The laboratory where free SMA screening for couples is conducted was introduced to the press

The study, which began at the General Department of Public Health’s Genetic Disease Screening Laboratory, was introduced to the press by specialist doctors.

Providing information about the laboratory where spinal muscular atrophy (SMA) screening was performed on blood samples taken from couples and how the program works, according to the Medical Genetics Specialists Association. Dr. Taha Betting says that SMA is a progressive and deadly disease that affects the neuromuscular system.

They will screen for a mutation in the SMN gene, called type 1 and harm patients at a very young age. In the screening program, Bahsi explained how the screening program works:

“First, couples applying to a family health center for marriage will receive a tube of blood from men. These will be delivered to a genetic screening laboratory set up under the General Directorate of Public Health, where we are today. DNA samples will be obtained from the blood.” And we will study the screening tests as a real-time PCR method. “The results will be reported after the analysis. The results will be entered into the system in a very short time Time and family physicians will be able to see them. Physicians will inform couples who apply to them about this. If a man is found to be a carrier, his wife will also be included in the screening program. “

Genetically selected in vitro fertilization opportunities will be explained to couples who are both carriers of SMA.

Medical Genetic Specialists Association. Dr. On the other hand, Ahmed Sevdet Silan said that the same procedure would be applied to the wife of a male person who would prove to be a carrier of SMA. Later, genetically selected IVF opportunities will be explained to these families. “

Noting that the state pays for genetic in vitro fertilization treatment, Ceylon said couples, who are both carriers of SMA, can have healthy children in this way.

Ahmet Cevdet Ceylan added that in case of an unexpected pregnancy and if the couple wishes, SMA can be diagnosed with the possibility of prenatal diagnosis.

When asked why blood was first taken from men, Ceylon noted that it had nothing to do with gender and said that it was decided to take samples from men first because the male screening program was simple and for social reasons.

Explaining that both spouses must be carriers for the birth of a child with SMA, Ceylon said that they do not expect a 95 percent chance of having a child with SMA if only one wife is not a carrier.

“We’re screening the most common mutations in this laboratory with about 95 percent accuracy. So, we’re screening with 95 percent confidence,” Silan said. He said.

Assoc. Dr. Ahmed Sevdet Ceylan gave the following answer:

“Normally, after we have already given all the genetic counseling and testing advice, our families sign the consent form. If the families refuse after signing the consent form, it is their own business. However, after giving detailed genetic counseling and the procedure is explained. There is no reason to do that and I don’t think they will. “

Every day 3 to 3 thousand 500 blood samples will be scanned

Assoc. Dr. Regarding the number of babies born with SMA per year and the goal of this screening program, Taha Bahsi said that they do not know the number of SMA diseases in Turkey and this was the case in many countries of the world. .

Noting that the carrier frequency of SMA varies around 1 / 50-1 / 60 and the frequency of the disease is estimated to be 1/2500 live births, Bahsi said they expect higher rates in societies like Turkey, where consistent marriages are common, literary data In comparison.

He also gave information about the capacity of the laboratory. “The capacity of the laboratory was planned according to the number of marriages. The number of annual marriages in our country is about 600,000. The capacity of the laboratory was planned to run 3,3,500 samples per day. The following is a list of our most popular pages. Used expressions.

Married couples can also benefit from it for free.

Asked to cover the cost of in vitro fertilization within the scope of application, Ceylon said that the Social Security Institution had issued a circular about 3 months ago and according to the circular, he would pay the cost of in vitro fertilization for 40 diseases. SMA.

“Not only before marriage, families who are married and have children or are planning to have children can also apply at the Family Health Center. Similarly, samples from men will be taken free of charge and brought here and we will do it. They can be diagnosed and treated in the same way. Opportunities will be provided. ” Says

Assoc. Dr. Ahmed Sevdet Silan says SMA screening for newborns will start in a few months and says:

“Research on this has been completed, it will be announced soon. Such a serious study has been started so that not only before marriage, but also during the neonatal period, the disease may benefit from treatment opportunities before it damages the nerves. This is very important for the medical genetics community and health community.” It’s important. It’s a development. Because for the first time, a genetic disease has started to be tested through genetic testing. We will be able to do what very few countries in the world can do. Here. “

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