PGS-PGT Preimplantation Genetic Diagnosis

CATEGORIESINFERTILITYJune 7, 2022 By CK   0

With the recent developments in genetic science and PGS-PGT, it has been possible to examine the embryos developed by in vitro fertilization. PGS – PGT diagnosis method, which means genetic selection, is an application that can be applied to all age groups, provides a healthy start to pregnancy, and increases the chances of success in IVF trials.

These PGS – PGT applications, which mean genetic diagnosis in embryo or preimplantation genetic diagnosis and preimplantation genetic screening, are performed by taking one or more cells from developing embryos with the help of biopsy after fertilization of egg cells with sperm cells. These cells are examined using special methods and it is determined whether there is a numerical or structural chromosome disorder or whether they carry a single gene disease. These tests are recommended for couples who have a genetic disease or anomaly and who are likely to inherit these diseases and anomalies. With this procedure, only healthy embryos are transferred to the mother. It is of great importance for the birth of a physically and psychologically healthy baby. We, as IVOX hospital, Cyprus preimplantation genetic screening We present the application to you.

Who Needs to Have PGS-PGT?

• Individuals who have previously had a child with a single gene disease.
• Individuals who are found to be carriers of a single gene disease with a risk of transmission to the baby as a result of the scans. If one of the couples has this risk, it should be done.
• Mothers who are over 36 years old. However, it can optionally be applied to any age group.
• Individuals who have had two or more IVF applications, but have not resulted in pregnancy.
• Individuals with recurrent pregnancy loss.
• Individuals with advanced male infertility factor.
• Single gene disease or disorders that cause a single gene change in close or distant relatives of the couple.

Advanced Maternal Age Factor

As the mother-to-be gets older, the risk of aneuploidy in the baby to be born increases. Age factor affects the number of divisions of chromosomes in the egg. For this reason, excess or missing chromosomes may occur in the embryo. While the risk of aneuploidy in the embryos of women aged 35-39 is , this rate may exceed in women over 40 years of age. Pgt genetic screeningallows the implantation of chromosomally normal and healthy embryos.

Recurrent Pregnancy Loss

Loss of 2 or more pregnancies before the 20th week of pregnancy. The reason may vary. It can be caused by fetal anomalies or problems in the uterus. Chromosomal abnormalities are seen in -80 of miscarriage cases. Pgt genetic screeningincreases the pregnancy success rate with the chance to transfer healthy embryos to this group of patients.

Repeated IVF Practice Failure

It is the failure of 3 or more IVF applications despite the transfer of quality and healthy embryos. This group of patients pgt genetic screening increases the chance of pregnancy.

Male Factor Infertility

In males, gonadal failure is associated with a high incidence of hereditary or non-hereditary anomalies in embryos. Between %3 and 8 of the sperms of healthy men have chromosomal abnormalities. In men with severe infertility problems, this rate is between and 74. With PGS-PGT applications, chromosomal anomalies are eliminated and the chance of pregnancy increases.

When is PGS-PGT Procedure Appropriate?

After fertilization, a 3-day follow-up period begins in the culture system in vitro until the embryo reaches the 8-10 cell stage. One or more cells are taken from the embryos that pass this stage with the help of biopsy. Certain chromosomal tests are performed on these cells. In general, this procedure is performed on the chromosomes where the anomaly is seen most frequently. As a result of this procedure performed on 13, 16, 18, 21, 22, X and Y chromosomes, it is understood whether there is a chromosome disorder or not.

Embryos after the biopsy process 5th-6th. followed up to date. Of the embryos that have reached the blastocyst stage, only the healthy ones are transferred to the uterus of the expectant mother.

How to Take Biopsies from Embryos?

Pieces are taken from the embryos by the laser method under the microscope by embryologists. It is taken when the embryo is 3 days old, by blastomere biopsy taken at 8-10 cell stage or by transformerectoderm biopsy taken from the outer cell mass of the embryo at the blastocyst stage.

Transectoderm biopsy is preferred over blastomere biopsy because of the low rate of mixing of healthy and unhealthy cells, called mosaicism, and the possibility of damaging the embryo during the procedure.

What are Single Gene Diseases?

Single gene disease is the group of genetic diseases that occur as a result of mutation or malformation in a single gene encoded on DNA. This group of diseases is generally increasing due to consanguineous marriages. Single gene diseases; It can be passed to the baby through autosomal recessive, autosomal dominant, X-linked, Y-chromosome-linked and mitochondrial inheritance.

