Health

Pregnancy Genetic Tests

What are Pregnancy Genetic Tests? Assoc. Dr. Gülay Ceylaner gave information about genetic tests that should be done before pregnancy.

What are Pregnancy Genetic Tests? Assoc. Dr. Gülay Ceylaner gave information about genetic tests that should be done before pregnancy.

Stating that if there is a chronic or genetic disease in the family or if the spouses are relatives, a genetic center should definitely be contacted. Ceylaner said, “If you do not have children, you should contact the genetics center before starting the treatment. The practice we call medicine begins with diagnosis. The most valuable thing in medicine is to be undiagnosed.

What are Pregnancy Genetic Tests?

Stating that today, information about IVF is widely distributed and most of the families think that having a baby with IVF is a healthier practice than having a normal baby, Rare Disease Volunteers Association Leader Assoc. Dr. Gulay Ceylaner , “No artificial application can replace the natural one. However, it should be used only when necessary. In vitro fertilization should be used either in cases where it is not possible to get pregnant in other ways or when there are valuable problems before the couple who can get pregnant have a healthy child. When the process called Preimplantation genetic diagnosis or PGD is applied in the IVF process, your risk is significantly reduced and it will likely result in normal tests during pregnancy. This will allow you to spend the rest of the pregnancy comfortably.”

What is the PGT Process?

Giving information about the preimplantation genetic diagnosis (PGD) process, Ceylaner continued his words as follows: “PGD is the process of performing genetic testing on biopsies taken from very early period babies, which we call embryos created by taking eggs from the mother and sperm from the father during in vitro fertilization. There is no need to do this process in every IVF trial. The most valuable reasons for performing these processes are the fact that the family has a sick child in previous pregnancies and there is a risk of recurrence or the spouses are known to be carriers for a disease. In other words, first of all, a geneticist should evaluate whether the person’s new pregnancies are also a risk. The patient should definitely apply to the genetic center before pregnancy in those who do not have children but have consanguineous marriages. If they want, those who do not marry relatives can have extensive screening tests before pregnancy. If the risk of a sick child is determined in the evaluations, the full name of the disease must be given first, the cause of the disease must be determined by genetic tests, and this must be a testable disease in embryos.

Testing During Pregnancy Has Two Meanings

Ceylaner said, “Due to the point at which today’s technology has come, if you diagnose a genetic disease, this type of application can be made in the majority,” said Ceylaner. In general, the tendency can be said that the risk of death from the disease is high or that it significantly limits the quality of life. In other words, if a disease significantly restricts a person’s quality of life or shortens his life, these diseases are suitable for healthy embryo selection processes with in vitro fertilization, provided that their genetic characteristics can be determined. These processes do not reduce the risk of recurrence of the family in subsequent pregnancies to zero, but they reduce it significantly. For example, it reduces a disease that has a 25% risk of recurrence in your next pregnancy to a recurrence risk of less than 1%. The other meaning of this is that even if you reduce your risk with IVF, it will be useful to have a test during pregnancy. Testing during pregnancy has two meanings. Either treatment should be available or pregnancy termination should be on the agenda. In vitro fertilization with genetic testing minimizes these discussions. After the IVF and PGD process, your risk is significantly reduced and it will likely result in normal pregnancy tests. This will allow you to spend the rest of the pregnancy comfortably.”

What is the PGT-A Process?

Assoc. Dr. Gülay Ceylaner stated that if the embryos are examined at the in vitro fertilization stage, a large number of chromosomal disorders can be encountered. Assoc. Dr. Gülay Ceylaner also said the following about this situation: “When embryos with chromosomal disorders are transplanted, pregnancy does not occur. However, sometimes pregnancy can occur despite this chromosomal disorder. In this case, either the pregnancy results in a miscarriage or the baby may be born sick. Chromosome studies can be performed on embryos to reduce these possibilities. However, there are some conditions required for this. For example, in previous pregnancies, the cause of which is too many unexplained pregnancy losses, or in previous IVF applications, chromosomal abnormalities are seen in embryos or there are unsuccessful IVF attempts. Before this decision is made, a consensus should be reached with the geneticist’s evaluation that these processes can be beneficial.”

Genetic Tests and IVF Treatment

Another valuable point about IVF is that there are families who start IVF treatment because they have trouble having children. Assoc. Dr. Gulay Ceylaner “The effects of genetic factors can be seen in a valuable part of the families entering this process. Although it is not very habitual in general, it is very valuable to do some genetic studies and at least meet with a geneticist before starting the processes in these families. Thanks to the technological developments that have taken place recently, it is possible to find the cause of a valuable part of the cluster, which we call infertility, the cause of which was unknown before. For this reason, I recommend that couples who have trouble having children contact a genetic center before starting their treatment. (BSHA – Science and Health News Agency)