Abstract

GOMES, Helena et al. Fanconi Anemia and pregnancy: a new reality. Acta Obstet Ginecol Port [online]. 2022, vol.16, n.1, pp.62-65.  Epub Mar 31, 2022. ISSN 1646-5830.

Fanconi Anemia (FA) is a rare hereditary syndrome which commonly causes infertility. We present a case of a spontaneous successful pregnancy in a patient with FA. During pregnancy, she had a progressive worsening of baseline thrombocytopenia without improvement with corticosteroid or platelet transfusions. Due to inability to maintain a safe platelet level, therapy with a thrombopoietin receptor agonist (Eltrombopag), previously used in patients with refractory immune thrombocytopenia, was started with good response. As this report shows, pregnancy with good perinatal outcome in patients with FA is possible with appropriate multidisciplinary follow-up.

Keywords : Fanconi anemia; Pregnancy; Thrombocytopenia; Thrombopoietin receptor agonist.

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