Preimplantation genetic testing

Preimplantation genetic tests aremethods for the development of healthy oocytes or embryos, with the aim of producing the child with genetic disorders, which affect the type of cells Podiatric technologies, embryology and genetics.

In this unpaired embryo there are 46 xpomosomes, 23 of the egg is extracted from the egg, and 23 of the octanalyte is from the cepmatozoid. This is an embryo that contains 46 non-small xpomosomes in the form of an eploid embryo. Xpomosomes are the number of genes that produce the same genes, which are responsible for the growth of the pact and the evolution of different species. What will be felt in the human body. The genes of 30,000 genetic genes derived from DHK are found in a specific locus and a breeding “gene” for this disease. gene and non-gene expression. The appearance of a non-specific type (type), the disease and the appearance in the body of a genite or an exoplanet can be attributed to these communities.

Types of preimplantation genetic tests: PGT-A, PGT-M, PGT-SR

PGT(Preimplantation Genetic Testing) brings together all genetic tests performed on embryos prior to transfer. Depending on the purpose, PGT is divided into three main types:

📌 PGT-A

• Explores the number of chromosomesin the embryos.
• The goal is to find aneuploidies— chromosomal abnormalities such as trisomies (e.g. Down syndrome).
• Suitable for:
  • Women over 35 ;
  • Repeated miscarriages;
  • Several unsuccessful IVF attempts;
  • Male factor (high DNA fragmentation).

In PGT-A, embryos are analyzed for the number of all chromosomes. The aneuploidy is a paezppoctpaeneanata xpomosoma anomaly and the left side faces a complementary xpomosoma (tpisomia) or lack of xpomosoma (monosomy). Anyone who has additional or missing xpomosomes, is likely to be implanted on the left hand, indicating that there is a risk of spontaneous abortion. Any known Xpomosomes 13, 18, 21, X or U may be subject to implantation and transplantation to prolong the course of life, in the face of this disease. e c xpomozomo zobolajavané. The Hay-PazpPoctPaenaThe Tpizomy is Tpisomy 21 or the Cindpom of Dain. Octanalytes from the left include Cindpom na πatay (typisomy 13), Cindpom na Edyapd (typisomy 18), Cindpom na Klainfeltep (47 XXU), Cindpom na Tapnum P (45 X, non-flowering pole of the xpomosome). In addition, the following groups are defined as typisomies 15, 16, 21 and 22. Haj-paazppoctpanenite aneyploidies ppi embpioni a 3 days ca 15, 16, 17, 21 and 22.

The feeling of aneuploidy will be manifested in the unacknowledged attitudes of the human being. These women will fall from their eggs for a lifetime, considering that the eggs laid by the women in the next generation are more likely to be consumed. in the case of eggs, in the case of a higher percentage of eggs laid with a missing or complementary egg, zooma. The study found that 20% of women aged 35-39 years and 40-60% of women aged 40 and women aged 40 and women aged 40 and women aged ca c aneyploiple. diums. At least 85% of aneuploidies in embryos occur in the ovum. Sperm aneuploidies have a much smaller proportion, amounting to about 7-8%. The remaining aberrations occur by chance during cell division in the early embryonic stage.

How is the process going?

1. IVF/ICSI procedureEmbryos are created in laboratory conditions;
2. Embryo biopsy— on day 5 or 6when the stage is reached blastocyst, several cells are taken from the trophectoderm;
3. Genetic analysis— is carried out in a specialized laboratory using NGS (next generation sequencing) or other reliable technology;
4. Freezing of embryosWhile waiting for the results;
5. TransferOnly embryos with normal chromosome set (euploid).

When is PGT-A recommended?

• In women over 35 years old;
• At recurrent miscarriages;
• At repeated unsuccessful in vitro transfers;
• At severe male factor(deteriorated morphology, high DNA fragmentation);
• At the request of reducing the risk of genetic abnormalities.

✅ Benefits of PGT-A:

• Higher implantation success rate;
• Lower risk of miscarriage;
• Increased chance of birth of a healthy child;
• Reducing the need for multiple transfers;
• More informed and controlled treatment.

What can not detect PGT-A?

PGT-A does not diagnose monogenic diseases(e.g. cystic fibrosis) or structural chromosome rearrangements— they need PGT-M and PGT-SR.

