Genetic Diseases Can Be Detected by a Blood Test in the Womb

Stating that genetic diseases can be prevented before the baby is born, Medical Genetics Specialist Assoc. Prof. Dr. Ayşegül Kuşkucu "There are genetic diseases that can occur by chance, such as Down syndrome. For these diseases, only a sample of maternal blood can be taken, and the baby's Down syndrome or other chromosomal abnormalities can be detected with 90 to 99 percent accuracy."

Reminding that genetic diseases occur as a result of a problem in the genes of the person from birth, Yeditepe University Genetic Disorders Assessment Center Medical Genetics Specialist Assoc. Prof. Dr. Ayşegül Kuşkucu provided important information on the subject. Assoc. Prof. Dr. Ayşegül Kuşkucu said, "These are diseases that can cause physical problems, as well as mental and cognitive functions, and unfortunately, cannot be cured. Therefore, it is important to prevent the development 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 the birth of healthy children. The first of these is the genetic tests that can be performed while the baby is in the womb. It can be determined whether chromosomal diseases such as Down Syndrome, which may occur by chance with an example taken from the maternal blood while the pregnancy is continuing, or whether a genetic disease known in the family is passed to the child by taking fluid in the uterus. In cases where the mother or father is a carrier, it is possible to bring healthy children to the world by choosing healthy embryos, which is another method."

"Healthy Embryo Selected with IVF Method"

Underlining that genetic diseases can be prevented before the baby is born, Assoc. Prof. Dr. Ayşegül Kuşkucu said, "First of all, it is necessary to determine what the disease is, which gene is the disorder, and how the parents carry it. In order to determine the disease, we either take fluid from the womb during pregnancy or make the necessary examinations. Or it can be ensured that the baby is born healthy by choosing a healthy embryo with the in vitro fertilization method before pregnancy occurs."

"Attention! Couples with Suspected Genetic Diseases!"

Stating that it would be beneficial for couples who suspect genetic disease to meet with a medical genetics specialist before pregnancy, Assoc. Prof. Dr. Ayşegül Kuşkucu continued as follows: "In some cases, although there is a genetic disease in the family, the incoming couples may not be carriers. We can only detect this after the examinations are made. Relative marriages, which are extremely important for our country, pose a risk in terms of genetic diseases. Therefore, it is beneficial for these couples to receive genetic counseling services against the risk of developing genetic diseases after consanguineous marriages. By discussing these risks with couples and providing information about the most appropriate methods, we can increase their chances of having a healthy child. At this point, IVF treatments are mostly used."

"Baby DNA Can Be Examined from Mother's Blood"

Reminding that some of the genetic diseases emerged by chance in Turkey as in the world, Assoc. Prof. Dr. Ayşegül Kuşkucu gave the following information: "There are no situations such as carriage of parents or consanguineous marriage at this point. These are independent, we are talking about the accidental occurrence of diseases. For example, Down syndrome. Although it is stated that advanced maternal age is a factor, there is a possibility that a 25–26-year-old mother's baby will also be born with Down syndrome. However, thanks to developing technology, screening tests can now be performed for such diseases that can be seen by chance. Only a sample of maternal blood is taken, and the DNA of the free infant transferred to the maternal blood is examined. In this way, it can be determined with 90 to 99 percent accuracy whether the baby has Down syndrome or other chromosomal abnormalities without any interventional procedures. In non-invasive genetic screenings, this examination can be carried out with a blood sample given any week after the 10th week of pregnancy."