Menstrual blood loss and gynaecological problems in patients with inherited bleeding disorders were assessed in this study. One hundred and sixteen women, including 66 with von Willebrand's disease (vWD), 30 carriers of haemophilia and 20 with factor XI (FXI) deficiency were interviewed and their gynaecological history obtained. Their case records were also reviewed and menstrual loss was objectively assessed using a pictorial blood assessment chart (PBAC). Comparison with an age-matched control group (69 women) was performed. Menorrhagia (PBAC score> 100) was confirmed in 74%, 57% and 59% of women with vWD, carriers of haemophilia and FXI deficiency, respectively, in comparison with 29% in the control group (P = 0.001). PBAC scores were higher in vWD patients with a von Willebrand factor activity (vWF:Ac) of

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.

Ten carriers of haemophilia referred for prenatal diagnosis were offered first trimester non‐invasive fetal gender determination by ultrasound and analysis of free fetal DNA (ffDNA) in maternal plasma in an attempt to reduce the need for an invasive diagnostic procedure in female pregnancies. Although repeat testing was required in three cases, fetal gender was determined correctly in all cases (four females, six males) at a median gestation of 12+3 (11+2 to 14+1) using both methods. In all cases of a female fetus, the mothers opted not to have invasive testing. Both methods provide a reliable option of avoiding invasive testing in female pregnancies.

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