Baby with Deadly Genetic Disease Treated in Womb

Baby with Deadly Genetic Disease Treated in Womb

Canadian medical professionals have treated an unborn baby with the world's rare and deadly Pompe genetic disease. This treatment, which entered the medical literature, was published in the New England Journal of Medicine.

A team of doctors at Children's Hospital of Eastern Ontario and Ottawa Hospital in Ottawa, Canada, diagnosed the mother's baby, named Sobia Bashir, with Pompe disease in prenatal tests in 2021.

The Beşir couple, who previously lost both of their children due to the same genetic disease, accepted the doctors' offer of experimental treatment for their 16-month-old baby Ayla in the womb.

Doctors gave Ayla's mother six infusions between weeks 24 and 37 of pregnancy to give the Pompe patients the missing enzyme. The enzyme deficient in the baby was injected into the fetal umbilical cord vein using ultrasound-guided needles. Ayla, who received prenatal enzyme replacement therapy at Ottawa Hospital, was born on June 22, 2021. Tests conducted in Ayla showed that her heart and muscle development was normal.

The treatment, which entered the world medical literature, was also featured in the latest issue of the "New England Journal of Medicine".

Treatment in Medical Literature

While the treatment given to baby Ayla was recorded in the world medical literature as "the first baby treated in the womb due to a genetic disease", the case was also recorded as "the world's first intrauterine treatment".

Pompe disease, which is seen in one of every 100,000 babies in the world, usually causes heart enlargement and muscle weakness in infants and causes death..

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