Genetic Diagnosis and Counseling

Do Genetic Counselors Perform Tests?

Genetic Diagnosis and Counseling

Do Genetic Counselors Perform Tests?

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.

Preimplantation Genetic Testing

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.

genetic diagnosis

Indications for PGT

Genetic Diagnostic Methods

genetic diagnosis

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PCR Diagnostics

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.

FISH Diagnostics

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.

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CGH Diagnostics

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New Generation Sequencing

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.

genetic diagnosis

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