Today marks China's 18th Birth Defect Prevention Day. An early intervention for some birth defect diseases could change the life of patients. A newly developed Neonatal Screening after delivery has become increasingly important in early diagnosis and treatment. Reporter Lu Sirui has more.
It's this baby's third day in the world. He's now having blood samples collected to test for birth defect diseases. The government subsidizes the screening of 12 types of birth defects. But this baby's parents have chosen a new genetic test, the Newborn Screening with Targeted Sequencing, that covers more.
HAN LU New Mother "We will know the screening result in a month. The new test allows screening of more than 200 kinds of diseases. The test costs more, but we think it is worth it for the health of my child."
Experts say China has a high rate of birth defects, around 5.6%. Doctors say the baby's genetic information will help establish biologically healthier families in the future, or help parents make better decisions about having children.
XIE LIMIN Vice Director, Dept. of Genetics and Reproductive Medicine, Beijing Children's Hospital "The test can be done on the parents even before pregnancy. If parents know more about themselves, they may be able to avoid carrying babies with serious birth defects."
The traditional Neonatal Screening was based on the volumes of metabolites, such as amino acids, fatty acids and organic acids in blood samples. But it only allowed certain targeted diseases to be tested individually. Some diseases are invisible to the eye, such as glaucoma and congenital deafness.
The goal of the new plan is to detect as many relevant defects as possible at the same time before their syndrome develops.
LI WEI Vice President, Beijing Children's Hospital, Capital Medical University "We use high-throughput sequencing technology to develop a targeted gene panel for newborn screening of monogenic diseases in the Chinese population, which is beneficial to early prevention, diagnosis and intervention of birth defects."
The doctors are working hard to promote this new plan across China. Doctors say the package of targeted diseases could be customized according to factors like demographics and region. Lu Sirui, CGTN, Beijing.