‘Real hope’: Preborn baby girl cured of rare genetic disorder through prenatal treatment

For the first time, physicians have successfully cured a child of a rare disorder known as type 1 spinal muscular atrophy (SMA) by beginning treatment while she was still in the womb. 

In a new study, physicians have documented how a preborn child was treated for SMA through her mother taking the medication while still pregnant, rather than waiting for the child to be born to administer treatment. The report details how the child absorbed the medication through her mother’s umbilical cord and amniotic fluid. 

Now, after two and a half years outside the womb, the child has shown no signs of having SMA, leading pediatric neurologist Michelle Farrar to determine that she has been “effectively treated, with no manifestations of the condition.”

A Never Before Seen Look At Human Life In The Womb | Baby Olivia

Type 1 SMA is a form of neuromuscular disorder characterized in infants by lack of head control, decreased muscle tone, and difficulty breathing and swallowing. SMA typically manifests in children by the age of six months and ultimately results in death by age two. 

Notably, the potential to heal SMA in the womb may save many lives from being discarded as embryos through the in vitro fertilization (IVF) process. Parents at risk of passing along the gene that causes SMA are often encouraged to pursue parenthood through IVF rather than natural means in order to pre-screen embryos for the disorder. Parents are then encouraged to implant “healthy” embryos and abandon those found to carry the SMA gene.

SMA is not the first serious condition to be successfully treated through prenatal care. According to the Charlotte Lozier Institute, fetal surgery has also proven highly effective at treating conditions such as spina bifida, twin-to-twin transfusion syndrome, and severe kidney and bladder obstructions.

“Amidst the pain and despair of receiving a fetal diagnosis, fetal therapy and surgical interventions provide real hope to parents,” reads a section on fetal surgery from the resource. “It is now possible for fetuses with previously life-limiting or life-threatening diagnoses to not only survive to birth, but also to experience marked increases in quality of life and lifespan.”