The proportion of women who refused invasive procedure, significantly differed from two genetic counselors c² = 7.8; p = 0.0055). First counselor’s patients significantly more frequently indicated that they feared complications of invasive procedures (63.8% vs 31%), or they could not formulate reasons for the refusal of it (83.3% vs 16.7%). Second counselor’s patients significantly more frequently pointed to the decision to have a child, regardless of his health (70% vs 30%). The results demonstrate the need for national guidelines on prenatal genetic counseling and additional training of geneticists involved in the program of early prenatal screening.

ранний пренатальный скрининг, инвазивная пренатальная диагностика, медико-генетическое консультирование, причины отказов, хромосомные аномалии, early prenatal screening, invasive prenatal diagnosis, medical genetic counseling, causes of failures, chromosomal abnormalities

1. Brunger F, Lippman A. Resistance and adherence to the norms of genetic counseling. J Genet Couns. 1995 Sep; 4(3):151-67. doi: 10.1007/BF01408406

2. Hart ZP. Ethically communicating a prenatal Down Syndrome diagnosis: a theoretical model describing its impact on pregnancy termination decisions. International Journal of Disability, Community & Rehabilitation. 2013; 12 (2) Available at: www.ijdcr.ca/VOL12_02/articles/hart.shtml

3. Proposed international guidelines on ethical issues in medical genetics and genetic services: report of WHO meeting on Ethical Issues in Medical Genetics, Geneva, 15-16 December Geneva: World Health Organization1997 WHO/HGN/GL/ETH/98.1 15 p. Available at: www.who.int/iris/handle/10665/63910

4. Janis IL. The patient as decision maker. In Handbook of Behavioral Medicine. W.D. Gentry (ed). New York: The Guilford Press, 1984. 326-368.

5. Lawson KL, Pierson RA. Maternal Decisions Regarding Prenatal Diagnosis: Rational Choices or Sensible Decisions? J Obstet Gynaecol Can. 2007 Mar; 29(3): 240-246.

6. Жученко Л.А., Голошубов П.А., Андреева Е.Н., Калашникова Е.А., Юдина Е.В., Ижевская В.Л. Анализ результатов раннего пренатального скрининга, выполняющегося по национальному приоритетному проекту «Здоровье» в субъектах Российской Федерации. Результаты российского мультицентрового исследования «Аудит-2014». Медицинская генетика. 2014; 13 (6): 3-54

7. Skotko BG. Communicating the postnatal diagnosis of Down’s syndrome: An international call for change. Italian Journal of Pediatrics. 2005; 31: 237-243.

8. Weick KE (1979). The social psychology of organizing (2nd ed.) Reading, MA: Addison-Wesley, 1979: 294 p.

9. Roter DL, Stewart M, Putnam SM, Lipkin M, Stiles W, Inui TS. Communication patterns of primary care physicians. Journal of the American Medical Association. 1997; 277: 350-356

10. Petty RE, Cacioppo JT. Communication and persuasion: Central and peripheral routes to attitude change. New York: Springer-Verlag. 1986; XIV, 264. doi 10.1007/978-1-4612-4964-1

11. Bernhardt BA. Empirical evidence that genetic counseling is directive: Where do we go from here? American Journal of Human Genetics. 1997; 60: 17-20.

12. Chipman P. The moral implications of prenatal genetic testing. Penn Bioethics Journal. 2006; 2: 13-16.

13. Verlinde E, De Laender N, De Maesschalck S, Deveugele M, Willems S. The social gradient in doctor-patient communication. International Journal for Equity in Health. 2012; 11: 1-14. doi:10.1186/1475-9276-11-12

14. Bell M, Stoneman Z. Reactions to prenatal testing: reflection of religiosity and attitudes toward abortion and people with disabilities. Am J Ment Retard. 2000 Jan; 105(1):1-13.

15. Bryant L, Hewison JD, Green JM. Attitudes towards prenatal diagnosis and termination in women who have a sibling with Down’s syndrome. J Reprod Infant Psychol. 2005; 23(2):181-198.

16. Quadrelli R, Quadrelli A, Mechoso B, Laufer M, Jaumandreu C, Vaglio A. Parental decisions to abort or continue a pregnancy following prenatal diagnosis of сhromosomal abnormalities in a setting where termination of pregnancy is not legally available. Prenat Diagn.2007;27(3):228-232

17. Britt DW, Risinger ST, Miller V, Mans MK, Krivchenia EL, Evans MI. Determinants of parental decisions after the prenatal diagnosis of Down syndrome: bringing in context. Am J Med Genet. 2000; 93(5):410-416

18. Jacobs M, Cooper S-A, McGowan R, Nelson SM, Pell JP Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies. PLoS ONE. 2016; 11(12):e0166909. doi:10.1371/journal.pone.0166909

19. Kramer RL, Jarve RK, Yaron Y, Johnson MP, Lampinen J, Kasperski SB, Evans MI Determinants of parental decisions after the prenatal diagnosis of Down syndrome Am J Med Genet. 1998 Sep. 23; 79(3):172-4.

20. Choi H., Van Riper M, Thoyre S. Decision making following a prenatal diagnosis of Down syndrome: an integrative review. J Midwifery Womens Health. 2012;57:156-164.

21. Lawson K. Expectations of the parenting experience and willingness to consider selective termination for Down syndrome. J Reprod Infant Psychol. 2006;24(1):43-59.

22. van den Heuvel A, Marteau T. Cultural variation in values attached to informed choice in the context of prenatal diagnosis. Semin Fetal Neonatal Med. 2008 Apr;13(2):99-102. doi: 10.1016/j.siny.2007.12.010.

23. Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, LaGrave D, Brasington CK. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2011 Oct;20(5):432-41. doi: 10.1007/s10897-011-9375-8