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Reproductive-genetic diagnosis and counseling in infertile couples becomes a comprehensive communication process purposed to evaluate a risk for genetic disorder in an offspring and to discuss measures to minimize that risk and improve fertility treatment outcomes.
PGT is well established as an integral component of the prenatal genetic diagnosis “kit”. PGT is offered for both chromosomal abnormalities (PGT-A) and for monogenic disorders (PGT-M) tests. PGT helps a couple to avoid clinical termination of an impacted pregnancy. Genetic diagnosis requires biopsy of all embryos with transfer of those that are known to be genetically healthy only. Affected embryos simply can not be transferred.
PGT was initially applied for the same indications as in prenatal genetic diagnosis. Later, the list included indications for which prenatal genetic diagnosis is regarded as ethically difficult. The list of key indications is as follows: a woman reaches 40 years, severe male infertility, repeated miscarriages, multiple implantation failures, sex selection, including the presence of sex-related diseases, balanced chromosomal translocation.
It is universally recommended to use invasive methods. Today, four main methods of PGT are available in Ukraine, such as PCR diagnostics, FISH diagnostics, Comparative Genomic Hybridization (CGH), and New Generation Sequencing (NGS) as the latest and widely used method for genome-wide screening of embryos. However, future use of non-invasive tests is possible as the robustness and accuracy of Non-invasive Prenatal Testing (NIPT) methods increases.
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Polymerase Chain Reaction (PCR) diagnostics allows selecting an embryo that will not be a carrier of the mutation, and thereby interrupts the family heredity of the disease and gives birth to a healthy child. To perform PCR diagnostics, one shall have a family mutation confirmed by the previous DNA diagnostics. The final decision, of course, is up to you. Our specialists will be glad to discuss any aspects of preimplantation diagnostics with you.
The FISH diagnostics method is used in preimplantation, prenatal and postnatal genetic diagnosis. In preimplantation diagnostics, the FISH method is used for selection of embryos by gender, screening for embryo aneuploidies by 9 chromosomes (13, 15, 16, 17, 18, 21, 22, X and Y) in patients over 38-40 years old, carriers of chromosomal rearrangements with an expected minimum size of unbalanced disturbances of up to 2-5 million base pairs.
Comparative Genomic Hybridization (CGH) is used to screen embryo aneuploidies for all chromosomes in cases of multiple failed assisted reproduction cycles, recurrent miscarriage in karyotypically normal embryos, in carriers of chromosomal rearrangements with an expected minimum size of unbalanced disorders of more than 2-5 million base pairs. Our doctors will match the appropriate tactics of preimplantation diagnostics.
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New Generation Sequencing (NGS) is the latest method for genome-wide screening of embryos. Its advantage over aforesaid CGH lies in better detection of mosaicism. NGS allows for clearer detecting and optional reporting of aneuploidy mosaicism within a sample of biopsied cells compared to microarrays. NGS makes it possible to perform substantially wider and more detailed analysis of the genetic causes and relationships of pathological conditions.
The subsequent transfer of embryos without chromosomal abnormalities allows us to prevent the birth of a child with chromosomal diseases, reduce the level of reproductive loss during pregnancy, and improve the efficiency of IVF cycles. Surrogacy Ukraine offers the following services: screening of 9 chromosomes (13, 14, 15, 16, 18, 21, 22, X, Y) with sex selection, and NGS for genome-wide screening of embryos.