Preimplantation diagnosis of the embryo by PCR

Preimplantation genetic diagnosis of the embryo (PGD) by PCR, which is performed at theIVMEDclinic, allows to exclude the development of monogenic diseases in the child.

Monogenic diseases are hereditary in nature and are caused by a mutation of a single gene allele. Such diseases include alpha or beta thalassemia, spinal muscular atrophy, Duchenne muscular dystrophy, cystic fibrosis, sensorineural deafness, etc.

The PCR method increases the PGD:

• chances of a successful pregnancy;
• the probability of having a healthy child at risk of monogenic pathology.

Reduces:

• risk of spontaneous abortion;
• the likelihood of rhesus conflict;
• risk of chromosomal pathology in the child;
• the number of unsuccessful IVF cycles.

Polymerase chain reaction (PCR) is a genetic testing technique aimed at detecting specific copies of embryonic DNA that indicate the presence of pathology. It allows amplifying (multiplying) DNA and its fragments, increasing the number of copies by millions of times in a few hours, for further analysis.

Preimplantation genetic diagnosis of the embryo by PCR is performed if:

• the expectant mother is 35 years old and older, and the expectant father is 40 years old and older;
• at least one of the spouses is a carrier of chromosomal or genetic pathologies;
• a man has impaired spermatogenesis;
• the woman has a history of miscarriages (more than 2);
• the family already has a child with a monogenic chromosomal disease;
• the previous pregnancy was terminated due to a Rh conflict;
• the couple has a history of unsuccessful IVF attempts.

Features of the PCR method

• 98% accuracy of preimplantation genetic diagnosis of the embryo by PCR;
• 5 – embryo cells are taken for examination on the 5th day of cultivation;
• 25% – PGD by PCR in the structure of all preimplantation studies in the world;
• 0.07% – this is how many cells of the total cell mass of the embryo are needed for diagnosis.

How to perform PCR-based primary care

1. Preimplantation genetic testing of the embryo by PCR is performed as part of the IVF protocol. The fertilized egg is placed in an incubator. After 5 days of cultivation, the embryo reaches the blastocyst stage. A blastocyst consists of an outer layer of cells (trophectoderm) and an inner cell mass (embryoblast).
2. A biopsy is performed on the 5th day of embryo development. The embryologist uses microtools to take a few trophectoderm cells for analysis. The embryoblast cells, which will become the basis for the formation of fetal organs in the future, are not affected. Therefore, the biopsy is safe for the embryo and does not disrupt the natural process of its development. After taking the cells for analysis, the embryos are vitrified (frozen).

The obtained material is sent to a genetic laboratory. The PCR test is performed in the following order:

1. Denaturation of DNA to unwind its double strand.

2. Amplification of the amount of genetic material (by adding DNA fragments of specific enzymes).

3. Examination of nucleotides for defective zones.

The PCR method allows you to obtain accurate data on the structure of genes and DNA fragments of the embryo with a minimum amount of biological material.

Based on the results of PGD, the most promising embryos are selected, one of them is thawed and, after preliminary medical preparation, the patient is transferred to the uterus.

Take advantage of preimplantation genetic diagnostics by PCR at theIVMEDclinic to prevent pregnancy complications, Rh conflict, and increase your chances of having a healthy baby.