Question
I had a first child who was suspected of having a genetic metabolic disease and died before a blood sample was taken. Now I am pregnant again and want to know if it’s possible to perform amniocentesis to screen for genetic metabolic diseases.
Answer
Before conducting prenatal diagnosis of genetic metabolic diseases, it is necessary to first determine the disease type and locate the corresponding causative genes. If pediatric genetic metabolic diseases are not treated promptly and correctly, the condition can progress rapidly, causing severe harm to the patient, so it is recommended to seek immediate treatment at a professional medical institution.