Diagnosis of single gene diseases is of great importance for the birth of a healthy individual. We have explained the list of diseases for which PGS-PGT can be applied, as follows:

Autosomal recessive single gene diseases:

• Cystic fibrosis
• Tay Sachs disease
• ß-thalassaemia
• sickle cell anemia
• Rh group determination
• Spinal muscular atrophy
• adrenogenital syndrome
• Congenital adrenal hyperplasia
• Epidermolysis bullosa
• Gaucher’s disease
• Fanconi anemia
• HLA compliance
• Triple repeat diseases
• Fragile X
• Myotonic dystrophy
• Huntington’s disease

Autosomal dominant single gene diseases:

• Marfan syndrome
• Charcot-Marie Tooth disease type 1-A
• Crouzons syndrome
• NF2
• Osteogenesis impeerfecta 1 and 4
• Stickler syndrome
• Tuberous sclerosis
• familial adenomatous polyposis coli
• Li Fraumeni syndrome
• retinablastoma

Single gene diseases linked to the X chromosome:

• Lesch Nyhan syndrome
• Oro-facial-digital syndrome type-1
• Hunter syndrome MPS2
• Alport syndrome
• Hemophilia
• Agammaglobulinemia
• Ornithine transcarbamylase
• Retinitis pigmentosa
• Charcoat-Marie Tooth disease

PGS-PGT Preimplantation Genetic Diagnosis 2

Healthy Embryos for a Healthy Pregnancy

As a result of these procedures, if it is understood that the embryo has the correct chromosome structure, either structurally or numerically, a healthy baby will be born as these healthy embryos are transferred to the uterus of the expectant mother. With the PGS-PGT method, it is understood whether the chromosome has the correct number and correct sequence, and it is possible to select chromosomally healthy embryos. Therefore, this method is a procedure that increases the chance of IVF. Moreover Cyprus genetic screening With this service, transmission of many diseases to the baby is prevented. This situation also increases the probability of having a healthy baby. In addition, since a single embryo transfer is performed regardless of age, it reduces the risk of multiple pregnancy. you too Cyprus preimplantation genetic screening If you are considering the transaction, you can safely get service from us.

What Happens If Embryos Are Chromosomally Unhealthy?

• If the embryo does not have a correct sequence or a numerically correct chromosome structure, the chance of these embryos to attach to the uterus decreases. This means that the probability of pregnancy is low.
• In a pregnancy with an unhealthy embryo, the pregnancy is likely to progress with miscarriage.
• When pregnancy occurs with an unhealthy embryo, the probability of the baby being born with health problems is high.
• An unhealthy embryo means an unhealthy baby. Babies with Down syndrome can be born if the pregnancy continues after the unhealthy embryo implants in the uterus.

In the IVF laboratory, even if the embryos are examined very well under the microscope and the embryo has an image of good quality and a healthy embryo, it does not mean that it is chromosomally healthy. Microscope is insufficient to know whether it is chromosomally healthy or not. Because pgt genetic screening application is important.

What are the Purposes of PGS-PGT Transactions?

Individuals have the possibility of transmitting the hereditary diseases they carry to their unborn babies. For this reason, it is important for people with genetic diseases to have these applications, in order to have healthy children. These procedures, performed using special techniques, enable the detection of hereditary diseases while they are still at the embryonic level. Numerical disorders in the chromosome, structural anomalies, single gene diseases and diseases related to the sex chromosome are detected. Moreover sex determination By doing this, hereditary diseases can be prevented from being passed on to unborn babies.

In infertile patient groups; It is applied to increase the chance of pregnancy in cases such as repeated IVF trials, advanced female age, severe male factor, recurrent pregnancy losses.

What are the Advantages of PGS-PGT Processes?

• Before the embryo is transferred, healthy embryos are detected as a result of the scans and only the healthy ones are transferred to the uterus of the expectant mother.
• The best embryos are selected for transfer.
• It increases the chance of the embryo attaching to the endometrium and therefore the chance of pregnancy.
• It reduces the rate of multiple pregnancy.
• As chromosomally healthy embryos are transferred, it reduces the risk of miscarriage in pregnancy.
• Situations such as psychological trauma after the couple’s medical termination of pregnancy are prevented.
• With tissue typing in hereditary diseases such as thalassemia, cystic fibrosis and myotonic dystrophy, treatment is provided for the couple’s child who was born with the disease before. Transplantation can be done with stem cells taken from bone marrow and cord blood.
• pgt pricesit is quite suitable.

What are PGS Techniques?

