preimplantation genetic testing

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What is PGT?

Preimplantation Genetic Testing is a procedure used prior the implantation to detect and prevent the transmission to the offspring of serious diseases caused by genetic and chromosomal alterations in embryos, to ensure that children are born free from hereditary diseases.

The most commonly used types of Preimplantation Genetic Testing are:

preimplantation genetic testing - preimplantation genetic diagnosis

Preimplantation Genetic Diagnosis (PGD)

When one or both parent(s) are carriers of a genetic condition (gene mutation or unbalanced chromosomal rearrangement), a genetic diagnostic can be performed to determine whether that condition has been transmitted to the embryo.

preimplantation genetic testing - preimplantation genetic screening

Preimplantation Genetic Screening (PGS)

Even if the parents have no known genetic abnormalities, their embryos can also be screened for chromosomal abnormalities to determine if the embryo has too many or too few chromosomes.

Who can benefit from PGT?

Couple expecting a healthy baby after PGD testing

Any couple undergoing in vitro fertilization is a potential candidate for aneuploidy testing and could benefit from performing genetic diagnosis tests.

Couples at risk of passing on a genetic disease or condition could also be candidates for PGD, in addition to the following groups:

  • Carriers of gender-linked genetic disorders
  • Carriers of single gen disorders
  • Those with chromosomal disorders
  • Women aged 35 and over
  • Women experiencing recurrent pregnancy loss
  • Women with more than one failed fertility treatment

Gender selection

PGD has also been used for the purpose of gender selection

It can be used to detect which embryos are XX or XY. The desired embryos can be placed into the uterus to achieve pregnancy.

PGD is the only method for gender selection that is close to 100% accurate.

How does PGT work?

Preimplantation Genetic Testing (or PGT) is a test which is performed after IVF is completed, when the oocytes have been fertilized and the embryos start dividing.

A genetic test can be carried out once the embryo has reached the 8-cell stage (around the 3rd day of development), by removing a single cell (blastomere biopsy). Then, the embryo is returned to the incubator for further growth.

However, it is recommended to perform the biopsy once embryos have become blastocysts (day 5-6). By the 5th day of development, the embryos will have divided into approximately 100 cells and have formed the outer layer that will eventually become the placenta. At this stage, a trophoblast biopsy can be performed, by removing a few cells from the outer layer. This procedure does not affect the embryo’s quality or ability to implant.

Preimplantation genetic testing in a lab

Preimplantation Genetic Testing we offer

Preimplantation genetic testing: Baby gender selection

PGD5
On 5 pairs of chromosomes

A PGD5 tests for the presence of the most frequent chromosomal abnormalities in embryos that prevent the embryos from developing normally or can cause a chromosomal pathology.

PGD5 provides embryo screening for the following:

  • (X, Y) Gender selection
  • (13) Patau Syndrome
  • (18) Edwards Syndrome
  • (21) Down´s Syndrome

PGD9
On 9 pairs of chromosomes
(X, Y, 13, 15, 16, 17, 18, 21, 22)

In addition to screening chromosomes X, Y, 13,18,21, PGD9 testing also analyses chromosomes 15, 16, 17, 22, which can cause syndromes leading to frozen pregnancy or miscarriage amongst other conditions.

The results for PGD9 usually take 5 days

Preimplantation genetic testing: Baby items
PGT: Baby toys

PGD
On all 23 chromosomes

The use of new technologies, such as the Comparative Genomic Hybridization (CGH) or Next Generation Sequencing (NGS), allow us to screen and study monogenic hereditary diseases and chromosomal abnormalities on all 23 pairs of the chromosomes in the embryo. This improves the accuracy of the testing and allows us to improve the chance for pregnancy and reduce the risk of miscarriage.

FAQ

  • What is the risk of delivering a baby with a chromosomal disease?
    • According to the data of the World Health Organization, chromosomal disorders are observed in 0.3% of all new-borns, in 25% of all miscarriages and in 50-60% of miscarriages which occur in the first trimester of pregnancy.
    • Chromosomal diseases in a foetus increase with the woman’s age because as a woman ages, the percentage of abnormal eggs increases as indicated below:
      • 30 years of age 1/385 chance
      • 40 years of age 1/63 chance
      • 45 years of age 1/19 chance
  • What are chromosomal/genetic abnormalities?

  • There are many types of chromosome abnormalities. However, they can be organized into two basic groups: numerical abnormalities and structural abnormalities.

    • Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair, the condition is called monosomy or when an individual has more than two chromosomes instead of a pair, the condition is called trisomy.
      • Trisomies account for the most common genetic abnormalities – conditions such as Down’s syndrome (having a extra copy of chromosome 21), Patau’s syndrome (having a extra copy of chromosome 13) and Edward’s syndrome (having a extra copy of chromosome 18).
    • Structural Abnormalities: A chromosome's structure can be altered in several ways.
      • Deletions: A portion of the chromosome is missing or deleted.
      • Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material.
      • Translocations: A portion of one chromosome is transferred to another chromosome.
      • Inversions: A portion of the chromosome has broken off, turned upside down, and reattached. As a result, the genetic material is inverted.
      • Rings: A portion of a chromosome has broken off and formed a circle or ring.
  • Are they any risks associated to performing a PGD test?
    • The risk of accidental damage to an embryo as a result of performing a PGD test is <0,5%.
  • What are the advantages of PGD?
    • You can choose which embryos you transfer as PGD will determine which embryos are healthy in addition to the gender.
    • Reduces the risk of delivering a baby with certain chromosomal diseases.
    • Reduces the risk of a miscarriage or premature delivery.
    • Increases the chances of successful implantation (by approximately 10%).
    • Increases the chances of delivering a healthy baby (by approximately 15-20%).
  • How long does PGD testing take?
    • PGD testing can take up to one month to get the results.
  • Who benefits most from PGD?

  • PGD is generally used by couples with a family history of a serious or deadly disease who worry about passing it on to their offspring. PGD helps by looking for specific markers for a certain disease, for example, single gene disorders including cystic fibrosis and sickle cell anemia. It is also used when there’s a family history of sex-linked disorders including Fragile X syndrome and Duchenne muscular dystrophy. Parents may also use PGD to find matching stem cells for other siblings in need of a bone marrow transplant.

    • Women aged more than 35 years;
    • Couples, whose anamnesis contains repeated natural abortions before 12 weeks;
    • Couples having multiple failed cycles of infertility treatment by means of IVF;
    • Couples, whose karyotype has chromosomal disorders.
  • Is PGD legal in Ukraine?
    • Yes, Preimplantation Genetic Diagnosis is a legal procedure in Ukraine since 01.11.2013 and is regulated by the order of the Ministry of health of Ukraine "On approval of the application of assisted reproductive technologies in Ukraine" from 09.09.2013 № 787

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Why is this important?
This information helps us advise you on the legal process post birth in which you will need to apply to the embassy or consulate of your country to obtain a travel document for your baby. Each embassy has a slightly different processing time for the passport.

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