2023-05-31 11:00:10
Royal Commission Hospital
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.
During an ultrasound examination of the fetus by the medical team, it was found that there were deficiencies in the bones of the rib cage and the limbs, which necessitated a sample of amniotic fluid to study the genetic sequence of the fetus and send it to an international laboratory. The results were that it had a rare genetic condition called skeletal dysplasia due to the transient genetic mutation Receptor Potential Vanilloid 6 (TRPV6)).
The maternity and fetal medicine consultant, Dr. Samir bin Omar, at the Royal Commission Hospital in Jubail, said that the lack of early detection and treatment of such a condition immediately after birth leads to death, indicating that medical care was provided to the child for a period of two months, accurately and continuously, in the intensive care department, under the supervision of a consultant. neonatal intensive care, Dr. Abdullah Al-Shahrani, as well as the supervision of a pediatric endocrinologist, Dr. Majed Al-Habib; 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, so that this rare achievement joins the list of cases diagnosed with the same disease in the world .
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