1. What is genetic testing for newborns?
Genetic testing can reveal the body's inherent health information. For newborns and children, genetic testing can understand the baby's genetic health as early as possible. Even if there is a risk of disease, timely intervention can be taken to achieve accurate tertiary prevention.
2. My baby has been screened for common neonatal diseases after birth. Is it necessary to do this genetic test?
Newborn screening in China is still at a very preliminary stage, usually only covering 2-5 genetic diseases, and 26-48 species in individual areas. The methods used are traditional enzyme reaction and tandem mass spectrometry. These two detection technologies can only detect the symptoms and manifestations of the disease, and may be affected by external factors such as individual health and diet, and may cause missed detection or delayed detection. Genetic testing is aimed at detecting the cause of genetic diseases, which can be found in advance and achieve the purpose of timely prevention and control.