Reminding that genetic diseases occur as a result of a problem in the genes that a person has from birth, Medical Genetics Specialist Assoc. Dr. Ayşegül Kuşkucu gave important information on the subject. Assoc. Dr. Ayşegül Kuşkucu said, “These are diseases that can cause physical problems as well as mental and cognitive impairments and unfortunately cannot be treated. For this reason, it is important to prevent the occurrence of genetic diseases and to determine whether there is a genetic disease before the baby is born.

We have two methods that we can use to ensure that healthy children are born. The first of these is genetic tests that can be done while the baby is in the womb. With a sample taken from the mother’s blood while the pregnancy continues, it can be determined whether chromosomal diseases such as Down Syndrome that may occur accidentally or whether a genetic disease known in the family is passed on to the child by taking fluid in the womb. In cases where the mother or father is a carrier, it is possible to bring healthy children to the world with the selection of healthy embryos, which is another method.


Underlining that genetic diseases can be prevented before the baby is born, Assoc. Dr. Ayşegül Kuşkucu said, “First of all, it is necessary to determine what the disease is, which gene is defective, and how the mother and father carry it. In order to determine the disease, we either make the necessary examinations by taking fluid from the mother’s womb during the period when the pregnancy continues, or it is possible to ensure that the baby is born in a healthy way by selecting a healthy embryo before pregnancy occurs, ”he said.


Stating that it would be beneficial for couples who suspect genetic diseases to meet with a medical genetic specialist before pregnancy, Assoc. Dr. Ayşegül Kuşkucu continued her words as follows:

“In some cases, couples may not be carriers, although there is a genetic disease in the family. We can only detect this after investigations. Consanguineous marriages, which are very important for our country, pose a risk in terms of genetic diseases. Therefore, it is beneficial for these couples to receive genetic counseling service against the risk of developing genetic diseases after consanguineous marriages. By talking about these risks with couples and providing information on the most accurate methods, we can increase their chances of having healthy children. At this point, in vitro fertilization treatments are mostly used. “


As Prof. across the world, Turkey also reminiscent of some genetic diseases occur by chance. Dr. Ayşegül Kuşkucu gave the following information:

“At this point, there are no situations such as the carrier of the parents or consanguineous marriage. Independently of these, we are talking about the occurrence of diseases by chance. For example Down syndrome. Although it is stated that advanced maternal age is a factor in this, it is possible that the baby of a 25-26 year old mother will be born with Down syndrome. However, thanks to the developing technology, screening tests can now be performed in such accidental diseases. Only a sample of maternal blood is taken and free baby DNA transferred into maternal blood is analyzed. In this way, it can be detected with 90 to 99 percent accuracy whether the baby has Down syndrome or other chromosomal abnormalities without any invasive procedure. In non-invasive genetic screenings, this examination can be performed with a blood sample given at any week after the 10th week of pregnancy. “

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