Generations with SMA Can Be Broken with Victimization Screening Tests

Diagnostic testing of Spnal Muscular Atrophy (SMA) patients has been performed for years. Underlining that for this, the pediatrician should make a pre-diagnosis of SMA in the baby, Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu said, “SMA is suspected if there are findings such as muscle weakness, inactivity and looseness in the baby. After the pre-diagnosis, the mutation in the SMN (Survival Motor Neuron) gene that causes SMA disease is referred to medical geneticists for examination. However, if couples are screened with the SMA test 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 they will plan together by medical geneticists. " he spoke.


SMA, 10 in every 1 thousand births in the world, a disease that is seen in 6 out of 1 thousand births in Turkey. SMA is about 3 thousand in Turkey is estimated to be patient. After clinical findings and EMG test findings in babies evaluated by pediatric neurologists, the final diagnosis is made by genetic testing. More than 95 percent of SMA patients have mutations in different genes such as NAIP in the remaining 5 percent of the SMNt gene.

Yeditepe University Genetic Diseases Assessment Center, Medical Genetics Specialist Assoc. Dr. Aysegul according to information given by the skeptics, SMA baby is seen in more than the global rate for the consanguinity rate than in Turkey. He explained the link between SMA and consanguineous marriage:

“SMA is a recessive inherited (recessive) disease. For the disease to occur, both mother and father must be carriers of the disease. Carrier parents are not sick, but when the mutant gene they carry is passed on to the child, the child may have SMA. Situations in which both mother and father are carriers are usually seen in consanguineous marriages. Because relatives have more common genes, therefore, the emergence of recessive diseases such as SMA after the marriage of people with a faulty gene in a family is more common. If the mother and father are carriers for SMA, the probability of all their children to be born with SMA is 25%. This means that surrogate parents may have healthy or healthy and surrogate children like themselves "


Pointing out 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. Dr. Ayşegül Kuşkucu:

"If it is determined that the mother and father candidates who have a family history of SMA or have consanguineous marriage are carriers, we can learn whether there is SMA disease without touching the baby with cord villus biopsy at the 10th week of pregnancy or amniocentesis after the 16th week," he said.


Emphasizing that parents who are SMA carriers can have healthy babies with IVF treatment, Yeditepe University Hospitals Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu continued her words as follows: “Thus, by breaking the SMA cycle in the family, we enable healthy children to be born in future generations. Children do not have the same disease as their parents. Genetic diseases may not be inherited to the baby. "It is possible for prospective parents, who are known to be carriers of genetic diseases or diseases, to give birth to healthy babies with IVF treatment."

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