Gynecologist and obstetrician Op.Dr. Aret Kamar from Istanbul Women's Health and IVF Center will tell us about the curious things about IVF with genetic screening.
Of course, there have been many technological developments in IVF treatment in recent years. In vitro fertilization with genetic screening is one of them. What does genetic screening in vitro fertilization mean?
"In vitro fertilization with genetic screening is to check whether the embryo is healthy or not before it is transferred into the uterus. For this procedure, the baby needs to reach day 5, the blastocyst stage of the embryo. A biopsy is taken from the “trophectoderm” layer where the embryo attaches to the uterus. The biopsy looks at the DNA material inside the cells. Disturbances in the chromosome structure and number can be detected. Translocations are checked. Does the baby have Down syndrome, trisomy 13-18? Is there a familial genetic disease? The aim in all these cases is to transfer a healthy embryo. Sometimes such screening is needed to give a child with a genetic disease the chance of a bone marrow transplant. For example, let's consider a couple with a child with thalassemia. If we want a healthy baby without thalassemia with the same tissue group who can give bone marrow to this child of the family, the HLA is checked. After receiving the results of such screening tests, the baby is transferred into the uterus. Therefore, one of the purposes of in vitro fertilization is in vitro fertilization with genetic screening."
However, most people think that in vitro fertilization is only applied to childless couples. IVF can also be used for fertility preservation. When a frozen embryo is transferred to a woman who is 60 years old, the pregnancy rate does not change. IVF can also be used in couples with a genetic disease to prevent the transmission of this disease to the child. If you have a baby with a disease, it can also be used to ensure that the healthy child you give birth to can give him/her bone marrow. Therefore, IVF with genetic screening is one of the most beautiful innovations brought by technology."
WHO SHOULD UNDERGO GENETIC TESTING AND WHEN?
In vitro fertilization with genetic screening is of course a special method. It is not performed on every person undergoing IVF treatment. Which women and couples do you especially recommend IVF with genetic screening?
"First of all, I would like to talk about the misconceptions and abuses on this subject. First of all, it is important to know that when we genetically test an embryo and say that the embryo is healthy, this embryo will not bring more pregnancies. Secondly, when we genetically test an embryo and put it into the uterus, there is no such thing as a miscarriage. There are some embryos that we have to perform genetic testing for various reasons and then put them into the uterus, and there are also some who do not get pregnant or have miscarriages. There are also misconceptions about this issue. There is also abuse. Because women who cannot get pregnant after treatment may be offered an option to increase their chances in the second stage by saying “Let's do IVF with genetic diagnosis”. This is wrong. We do not accept this. Because genetic tests are not 100 percent tests. As I mentioned before, we do this from the trophectoderm layer of the baby. The place where the placenta is formed is actually a place where the embryo discards its bad cells. When we do a genetic test, even if the embryo turns out to be defective, we cannot say one hundred percent that the embryo is really defective. Plus, there is a possibility that these embryos can repair themselves when they are implanted in the uterus. Therefore, the result you get when the embryo is genetically tested may not be 100 percent accurate. In fact, we can label a healthy embryo as a defective one. As a matter of fact, there are women and their babies that we have transferred to the uterus and delivered after proving that they are healthy by amniocentesis. Genetic testing is very important, especially in couples who carry a disease. Genetics should be checked before the baby is transferred into the uterus. Genetic testing is very important in order to perform bone marrow transplantation for the sick child of the family and to give birth to a sibling compatible with the HLA group. However, it is not right for us to say “Let's do genetic testing to increase the chances of success in IVF”. This issue is being discussed in the world.
In Mediterranean countries, the opinion of genetic testing is a bit more dominant. They do in vitro fertilization after genetic testing. This increases the cost 2-3 times. In some patients, it can bring more harm than good. And in whom? Now, some of our patients are young women with abundant eggs. When you do genetic screening for women in this group, a healthy baby is necessarily found and you implant it. The chance of pregnancy does not increase, but you are a little more sure of the embryo you implant than an embryo that has never been checked. However, there is a group of patients who have very few eggs. They can hardly give eggs. You collect one or two eggs with difficulty. These are the patients who undergo IVF especially at an advanced age. Therefore, in this group of women, at best, half of the embryos can be lost in the laboratory with the goal of “genetic testing of the embryo on the fifth day”. Therefore, if those lost embryos were transferred into the uterus, would they bring pregnancy? A big question mark. Day five came and the test was done. The test showed that the baby was disabled. I wonder if it is really crippled, is it wrong? If I had placed this baby in the uterus, would it have turned into a healthy baby? These are all question marks."
