Pregnancy in patients with beta-thalassaemia major: maternal and foetal outcome.

摘要

Right from an early age, patients with beta-thalassaemia major (TM) develop severe anaemia which requires continuous blood transfusions. The excess iron leads to tissue haemosiderosis with damage to the myocardium, liver and endocrine glands, and pubertal growth failure, delayed onset of menarche, amenorrhoea, chronic anovulation and infertility [1, 2]. Therapeutic advances in paediatrics and haematology have significantly increased the average lifespan of sufferers and improved both their quality of life and reproductive ability. Five women affected by TM referred to our department in order to plan a pregnancy were studied. Anamnestic information was collected from the women's medical records and directly from the patients. The haematological disorder had been diagnosed at the Thalassaemia Ward of our University in all women before they were 2 years old. Patients had prenatal counselling before pregnancy and also underwent cardiac evaluation (physical examination, electrocardiography and echocardiography), endocrine assessment and screening for bacterial and viral infections. During pregnancy, maternal weight gain, blood pressure, urine analysis, full blood cell counts and haemoglobin (Hb) concentration were performed every 2 weeks, serum ferritin concentration was evaluated every month and cardiac function was assessed every trimester. The frequency of transfusions was increased to maintain a maternal Hb level close to 10 g/dl. Ultrasonography was performed during the first trimester and then at weeks 20, 24, 30 and 34 of gestation, while electronic foetal monitoring was assessed once a week from week 30 onwards. All patients underwent a 50-gram glucose challenge test during weeks 24-28 of gestation to screen for gestational diabetes mellitus (GDM), and when positive, a 100-gram oral glucose tolerance test was performed. Gynaecological evaluation was performed at 3-week intervals and all women received folic acid.