Diagnostic testing of patients with Spinal Muscle Atrophy (SMA) has been available for years. However, for this purpose, underlining that the pediatrician should make the preliminary diagnosis of SMA in the baby, the Medical Genetics Specialist from Yeditepe University Genetic Disorders Assessment Center Assoc. Prof. Dr. Ayşegül Kuşkucu said, "SMA has suspected if the baby has symptoms such as muscle weakness, inactivity, and laxity. After the pre-diagnosis, the mutation in the SMN (Survival Motor Neuron) gene that causes SMA disease is referred to medical genetics specialists for examination. However, if couples are screened with the SMA test to be performed before they have a baby and it is determined that they are carriers, it is possible for them to have healthy children with the methods and tests to be planned together by medical genetics specialists."
Frequency of Consanguineous Marriages in Turkey Increases SMA Rates
SMA is a disease that occurs in 1 in 10,000 births in the world and 1 in 6,000 births in Turkey. It is estimated that there are approximately 3,000 patients with SMA in Turkey. In infants evaluated by pediatric neurologists, the definitive diagnosis is made as a result of the genetic test after the clinical findings and EMG test findings. More than 95 percent of SMA patients have mutations in different genes, including NAIP, while the remaining 5 percent have mutations in the SMNt gene.
According to the information given by Yeditepe University Genetic Disorders Assessment Center, Medical Genetics Specialist Assoc. Prof. Dr. Ayşegül Kuşkucu, since the rate of consanguineous marriage, is high in Turkey, more babies with SMA are seen than anywhere else in the world. About the connection between SMA and consanguineous marriage, she said:
"SMA is a recessive genetic disease. In order for the disease to occur, both the mother and father must be carriers of the disease. Parents who are carriers are not sick, but the child may have SMA when the mutant gene they are carrying is passed on to the child. A situation in which both parents are carriers is usually seen in consanguineous marriages. Because relatives have more common genes, it is more common for people with a faulty gene in a family to develop a recessive disease such as SMA after marriage. If the mother and father are carriers for SMA, there is a 25% chance that all the children to be born will have SMA. This means that the surrogate parents may be healthy or have healthy surrogate children like themselves."
SMA Can Be Diagnosed in the Mother's Womb
Stating that if it is known that the parents are carriers of SMA disease, the presence of SMA in the baby can be determined by genetic tests that can be performed during pregnancy, Assoc. Prof. Dr. Ayşegül Kuşkucu said,
"If it is determined that the mother and father candidates who have a family history of SMA or who have a consanguineous marriage are carriers with blood tests, we can find out whether they have SMA disease without touching the baby with cord villus biopsy at the 10th week of pregnancy or amniocentesis after the 16th week of pregnancy".
IVF Treatment Can Be Effective in the Sma Disease
Emphasizing that parents with SMA carriers can have healthy babies with IVF treatment, Yeditepe University Hospitals Medical Genetics Specialist Assoc. Prof. Dr. Ayşegül Kuşkucu continued as follows: "Thus, we break the SMA cycle in the family and allow healthy children to be born in future generations. Children do not have to carry the same disease as their parents. Genetic diseases may not be inherited by the baby to be born. Prospective parents, who are known to be genetic diseases or carriers of diseases, can give birth to healthy babies with IVF treatment."
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