DOWN SYNDROME SCREENING WITH FETAL DNA TEST IN THE WOMB
Let's say that a healthy embryo is found and transferred into the uterus. The woman is pregnant and her baby is growing. Even in such a case, she can say, "We checked your uterus to make sure it was intact when we transferred the baby. You don't need to have any more tests during pregnancy. You conceived with a healthy embryo. You can give birth with peace of mind." No, we cannot. Even though a healthy embryo is transferred, we still check to see if the baby is healthy. We still do the necessary tests. Such as double test, triple test, fetal DNA tests. We also do a detailed ultrasound to see if there is any disability in the baby. In short, even if we put a healthy embryo into the uterus, we do not trust that the baby is 100 percent healthy. Then we should not do this test in some patients. Because this test really reduces people's chances. There are many such people who apply to us. "I tried somewhere else, they collected it, it didn't go to day 5, the embryo was not healthy. You look and see that the woman has tried 10 times, not one transfer. Today we have a weapon in our hands. When a woman gets pregnant, whether her age is 42, 43 or 45, we do a fetal DNA test on the baby. The fetal DNA test is a test performed in the third month of pregnancy that scans the baby's cells that are shed in the womb and is almost as accurate as taking water from the baby. With this test, which is performed in the third month of pregnancy, it can be understood within 10 days whether the baby has Down syndrome or not. Therefore, when we have such a weapon in our hands, especially older women should get rid of the fear of “what if I give birth to a disabled baby”. Genetic testing is an important weapon to give birth to a healthy baby. But when used incorrectly, it is a weapon that does more harm than good."
HOW MANY DAYS DO GENETIC TESTS ON EMBRYOS TAKE?
So, how long does it take to get the results of genetic screening tests in IVF?
"This depends on the tests performed. If you are looking for a numerical and structural disorder, the test result can come out in 2-3 days and you can transfer. If you are looking for a disease, the test result will be available in about 20 days. Therefore, in case of disease carriers, biopsies are taken when the embryos reach day 5. If the patient lives abroad, they can return home. Studies are continued on those embryos. And when the tests are completed, let's say three embryos are healthy and suitable for transfer. The patient is informed about this. She starts preparing for her first menstrual period and then comes for the transfer."
THE IMPORTANCE OF THE EMBRYOLOGY LABORATORY IN THE SUCCESS OF IVF
The embryology lab must also have a very important place for healthy babies.
“It certainly does.”
Especially in choosing the right embryo. What kind of developments are there in IVF treatment today? What is the role of the embryology laboratory in the success of a good IVF center?
"The embryology laboratory is like the kitchen of a restaurant. There is genetic testing and then the freezing of healthy embryos. So, when should embryos be frozen? Embryos should be frozen in women with few eggs. After the biopsy, embryos should be frozen and kept until the test results are available. If the frozen and thawed embryo is not healthy, in vitro fertilization cannot be performed. This is why it is extremely important that the freezing systems work very well. The biopsy environment should not be harmful to the embryo. After the embryo is exposed, its shell is opened and a collection of cells is removed. The embryo then remains in the external environment. It is then frozen again and stored inside until the results are available. In other words, the thawed embryo is often frozen again. When the result is available, it can be transferred. Therefore, if you damage the embryo during these procedures, it will already be dead when thawed. Embryo freezing and thawing should be carried out in a non-toxic environment by a good and experienced team who are skilled in taking biopsies. In this way, it is possible to find healthy embryos and to achieve healthy pregnancies with these healthy embryos under good conditions."
Cystic Fibrosis and Thalassemia are Common in Mediterranean Countries
HEALTHY BABIES WITH GENETIC SCREENING IN VITRO FERTILIZATION
What is Turkey's place in the world in terms of IVF and embryology laboratories with genetic screening? What advice would you give to patients from Greece planning to come to Turkey for IVF treatment?
"The most common diseases in Mediterranean countries are cystic fibrosis and thalassemia. In these diseases, healthy embryos are selected and in vitro fertilization is performed. First of all, in terms of technique and technology, we are all good because almost the same materials are used all over the world. But those who do a lot of work are always a little better. Because his hand is now used to that job. Turkey is a country favorable to reproduction. Therefore, we do things related to fertility very well. Because people have done it many times, even the most inexperienced ones have done it many times. It is also cheaper. In the past, when there was a problem with genetics, blood used to be sent to countries like Germany and America. Now, Turkey's genetic laboratories are in a position to perform all these tests very easily and give healthy results. Therefore, the inadequate infrastructure of our youth no longer exists. And since we are constantly doing this kind of work and especially since we are one of the countries in the Mediterranean region, we have mastered in vitro fertilization with genetic screening."