What are the treatments for spinal muscular atrophy

There is currently no specific treatment for spinal muscular atrophy, but to prevent this disease, genetic testing can be done during pregnancy to avoid carrying the pathogenic gene. Everyone can learn more about it.

Treatment and prognosis

There is no specific treatment for SMA yet, but prenatal genetic diagnosis can prevent the birth of a fetus carrying the disease-causing gene. The prerequisite for prenatal genetic diagnosis is that the diagnosis of the proband and carriers in the family must be clear. The samples for prenatal genetic diagnosis can be obtained from early pregnancy chorionic villi, mid-pregnancy amniotic fluid cells or fetal umbilical cord blood. The fetal DNA is extracted and then subjected to genetic linkage analysis (PCR-SSCP or PCR-RFLP). According to the different diagnosis period, prenatal diagnosis is divided into the following three types:

(1) Early pregnancy: The best time is 7 to 9 weeks of pregnancy. Chorionic villus sampling (CVS) is used. The DNA extracted from the villi is large in quantity and high in purity, making it easy to obtain satisfactory results. However, CVS operation must be gentle and skillful, otherwise it may easily cause miscarriage or fetal malformation.

(2) Mid-pregnancy: Fetal umbilical cord blood is drawn between 18 and 24 weeks of pregnancy. It is difficult and risky. The best time to extract amniotic fluid cells is between 16 and 20 weeks of pregnancy, which is relatively safe.

(3) Preimplantation diagnosis. Combining in vitro fertilization technology and embryo single-cell puncture technology, micromanipulation is applied when the embryo develops to 8 to 10 cells to perform genetic or DNA analysis on single cells. If the fetus has a homozygous deletion of exon 7 of the SMA gene and the parents are normal, the fetus is predicted to be ill and the pregnancy should be terminated.