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PGT-A
Preimplantation test for aneuploidy. Allows the selection of a healthy and most promising embryo for transfer.
PGT-A ( Preimplantation Genetic Testing for Aneuploidy) is a genetic screening test that evaluates the number of all chromosomes present in a cell taken from an embryo at an early stage of its development. Deviations from the norm in the number of chromosomes are responsible for the majority of miscarriages in the first trimester of pregnancy and the failure of the IVF procedure.
The PGT-A test allows the identification of aneuploidies, i.e. Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome and others, and the selection of a healthy and most promising embryo for transfer.
The Gyncentrum Genetic Laboratory has state-of-the-art human genome sequencing technology for testing embryos. It makes it possible to detect, at a very early stage of embryo development, chromosomal abnormalities with unprecedented accuracy. In addition to PGT-A, the Gyncentrum Genetic Laboratory also performs other preimplantation genetic tests, including niPGT-A, PGT-M, PGT-SR and Karyomapping.
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ABOUT THE STUDY
What is PGT-A all about?
The test involves analyzing the genetic material of an embryo isolated from trophoectoderm cells taken on the fifth day, the part from which the placenta develops in the later stages of pregnancy. The embryo’s DNA is tested in a genetics laboratory using NGS (next-generation sequencing) technology. After receiving the test results, specialists decide which embryos can be used in the IVF procedure. The PGT-A test makes it possible to select a genetically healthy embryo for transfer. This creates a better chance that the in vitro fertilization procedure will be successful and the baby that will be born will be healthy.
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Who should take the PGT-A test?
Most embryos affected by aneuploidies, or abnormalities in the number of chromosomes, die already in the first trimester of pregnancy due to spontaneous miscarriage. Sometimes a woman manages to carry the pregnancy, but the baby is born burdened with birth defects such as Down syndrome, Edwards syndrome, Patau syndrome or Klinefelter syndrome. PGT-A is a tool that identifies embryos that have aneuploidies and selects those that are free of them for transfer. The PGT-A test is a chance for couples to get pregnant and have a healthy baby:
- approaching an in vitro fertilization procedure,
- experiencing one or more miscarriages,
- after unsuccessful in vitro fertilization procedures,
- in which the partner is older than 35,
- who have been diagnosed as carriers of genetic diseases,
- from families burdened with genetic diseases, in which the disease became clinically apparent,
- after treatment for cancer in the past
ANEUPLOIDIE
What are aneuploidies?
We speak of aneuploidy when the basic set of chromosomes characteristic of a species, or karyotype, is enriched or lacking at least one chromosome. Thus, the cells of such an organism contain a higher or lower number of chromosomes relative to the normal state. Aneuploidies most often arise from the erroneous divergence of chromosomes during cell division (meiosis). Their presence is unfortunately associated with the occurrence of serious birth defects in the child, but most often results in spontaneous miscarriage.
Make an appointmentExamples of aneuploidy
Trisomy: is the presence of an extra third chromosome in a given homologous pair (in genetics is denoted as 2n+1). In humans, trisomy of chromosome 21 is the cause of Down syndrome, chromosome 18 is the cause of Edwards syndrome, while 13 is the cause of Patau syndrome.
Monosomy: is the absence of one chromosome from a given pair (denoted as 2n-1 in genetics). Monosomy often results in the death of the embryo at an early developmental stage (lethal mutation). In humans, the most common example of monosomy is monosomy of the X chromosome (X0 in the karyotype) responsible for Turner syndrome.
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