First birth in the world of a woman with Alstrom syndrome

A 26-year-old suffering from Alström syndrome, a multisystem disease that also leads to infertility, gave birth at the Sant'Anna hospital of the City of Health in Turin.

According to the health professionals who assisted the woman by announcing the birth on the eve of World Day of Rare Diseases, this is the first case in the world of pregnancy in a woman suffering from the rare genetic disease, of which up to a global level has been described up to now only 450 cases and in the scientific literature no pregnancies have ever been reported.

Mom and baby are fine.

    The pregnancy had a regular course up to the eighth month, when signs of slight deterioration of the maternal cardiovascular and renal functions suggested early delivery by caesarean section.

    The mother and the newborn, a 1,950 gram boy, currently hospitalized at the University Neonatology Department, directed by Enrico Bertino, are both in good condition.

    There is no specific therapy for Alström syndrome, but early diagnosis and intervention can improve the quality of life of those affected.

The patient was assisted throughout her gestation at the outpatient clinics for high-risk pregnancies belonging to the Division directed by Professor Chiara Benedetto, in multidisciplinary collaboration with the internist colleagues of Sant'Anna, coordinated by Aldo Maina, and the Clinical Genetics Service of the City of Health of Turin directed by Barbara Pasini.