This holistic screening method, which is used to determine whether the embryo has a normal and correct number of chromosomes, has become a method with high success rates in terms of pregnancy, as it increases birth rates and prevents anomalies.

• FISH Method

A single cell is taken from the developing embryos on the third day and evaluated under the microscope after staining with fluorescent dyes. This method is an old method. It has the risk of error due to staining and can scan only 7-9 of 24 chromosomes. Today, this method is not preferred.

• a-CGH Comparative Chromosome Screening

This method detects changes in the amount of DNA. With the FISH method, which has been used for a long time in IVF applications, only a certain number of chromosomes are scanned, while a total of 24 chromosomes, 22 autosomal and 2 sex, can be scanned with comparative chromosome screening.

Duplications, deletions and translocations can occur on chromosomes. These maternal and paternal abnormalities can be detected by comparative chromosome screening. Single gene diseases are also detected by this method.

With this method, patients’ repeated unsuccessful IVF attempts are prevented. Since all chromosomes are scanned, it is a more reliable application. It is a method that provides a healthy analysis chance as more cells are examined.

• NGS Next Generation Sequencing

With this method, comparison is made with a second DNA known to be normal after DNA amplification, and both structural and numerical anomalies on chromosomes can be detected by a computerized system. The sequences of DNA fragments, which have undergone various processes with special techniques, are read and evaluated separately.

The advantages of the NGS method over the a-CGH method are as follows:

• Since it is a direct analysis method, it is a technique with high sensitivity.
• Mosaic embryo detection rate with the a-CGH method is %5. With NGS, this ratio is between -30.
• The abortion rate is lower in healthy and normal embryos detected by NGS.
• A higher rate of implantation is provided.

With these methods, the chance of healthy embryo transfer is provided. Pregnancy rates are also increasing significantly.

Does NGS-Based PGS Test Harm the Embryo?

This method, which is taken and examined by the biopsy method by trained and experienced embryologists, has no harm for the embryo. The biopsied embryos are then frozen one by one by the ultra-fast freezing method called vitrification. After freezing and thawing treatments, less than %5 of all embryos may experience loss of viability or complete deterioration and loss of viability.

In the studies, there is no detail that this procedure increases birth defect in babies who underwent NGS-based PGS procedure and resulted in delivery.

Reasons for Couples to Consider PGS-PGT Transactions

• It can increase the chances of success for embryo transfer. Doctors transfer only one healthy embryo through IVF. As the pregnancy rate increases, the risk of miscarriage and multiple pregnancies, which can pose a risk for both the mother and the babies, decreases.
• It is a method considered to determine the sex of the baby. The PGS method sex determinationhelps to. Thus, the risk of transmission of genetic diseases based on sex can be eliminated. Cyprus genetic screening Contact us for.
• It can be applied to reduce the risk of abortion. of pregnancies can progress with miscarriage. Recurrent miscarriages can affect the mother’s health and reduce the chance of conception. These methods reduce the risk of abortion.
• It can be applied to increase the chance of pregnancy. These procedures can be applied to increase the chance of pregnancy in many cases such as the advanced age of the expectant mother, recurrent failed implants, and male infertility.

Genetic Screening with PGS-PGT Procedures

For couples who want to determine the sex of the baby genetic screening can be done. Again, in order to prevent the transmission of a genetic disease related to sex to the baby, genetic screening can be done. Cyprus genetic screening For that, you can choose us.

To prevent the transmission of diseases such as muscular dystrophy, hemophilia, fragile X syndrome, autism to the unborn baby, genetic screening is important.

To determine the sex of the baby, the couple should resort to in vitro fertilization. With IVF treatment, the egg and sperm are fertilized in a laboratory environment. 3rd-5th of the developing embryos. Genetic processing is applied to embryos.

The sex of the baby is determined by looking at the XY chromosomes. Embryos of the desired sex are transferred to the uterus of the expectant mother. Genetic screening post- sex determination % gives accurate results as a girl or boy at a rate of 99.9. Cyprus genetic screening You can contact us for detailed information about.

However, TRNC Ministry of Health does not allow arbitrary determination of gender.

How are PGS-PGT Tests Performed?

Couples can have these tests done in order to have an idea about the genetic diseases that may affect the health status of their unborn babies, to know the hereditary characteristics, and to determine the problem causing the disease.

First of all, if there is a genetic disease diagnosed in the family, blood is taken from the sick child or family members, if any, and from the parents and spouses of the spouses, if not. A preparatory work called setup is done.

