SMA is one of the most common genetic diseases in the world and in our country. This disease, which causes muscle weakness as a result of the inability of the nerves to control the muscles, is seen in newborns or infants who are not yet old. Even if its treatment is possible, since it is seen as hereditary, it can be seen whether there is a risk with the SMA test before marriage or in married couples.
The results of the SMA test are a report that should be taken seriously, because if both women and men have the gene with a genetic mutation, the risk of the child to be born with SMA is quite high. For this reason, the results of this test are requested in the health report obtained before marriage within the scope of the program carried out by the Ministry of Health. Let’s examine in all details the questions such as what is the SMA test, how is it done and what happens if it is positive.
First of all, what is SMA?
Spinal Muscular Atrophy, abbreviated as SMA, is an inherited genetic disease. In its simplest definition, SMA is a disease that causes muscle weakness as a result of loss of nerves controlling the muscles. According to the figures announced by the World Health Organization, 1 out of every 30 people is a carrier, and 1 out of every 10 thousand people is a SMA patient.
There are four different forms of SMA, types 0,1,2 and 3. Type 0 is the most severe and symptoms such as muscle weakness and respiratory problems begin with birth. Type 1 symptoms appear as feeding difficulties and respiratory problems in the first 6 months. Type 2 SMA symptoms appear between 6 months and 18 months and the patient cannot walk even if he sits. Type 3, on the other hand, is the mildest form of this disease and does not affect walking even if it is seen at an early age, but muscle use skills such as climbing stairs may be a problem in the future.
SMA is a treatable disease, but since it is an inherited genetic disease, the first target is to test whether the parents are carriers. According to the test results, if both of the couple are found to be carriers of SMA, the risk of the child being sick is high. The cause of SMA disease is a mutation in a gene called SMN1.
What is the SMA test that measures disease risk?
The SMA test, also known as SMA screening, is a test performed within the scope of the Premarital Spinal Muscular Atrophy (SMA) Carrier Screening Program conducted by the Ministry of Health and applied to couples who want to have children. This test, which should be included in the health report requested before marriage, can also be applied to married couples who do not have children but want to have one.
With the SMA test, it is determined whether the couple is genetically carrier of SMA. Because the risk of a child of a couple who are both SMA carriers increases by 25 percent and the risk of being a carrier of SMA increases by 50 percent. According to the data of the Ministry of Health, there are 3 thousand SMA patients followed in our country and an average of 150 new SMA patients are born every year. The purpose of the SMA testing program is to prevent this number from increasing.
So how is the SMA test done?
Couples who want to get married or are married and want to have children can have an SMA test by applying to the family physicians in the nearest Family Health Center, that is, the health center. The SMA test is performed on a simple blood sample taken from the arm. However, if the SMA test is to be performed during pregnancy, it should be performed by taking a DNA sample from the amniotic fluid taken from the fetus.
The SMA test, which will be applied to couples before or during marriage, is first performed by taking blood from the man. If no SMA carrier has been encountered in the man, the woman is not tested because only one of the couples is a carrier and does not pose a risk. However, if the carrier gene is detected in the male, the SMA test is also applied to the female.
Testing is not required under the Premarital Spinal Muscular Atrophy (SMA) Carrier Screening Program if the woman has passed her fertile period. If the SMA test has been performed before for marriage or for another reason, retesting is not required. In special cases, both couples may need to be tested, or different tests may be done.
What if the SMA test is positive?
If the result of the SMA test performed before marriage or in married couples is positive, that is, if both of the couple are carriers of SMA, free IVF treatment is offered. Çam and Sakura City Hospital IVF Center Responsible Assoc. Dr. İbrahim Polat’s statement on the subject includes the following sentences;
“With in vitro fertilization, the embryo will be genetically screened with the method we call preimplantation genetic diagnosis. Embryos with SMA will not be transplanted to the expectant mother, but intact embryos will be separated. “We collect these eggs with a small operation. After obtaining healthy embryos, we transfer them back to the mother-to-be. The only risk here is that she undergoes an operation, albeit a very small one, she receives anesthesia. Other than that, there is no big risk for the mother.”
Who is the SMA test for, how much does it cost?
Within the scope of the Premarital Spinal Muscular Atrophy (SMA) Carrier Screening Program, married couples who want to have SMA test or married couples who do not have children can apply to the family physicians in the nearest Family Health Center, that is, the health center, and have the SMA test done. SMA tests performed in Family Health Centers are free, but SMA tests performed in private health institutions may be charged at different rates by the institution.
We talked about the details you need to know about the subject by answering questions such as what is the SMA test for couples who want to get married or who are married but do not have children, how it is done, what happens if it is positive. What we describe is for informational purposes only. You can get the most accurate information about the SMA test from Family Health Centers.
5275
