Pre-implantation diagnostics
(also known as PGT testing) is performed during the in vitro fertilisation programme and involves analysis of genetic material extracted from trophoectoderm cells collected during an embryo biopsy.
(also known as PGT testing) is performed during the in vitro fertilisation programme and involves analysis of genetic material extracted from trophoectoderm cells collected during an embryo biopsy.
What is pre-implantation diagnostics?
What is pre-implantation diagnostics?
Pre-implantation diagnostics consist of genetic testing of embryos prior to their transfer into the uterine cavity.
It is intended to reduce the risk of genetic disorders in children by detecting embryonic aneuploidy (PGT-A) or specific genetic alterations (PGT-SR, PGT-M), thereby increasing the chance of pregnancy.
Diagnostics
Required testing
Female partner
Female partner
Male partner
Male partner
An IVF procedure is necessary for an embryo biopsy, so all the tests essential for an IVF procedure are required. Furthermore, a consultation with a clinical geneticist is also required in order to take a history, order any additional tests, determine whether a genetic disease is carried and, together with the genetic laboratory, select a diagnostic method.
Test
Course of testing

Stage 1
Conduct of in vitro procedure
The biopsy procedure is performed on embryos either during or after in vitro culture, so an in vitro fertilisation procedure is required.



Stage 2
Embryo culture
Once the mature oocytes are collected, they are fertilised (by ICSI or classic IVF) and the embryos are cultured until day 5 or 6 so that the embryo progresses to the blastocyst stage. This is the best time to safely collect trophoectoderm cells to be screened for a specific genetic condition.

Stage 3
Embryo biopsy
The biopsy procedure is done on fresh embryos during in vitro culture, once the embryos have reached the blastocyst stage. A biopsy may also be performed on embryos that have already been frozen; however, whether this is technically feasible depends on the quality of the embryos and the number of cells comprising them. For weaker embryos, the advisability of thawing and biopsy is consulted individually with the embryologist.

Good to know
All you should know
about this method

Pre-implantation diagnostics are intended for couples undergoing infertility treatment, using IVF, and/or for couples who carry genetic disease-causing genes and wish to reduce the risk of genetic disorders in their children
This method is recommended for couples who decide to become parents later in life, especially women over 35, when the incidence of genetic disease in the offspring increases significantly.
An embryo biopsy is a medical procedure done both to treat infertility and for genetic diagnostics. Below we list some circumstances that may benefit from it:
1) Infertility treatment:
An embryo biopsy is often done as part of an IVF procedure. A biopsy may be useful for assessing the quality of embryos prior to their transfer into the uterus.
2) Genetic diagnostics:
An embryo biopsy allows for collection of cells for genetic analysis prior to implantation of embryos into the uterus. This is particularly relevant for couples who carry genetic disease-causing genes.
3) Improving chances of successful treatment:
By selecting genetically healthy embryos, the procedure may improve the chances of implantation and a healthy pregnancy.
4) Recurrent infertility testing:
An embryo biopsy is also useful for couples experiencing multiple IVF procedure failures; it allows for the identification of possible genetic problems.
Pre-implantation diagnostics has certain limitations. In the following situations, this method may not be advisable:
No specific genetic diagnosis:
The test is usually performed in cases where there is a known risk of inheriting a specific genetic disease.If there is no specific genetic diagnosis or no identified genetic risks, the test may not be recommended.
Low number of ova or poor sperm quality:
If the number of ova or sperm quality is very low, pre-implantation diagnostics may be difficult to perform and the results may be less accurate.
It is important that the decision to proceed with pre-implantation diagnostics is made on an individual basis, considering all medical, genetic, emotional and ethical aspects.
Each couple should consult a specialist physician to get full information on their circumstances and options related to pre-implantation diagnostics.
Preparation for pre-implantation diagnostics requires the same preparation as for the in vitro fertilisation (IVF) procedure; additionally, the couple should consult a reproductive medicine specialist or a genetist.
The physician will take the couple’s family medical history and ask about the couple’s medical circumstances.
If the couple presents with a specific genetic risk, it may be necessary to run appropriate genetic tests before starting pre-implantation diagnostics.
Together with the physician, the couple will work out the specific type of pre-implantation diagnostics.
More about pre-implantation diagnostics
Types of PGT test
PGT-A
The test detects chromosomal numerical variations in the embryo karyotype, known as aneuploidies. It allows for detecting diseases caused by variations in the number of specific chromosomes, such as Down’s syndrome, Turner’s syndrome or Patau’s syndrome, or other defects causing fetal mortality.
PGT-SR
The test is done in case of structural changes in the parents’ karyotypes, so-called chromosome rearrangements such as translocations, deletions, and/or duplications.
PGT-M
The test is done to find variations within a single gene that cause so-called monogenic (single-gene) diseases. The PGT-M test is primarily done if one or both parents are ill or are carriers of a monogenic genetic disease.
The choice of a specific type of pre-implantation diagnostics is dependent on test objectives and the type of genetic abnormalities to be identified. It is important that decisions regarding pre-implantation diagnostics are made in close collaboration with the medical team, and in particular with the clinical geneticist, who will determine the appropriate testing method based on the specific needs of the couple.
The price list
Surcharge for embryo/frozen embryo biopsy (one-time fee for all embryos) |
PLN 1 000 |
PGT-A – chromosome aneuploidy diagnostics – price for first embryo |
PLN 4 500 |
PGT-A – price for each subsequent embryo |
PLN 2 200 |
PGT-SR – structural chromosome rearrangement diagnostics – price for first embryo |
PLN 4 500 |
PGT-SR – price for each subsequent embryo |
PLN 2 200 |
niPGT – non-invasive chromosomal aneuploidy diagnostics – price for first embryo |
PLN 3 400 |
niPGT – price for each subsequent embryo |
PLN 2 200 |
PGT-M – single-gene defect genetic diagnostics: cost of genetic laboratory preparation (setup) and fresh embryo biopsy (one-time fee) |
PLN 10 500 |