Then, genetic disorders are detected with cells taken from early embryos. After this determination, only intact embryos are transplanted into the uterus of the expectant mother.

The step-by-step preimplantation diagnostic steps are as follows:

• First, a cell sample is taken without damaging the embryo.
• The DNA of the cell is then extracted.
• DNA is copied by polymerase chain reaction.
• Then, it is determined whether there is a damaged or defective gene in the embryo DNA as a result of molecular analysis.
• After PGT application, genetically healthy embryos are determined.
• The healthiest embryo among the healthy embryos is transferred to the uterus of the expectant mother.
• Unused healthy and high quality embryos can be frozen and stored optionally.

Are PGT-PGS Methods Reliable?

In order to apply these methods, first the ovaries should be stimulated, then the egg cells should be collected, the sperm cells should be collected and finally these reproductive cells should be fertilized. Cell samples taken from embryos developing as a result of fertilization are examined through the opportunities provided by today’s technology. Cells are not damaged in any way. The margin of error is accepted as %2.

What are the prices of PGS-PGT Transactions?

Pgt prices varies depending on the treatment chosen based on the individual characteristics of the couple, the dose of the drugs used, the duration, and the number of embryos biopsied. Therefore, there is no fixed fee. However, to have detailed information about our operations and to pgt prices You can contact us to get it.

Details Couples Need to Know About Transactions

• Technical problems may occur during the preparation or biopsy phase.
• Even if a successful IVF and PGD procedure is performed, pregnancy may not occur after the transfer.
• The analysis result of a single cell may not be diagnosed as mosaicism. For this reason, prenatal diagnosis should be made and the result of the analysis should be confirmed.
• Since the test is performed on the biopsy cell, not all genetic problems are screened with the cell taken for testing.

Importance of Genetic Diagnosis

We get our genetic material from our parents and pass on half of our genetic information to our children. Our genetic information is on the DNA structure. The DNA molecule has a filamentous structure.

Each person has 23 pairs of DNA, half from the mother and half from the father. Genes encoded on DNA provide information about body functions and structure.

The human body consists of 23 pairs of DNA and 46 chromosomes. 22 of these are the same in men and women. The other pair is the sex chromosomes. It is XX in women and XY in men.

DNA and chromosomes cannot be seen with the naked eye. But it can be studied by special genetic methods. By making a genetic diagnosis, the number and structure of the genes encoded on the DNA or in the chromosomes can be determined. genetic diseases; It is divided into three groups as single gene diseases, chromosomal disorders and multifactorial polygenic diseases. Diseases that occur as a result of a single gene disorder are called single gene diseases. Gene disorder is a condition that varies depending on whether the gene is dominant or recessive and carries the risk of being passed down from generation to generation. sex determination this situation can be avoided.

Mothers and fathers, who generally have a single gene defect and have a healthy appearance, pass this gene on to their children. Each single gene disease has its own unique disease symptoms and the risk of being passed on to the next generation, depending on the type of disease.

Chromosomal disorders occur as a result of a numerical or structural deficiency or excess of the chromosome. Each chromosome should be in two pairs structurally and there should be a total of 46 numerically. In addition, the pairs of chromosomes that are stained and examined under the light microscope should be structurally identical to each other. In case of deficiency or excess of a part of the chromosomes, it causes an imbalance in the genetic material. This may prevent the implantation of the embryo. This may lead to pregnancy loss or reproductive problems, and may pave the way for the birth of a baby with congenital anomalies.

Despite the improvement of technology, the treatment of genetic diseases is still not possible. For this reason, diagnosis and screening methods for the prevention of genetic diseases come to the fore. In order to determine genetic risks or to make a diagnosis, it is of great importance to carry out genetic examination in individuals at risk for genetic diseases.

For healthy embryo selection, PGT-PGS method is often preferred. With this method, it gives the chance to have a healthy baby not only for couples who cannot have a baby, but also in cases where one or both of the spouses at risk for genetic disease are carriers. Cyprus preimplantation genetic screening You can choose us with confidence for the application.

Get Reliable Service at IVOX Hospital

We, as IVOX Hospital & IVF Center, are aware of the fact that we provide services in the field of health. For this reason, we offer you health services in line with your sensitivity and needs. pgt prices Our hospital is very economical compared to other hospitals. You can choose us with confidence for a quality health service.

Through our expert and professional doctors and embryologists Cyprus preimplantation genetic screening Get service from us with confidence for its application and a healthy process.

To have detailed information about our health services, Cyprus Genetic screening You can contact us at the contact numbers for information about or to make an appointment.