Prenatal Diagnosis of Haemophilia - psychological, social and ethical aspects

Abstract: The general aim of this study has been to study the psychological, social and ethical aspects for carriers of haemophilia and their spouses, related to the development of techniques for carrier testing and for prenatal diagnosis (PD) of haemophilia. This was investigated by a semi-structured follow-up interview with 29 carriers of haemophilia with experience of PD by fetal blood sampling (FBS), and with 29 carriers (and 23 spouses) with experience of PD by chorionic villus sampling (CVS). The long-term psychological effects of carrier testing, PD and abortion were investigated by a questionnaire study, comparing 105 carriers of haemophilia with and without experience of PD as well as a partially matched control group of 262 women who were not carriers of haemophilia and who had no experience of PD. Many carriers report negative emotional reactions when receiving information about carriership as well as a negative effect on their self image. Most aspects of the PD procedure by FBS were experienced as trying or very trying by somewhat less than half of the women. The prolonged period of uncertainty before the final results of the FBS process were obtained, implied that many carriers had not experienced the pregnancy as real until that point in pregnancy. For some of them even the remainder of the pregnancy became psychologically trying. PD by CVS was generally well accepted by the women and their spouses, appears to be experienced as less complicated than FBS and women do not report problems during the remainder of pregnancy. Positive effects on how the women experienced CVS resulting from participation by the spouse could not be identified. Carrier testing for haemophilia per se and in combination with PD does not appear to have negative long-term psychological effects among carriers who have children. Selective abortion after first trimester PD is experienced as emotionally painful by both the woman and her spouse, the reactions appearing similar to, but not as pronounced as, those found after second trimester selective abortion. Notably, signs of depressive mood were ob-served several years after the abortion, but negative long-term psychological effects could not be identified at a median of 6 years after the abortion.