Also, he does not guarantee 100% successful outcome, because implantation and pregnancy also depend on other factors — endometrium, hormones, general health.

📌PGT-M

• It is tested for certain monogenic (hereditary) diseases, e.g. cystic fibrosis, thalassemia, hemophilia;
• It applies when one or both partners are carriers of a specific gene mutation.

How is the process going?

1. Genetic testing of partners— to establish the mutation and the type of inheritance;
2. Custom Test Development— specific to the particular pair and mutation;
3. In vitro fertilization— a standard IVF/ICSI procedure is performed;
4. Embryo biopsy— on day 5/6 of the blastocyst, several cells from the trophectoderm are taken;
5. Genetic analysis— carried out in a specialized laboratory;
6. Embryo selection- for transfer are selected only those who do not carry the disease.

⚠️ Usually testing and analysis take several weeks, which is why embryos are freezeand the transfer takes place in the next cycle.

🧡 What are the benefits?

• Allows the birth of a healthy childwithout transmission of the inherited disease;
• Prevents the need to terminate a pregnancy due to severe diagnosis;
• Reduces emotional and physical risk for the couple;
• Also suitable for families with previous heavy losses or sick children.

📋 Examples of diseases that can be detected with PGT-M:

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📌 PGT-SR — for structural chromosome rearrangements

• It is used in couples in which one partner is the carrier of translocation, inversion, or other chromosomal defect;
• It is analyzed the structure of chromosomes— whether it is balanced or unbalanced. Patients with 'balancipeds' or 'painclosures' should not be replaced, so that there is no excess or missing Xpomosome tissue and treatment. The objective is not to be paid for by the financial institution. It is typical for these patients that they do not have a medical population in which there is no known fetal infection. 'Hebalancypana' is one in which the patient has excess or missing Xpomosome tissue. The case for implantation of an implant with a patient, a patient, a child, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a patient, a child, a patient, a patient, a child, a child, a child, a child, a child, a child, a child, a child, and a child. Noct — it may take two days for a person to live, that which will probably have physical or impersonal populations. ;
• The goal is to choose embryos with a normal or balanced chromosome setto reduce the risk of implantation failure, miscarriage or congenital abnormalities.

How is the process going?

1. Genetic counseling and karyotyping of parents— the presence of translocation or inversion is established;
2. IVF/ICSI procedureEmbryos are created in the laboratory;
3. Embryo Biopsy— on day 5—6 of development (blastocyst);
4. Genetic analysis— specifically aimed at identifying unbalanced forms of chromosomes affected in the parent;
5. Selection of embryos with a normal or balanced chromosome setfor transfer.

When is PGT-SR recommended?

• When established balanced translocation or inversionwith one parent
• At recurrent miscarriages
• At failed in vitro transfers
• At family history of structural chromosomal abnormalities

✅ Benefits of PGT-SR

• Reducing the risk of miscarriages;
• Higher probability of implantation and healthy pregnancy;
• Prevention of transfer of unbalanced embryos;
• Calm and control in in vitro treatment.

What does PGT-SR NOT do?

• Does not detect aneuploidies (incorrect number of chromosomes)— for this it is necessary PGT - A;
• Does not test for monogenic diseasesIt is used for them PGT-M;
• It does not replace the karyotype of the parents — it is mandatory before planning PGT-SR.

Summary:

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The following are recommended for the implantation genetic tests:

• the selection and implementation of these institutions, which shall be subject to the adoption of the relevant data for the purpose of the exploitation of the population;
• prevention of chronic diseases;
• prevention of malignant neoplasms;
• advanced stage of implantation of embryos;
• the higher the percentage of the lower part of the day.

The following are the results of the implantation genetic tests:

• caused by embionites (< 1%);
• misdiagnosis (false positive or negative) due to the natural mosaicism of embryos or technical limitations of the method (< 5%);
• There is no such thing as 100% of the total (20%) of the total number of employees.

In our clinic PGT analyses are performed with extreme precision and attentionbecause we know that behind every decision there is a personal story and hope.
We work with highly specialized team of embryologists, geneticists and reproductive doctors, which are individually tailored to each case.
We use established international laboratories and state-of-the-art technology to offer maximum reliability, transparency and care.

For us, every embryo is an opportunity. Every opportunity is a responsibility.

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