Abstract
We report on a 34-year-old woman with advanced FA who achieved a successful pregnancy. The neurological and cardiological features of the disease remained unchanged during and after pregnancy. Because of a slight respiratory impairment, which appeared at the 6th month, cesarean section was performed at the 34th week. FA is not necessarily a bar to successful pregnancy, but early referral to a cardiologist and respiratory monitoring is mandatory. The risk of transmission of the disease for our couple was 1/95.5 compared with 1/36.000 for a non-affected couple.
Sommario
Descriviamo il caso di una donna di 34 anni affetta da Atassia di Friedreich che ha condotto con successo una gravidanza. La sintomatologia neurologica e cardiologica non ha subito variazioni nel corso della gravidanza, mentre un modesto deficit respiratorio ha condotto a terminare la gravidanza con taglio cesareo alla 34.ma settimana.
Con il supporto di uno stretto monitoraggio cardiaco e respiratorio, l'Atassia di Friedreich non è necessariamente una controindicazione alla gravidanza.
Il rischio di trasmissione della malattia per la nostra coppia era di 1/95.5 contro 1/36.000 per una coppia di non affetti.
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Leone, M., Bottacchi, E., Bussolino, S. et al. A case of successful pregnancy in a woman with Friedreich ataxia. Ital J Neuro Sci 13, 439–441 (1992). https://doi.org/10.1007/BF02312152
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DOI: https://doi.org/10.1007/BF02312152