Reproductive choices of women in families with haemophilia

Abstract

To assess women's experiences in pregnancy and attitudes towards their reproductive choices, a structured questionnaire was sent to all obligate and potential carriers of haemophilia (A and B), aged 14-60 years, registered with our haemophilia centre. One hundred and ninety-seven of 545 (36%) returned completed questionnaires. Clinical details, including type and severity of the disease in the family and results of DNA analysis for carrier detection, were obtained from patient notes. One hundred and sixty women had been pregnant at least once, of whom 36 (23%) had received a prenatal diagnostic test. Of the 41 women who had pregnancy terminations, haemophilia was the main reason in only 11 (27%) women. This decision was affected by the woman's religion and results of DNA studies. Living close to a haemophilia centre, proper counselling at the centre and awareness of the availability of prenatal diagnostic tests influenced the women's decision to become pregnant in 14% and 10% of first and subsequent pregnancies, respectively. These factors were considered more frequently in women with severe haemophilia in the family (P = 0.002) and in confirmed carriers of haemophilia (P = 0.04). When women made a conscious decision not to have children, the reasons were fear of passing haemophilia onto their child (44%), previous experience with haemophilia (6%) and the stress of going through prenatal tests (7%). Severity of the disease in the family, haemophilia diagnosis, results of DNA studies, religion and year of birth had no effect on this decision. Our data indicate that haemophilia and related factors in the family have an influence on women's reproductive choices.

Decreased mortality of ischaemic heart disease among carriers of haemophilia

“…10 Reported maternal mortality by the Central Bureau of Statistics during pregnancy and delivery, however, is so low, at 3-6 per l million women in 1995, that a noticeable effect on our results is extremely unlikely. Finally, the presence of a severe hereditary disease in the family could promote health-conscious behaviour within the family.…”

“…Because they have one unaffected allele, carriers have concentrations of clotting factor VIII or IX of about 50% of normal and, hence, decreased coagulability.'' 10 However, if carriers do have an increased bleeding tendency, it is mild. 11 To determine whether a mild, in most cases asymptomatic, decreased coagulability protects against ischaemic cardiovascular events, we compared overall and cause-specific mortality in carriers of the recessive gene for haemophilia with that in the general population.…”

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

“…1,2,24 Consequently, many pregnant women from at-risk families do not consent to invasive testing because of the associated risks. 25,26 Noninvasive fetal sex determination by the use of circulating fetal DNA has provided one safe alternative for managing such pregnancies. 27 Through the detection of chromosome Y DNA sequences in maternal plasma, male fetuses could be identified with an accuracy of greater than 97% from the 7th week of gestation onwards.…”

“…A total of 3%-4% of infants with hemophilia experience a cranial bleed 30 that occurs during labor and delivery. Prolonged labor and difficult instrumental deliveries are the main risk factors for this complication 25,26 and should be avoided for delivery of affected fetuses. 18 It is also recommended that affected fetuses are delivered in a tertiary unit with an affiliated hemophilia center to ensure availability of necessary expertise and resources for their management.…”

Chronic diseases influence major life changing decisions: a new domain in quality of life research

“…Fifty-four percent of women reported that having haemophilia was a major factor in this decision; 44% of women did not want to transfer haemophilia to their child, 6% had previous experience of haemophilia in the family, and 27% reported personal, social, financial and medical reasons for this decision. 15 This questionnaire survey revealed individuals' priorities in different life situations, such as the prime example of disease influence on having children. Various studies suggest that the decision to have genetic testing could be a life changing decision and may impact on family planning, interpersonal relationships, social, financial and employment aspects.…”