Aim To understand the underlying pathology and antenatal, intrapartum and postnatal issues associated with Fanconi anaemia, and to appreciate the importance of care planning and MDT working. Discussion Described first in 1927, Fanconi anaemia is one of an autosomal recessive group of inherited bone marrow failure syndromes. It is characterised by dysmorphic features, pancytopenic bone marrow failure, and susceptibility to certain malignancies. It can be associated with delayed puberty, primary infertility and premature menopause, with limited data on pregnancy management. We present a case of a 23 year old primigravida with pre-existing Fanconi Anaemia. She was known to have severe thrombocytopenia and anaemia, both transfusion dependent. Despite relative stability pre-pregnancy her obstetric course was complicated by superimposed pre-eclampsia and worsening pancytopenia. Issues were further complicated by ceasing her pre-pregnancy androgens which had maintained her platelet count. Antenatal care was managed in a specialist joint haematology clinic with support from national centres and the local blood transfusion service. Additionally potential fetal implications of Fanconi anaemia were considered with the neonatology team. Considerable thought and planning was given to her mode of delivery and intrapartum blood product requirements. The risks and benefits of operative vs. vaginal delivery were debated, with elective Caesarean Section chosen. Post pregnancy follow up included detailed discussion of future contraception leading to hysteroscopic sterilisation. Conclusion Fanconi anaemia presents many fetal and maternal challenges to the management of pregnancy. Managing rare complex cases such as this not only requires detailed planning but also excellent inter-disciplinary team communication.
Background Spontaneous adrenal haemorrhage (SAH) is an acute, spontaneous haemorrhage of the adrenal gland associated with acute abdominal pain in the absence of prior trauma or anticoagulant therapy. It is a rare condition and has been reported in association with pregnancy. Physiological hypervascularity of adrenal glands during pregnancy, stress, adrenal venous thrombosis and hypertension have been suggested as predisposing factors for SAH during pregnancy.1 Case Report A 31-year-old primigravida presented at 15 weeks gestation with sudden onset back pain which failed to settle with simple analgesia. Blood tests revealed haemoglobin of 4.6 g/dl and MRI scan showed a 25cm haematoma attached to the right adrenal gland. The bleed was managed conservatively and, following 8 units blood transfusion, haemoglobin was 9.7 g/dl. Investigations for phaeochromocytoma were negative. Basic screen for possible bleeding tendency was normal. The patient remained stable throughout the pregnancy. Serial growth ultrasound scans showed satisfactory fetal growth increments. Repeat MRI scan in the third trimester showed the size of the haematoma had reduced significantly. The patient was delivered of a male infant weighing 3350 g in December 2009 by elective caesarean section. Postoperative recovery was uneventful and mother and baby were discharged home well. Discussion The incidence of SAH ranges from 0.14% to 1.1%. It may be unilateral or bilateral; unilateral adrenal haemorrhage usually involves the right gland.1 Adrenal haemorrhage may result in maternal death and those who survive may develop adrenal insufficiency.2 Thus it is important to consider SAH in the differential diagnosis of a symptomatic adrenal mass in pregnancy.3
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