“Rare Genetic Disease Diagnosed in Fetus at Sixth Month of Pregnancy in Jubail”

The medical team at the Royal Commission Health Services in Jubail was able to diagnose a rare genetic disease in a fetus in the sixth month of pregnancy.

An ultrasound examination of the fetus showed deficiencies in the bones of the rib cage and limbs. Which necessitated conducting a sample of the amniotic fluid to study the genetic sequence of the fetus and send it to an international laboratory. The results revealed that it suffers from a rare genetic condition called skeletal dysplasia due to the genetic mutation Transient Receptor Potential Vanilloid 6 (TRPV6).

Dr. Samir bin Omar, a consultant maternity and fetal medicine at the Royal Commission Hospital in Jubail, explained that failure to detect and treat early such a situation immediately after birth leads to death, pointing out that medical care was provided to the child for two months accurately and continuously in the intensive care unit for preterm infants after he was given the appropriate treatment. For his condition, the child is still being monitored periodically at specialized clinics and is in good health.

It is noteworthy that this case is considered the only case in the world that is diagnosed before birth, as most cases in the world are diagnosed after birth, and the number of cases discovered with this disease in the world until this year reached only 12 cases, to join this rare achievement to the list of cases diagnosed with the same disease on world level.