Patient's question:
The first child was suspected by the doctor of having a hereditary metabolic disease, but before they could take a blood sample, the child passed away. I am now pregnant again. Can amniocentesis be used to screen for hereditary metabolic diseases?Doctor's answer:
It is necessary to identify the type of genetic metabolic disease and locate the corresponding pathogenic gene to perform prenatal diagnosis. We know that genetic metabolic diseases in children can cause significant harm. If left untreated or if the treatment is not appropriate, the disease progresses rapidly, posing great harm to the patient. Therefore, it is essential to seek professional medical treatment promptly and receive standardized care, which is the key to managing this condition.