Sanxiang***, December 27 (Quan** reporter Li Qi, correspondent Liu Qin) Spinal muscular atrophy (SMA), a rare disease, is known as the number one killer of genetic diseases in children under 2 years old, and there is one pathogenic gene carrier in 40-50 people. The reporter learned from the Hunan Provincial Maternal and Child Health Hospital today that the hospital's Department of Medical Genetics is participating in the comprehensive prevention and control project of spinal muscular atrophy (SMA) birth defects organized by the China Maternal and Child Health Association, and provides free SMA genetic screening to 1,600 women of childbearing age who meet the conditions (preparing for pregnancy, first trimester before 14 weeks of pregnancy, having given birth to a child with SMA, and having a family history of SMA).
SMA is known as the number one genetic disease killer in children under 2 years old, it is an autosomal recessive genetic disease due to the degeneration and death of spinal motor neurons, children will have muscle weakness, muscle atrophy, feeding difficulties, unable to erect their heads and other symptoms, generally in the first 6 months after birth, and continue to deteriorate with age, the body gradually loses various motor functions, and even unable to breathe and swallow, severe children will die of respiratory failure before the age of 2.
SMA is an autosomal recessive disorder that does not occur in carriers but may be passed on to the next generation. If both spouses are carriers of the disease-causing gene for SMA, there is a 25% chance of having a child with SMA in each pregnancy, a 50% chance of having a carrier of SMA, and a 25% chance of having a normal childIn addition, if a pregnant woman is pregnant with a fetus with SMA, it cannot be detected by routine prenatal check-ups (such as ultrasound).
Fortunately, conditions such as SMA can be screened for during the pregnancy period or the first trimester through genetic screening. Peng Ying, director of the Department of Medical Genetics of Hunan Provincial Maternal and Child Health Hospital, said that not only SMA, but also many genetic defective diseases can be screened, so pre-pregnancy and prenatal genetic screening is very important.
It is understood that the Department of Medical Genetics of Hunan Provincial Maternal and Child Health Hospital is participating in the SMA birth defect comprehensive prevention and control project organized by the China Maternal and Child Health Association, providing free SMA genetic screening to 1,600 eligible women of childbearing age. People who are preparing for pregnancy, people in the first trimester (before 14 weeks of pregnancy), people who have given birth to children with SMA, and people with a family history of SMA can choose the Department of Medical Genetics - Genetic Eugenics Consultation Clinic through the Hunan Provincial Maternal and Child Health Hospital's Pocket Maternal and Child Health App**, inform the doctor that they want to participate in the SMA prevention and control project, register and fill in the relevant information, and draw 2 ml to 3 ml of peripheral blood.