Women with Sickle Cell Disease (SCD) have been reported to have delayed menarche, increased rates of miscarriage & still birth. There is little evidence of the impact of SCD severity on fertility, or of patients’ attitudes towards their fertility.
Following IRB approval, an anonymised questionnaire was distributed to female patients over the age of 16 attending an SCD clinic. This included questions on menarche, fertility, reproductive history & clinical severity. We also surveyed attitudes to fertility & the role of fertility treatment.
101 women gave informed consent & returned the survey of whom 68 (67%) had sickle cell anaemia (HbSS), 31 (31%) had HbSC & 2 (2%) HbSß0 thalassaemia (HbSß0thal), the group mean age was 38yrs (range 17-74). 46 patients had severe disease phenotype (criteria for severity: ≥3 hospital admissions per year / ≥2 episodes of acute chest crisis/ ≥6 crisis at home per year or on Hydroxycarbamide (HU) therapy), 78% (36/46) had HbSS & 49%(2/46) HbSC. 49% (22/46) were on HU, of whom 19 (86%) had HbSS & 3 (14%) HbSC, the mean duration on HU was 4.7 years (range 2 weeks–15 years). 3 patients with HbSS, were on a chronic transfusion program, 1 as secondary stroke prevention & 2 for disease severity.
Mean age of menarche was 14 yrs (range 10-19). HbSC patients’ mean age of menarche was 13yrs (range 10-16), HbSS patients mean age of menarche was 14 yrs (range 10-19).
30% (30/101), (24 with HbSS & 6 with HbSC), had never been pregnant. This group had a mean age of 28yrs (range 17-46), 1 never wanted children, 2 had previously been advised not to conceive, 1 was actively trying for a baby, & 1 patient was awaiting in vitro fertilisation therapy (IVF). There was no difference in the severity of sickle disease in this group compared to the group with pregnancies.
70%(71/101) reported a total of 211 pregnancies, resulting in 111 (52%) successful deliveries (SDs) i.e. a live child/children. Further evaluation of 175 (81%) pregnancies revealed 98 (56%) SDs, (5 sets of twins & 1 early neonatal death equating to 102 live births), 45 (26%) miscarriages, 27 (15%) terminations of pregnancy & 5 (3%) still births (pregnancy loss at > 24 weeks gestation). 52% (50/96) & 63% (47/75) of pregnancies in women with HbSS & HbSC resulted in SDs respectively, as did 25%(1/4) of pregnancies in HbSß0thal women.
74% (53/71) had at least 1 miscarriage (mean 1.7, range 1-7) there was no correlation between miscarriage & sickle genotype or age at pregnancy. 46% (20/46) & 63% (36/55) of patients with severe & milder disease phenotype had miscarriages respectively (p = 0.01). The mean age at termination of pregnancy (26yrs) was lower, compared to 30yrs for women who had SDs or miscarriage & stillbirth (31yrs).
In total 41% (72/175) pregnancies were unplanned. 96% (26/27) of terminated pregnancies were unplanned, as were 32% (31/98) of SDs & 28% (15/50) of miscarriages. 28% (28/100) of responders were currently using contraception.
12 (16%) of 71 women reporting pregnancies had no children, they had a total of 21 pregnancies (mean 1.75, range 1-7), 8 (67%) had HbSS, 3 (25%) HbSC.
18% (18/101) thought sickle may have affected their fertility, 93% (93/101) reported having children as being important, this included 28 (93%) of 30 women who had reported no pregnancies. 62% (63/101) would consider prenatal diagnoses (PND) if their partner had sickle cell trait, 59% (60/101) would consider pre implantation diagnosis (PIGD) & 24% ( 24/101) would consider termination of an fetus with SCD.
This study confirms that compared to the normal UK population, women with SCD, have a slightly increased rate of miscarriage & a significantly elevated rate of stillbirth 3% vs 0.005%. Menarche is delayed by a year in patients with HbSS & women with HbSC are more likely to have a successful pregnancy.
Although 74% of the women had miscarriage & only 56% of pregnancies resulted in a successful delivery, the majority of women were unaware of the effect of SCD on fertility. Most were not currently using any form of contraception, the rate of unplanned pregnancy was lower at 41% than that in the normal UK population of 50%.
These women report having a child as being very important to them, & though majority would consider PND & PIGD only a minority (24%) would terminate a foetus diagnosed with SCD. This study is limited by being retrospective & single centred, further multi-centre prospective studies are required to validate these results.
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