Abstract
BackgroundFanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy. Successful pregnancies in transplanted patients have been reported. In this paper we will describe the pregnancy of a patient with Fanconi anaemia without transplantation.Case presentationA 34-year-old nulliparous woman with Fanconi anaemia was referred to our institution. Pregnancy was complicated by progressive pancytopenia and two severe infections. C-section was performed at 36 weeks. Both infant and mother are well.ConclusionSuccessful pregnancy in a Fanconi anaemia patient with bone marrow failure is possible. The mode of delivery in patients with bone marrow failure should be determined by obstetric indications. The case highlights the safe outcome of the pregnancy with strict clinical and laboratory control by a multidisciplinary team.
Highlights
Fanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy
We proposed a dose of Granulocyte colonystimulating factor (G-CSF) but the patient refused
AA is a pancytopenia associated with unexplained hypocellularity of the bone marrow
Summary
Fanconi anaemia is a rare inherited disease characterized by congenital abnormalities, progressive bone marrow failure and predisposition to malignancy. Published reports show that if pregnancy occurs in FA patients after HSCT, it has a favourable outcome [1]. PRBC and platelet transfusions were performed weekly to maintain haemoglobin level above of 9–10 mg/dL and platelet count above 10 × 109/L in the first trimester and of 5 × 109/L.
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