High Risk Pregnancies in Women with Diamond Blackfan Anaemia: A Survey of 64 Pregnancies from the French and German Registries.

Diamond Blackfan anaemia (DBA) is a rare disorder characterised by pure red cell aplasia and inconstant congenital abnormalities. Few data are available concerning pregnancy in DBA affected women.

We report on 60 women (age>18 yr) included in the French and German DBA registries. Among them, 26/60 experienced one or several pregnancies. Mean age at 1st pregnancy was 24 yr and the mean number of pregnancies by woman was 2.5. A total of 64 pregnancies occurred, 22 being normal and 42 being complicated (66%). Eight women experienced only normal pregnancies and 18 experienced at least one complicated pregnancy. Complications included abortions: 26 of which 24 were spontaneous, in utero foetal deaths:5, foetal malformations:7, intrauterine growth retardation:10, pre-term deliveries:7, gestational diabetes:2, pre-eclampsia:5 and retro-placental haematomas:3 (more than 1 complication occurred in some pregnancies). A pathological examination of the placenta was performed in 4 cases and demonstrated significant infarctions in 3.

As a result of those 64 pregnancies, only 34 children were born alive (53%) from whom 14 were DBA-affected (41%). All women survived. In most cases, treatment with transfusion or steroid was increased during pregnancy.

When complicated and normal pregnancies were compared, no obvious correlation between the outcome of the pregnancy and clinical or biological features of maternal DBA, mother treatment, genetic status (RPS19 gene mutation present or not) or the status of the child were found. This suggests that at least some complications may be related to the affected mothers, irrespective of the DBA status of their offspring. Actually, many of these complications are similar to those observed in pregnancies associated with vascular-placental disease.

Among the 34 women who did not present any pregnancy, 20 did not desire children for various reasons, 4 had a follow-up for infertility and 10 had severe polymorbidity. Infertility was likely to be treatment related (iron overload or bone marrow graft side effects).

From this study together with the literature data, we conclude that pregnancies in DBA affected women must be managed as high-risk pregnancies. Such pregnancies should therefore be carefully monitored with a satisfying control of anaemia, preferably with transfusions, and ultrasound and Doppler follow-up. Early introduction of aspirin, should be discussed especially when a woman experienced a previous complicated pregnancy. An international prospective follow-up of pregnancies in DBA is now required in order to confirm the association with placenta-vascular disease features and to improve the outcome of pregnancy in women with DBA