PGD TRS is dedicated to all patients diagnosed with reciprocal translocations i.e., exchanges of genetic material between different chromosomes. Such mutations are detected by karyotype testing. Potential parents may not even present any symptoms of such mutations, but there is a high risk of serious defects affecting their offspring. Preimplantation genetic diagnosis, as part of the in vitro process, makes it possible to determine the genetic status of embryos and to transfer only such embryos that have balanced genetic material. It significantly increases chances of pregnancy and delivery of a healthy child. In this situation application of NGS technique is a guarantee of the highest possible quality.
Next generation sequencing (NGS) has now become a precise and comprehensive genetic analysis tool that is being increasingly used in medicine. The NGS is rapid, highly accurate, robust, sensitive, easily reproducible, and cost-effective. Thanks to all these advantages NGS is on the way to replace other techniques as the predominant method used for preimplantation genetic diagnosis.
INVICTA NGS methodology gives our patients an opportunity to take advantage of our comprehensive genetic analysis that can detect monogenic diseases and chromosomal aberrations. We can screen not only for 24 chromosomes aneuploidy and monogenetic diseases but also for all types of chromosomal translocation – now also including reciprocal translocations.
There are two common types of translocations: Robertsonian translocations formed by abnormal breakage and joining of two acrocentric chromosomes and reciprocal translocations formed by the exchange of terminal segments between two chromosomes. Chromosomal translocations, when balanced, usually result in normal phenotypes. However, in the germ line, the process of meiosis can lead to a variety of unbalanced translocation derivatives with duplication and deletion of terminal sequences on either side of the breakpoint. Therefore carriers of balanced translocations still carry associated reproductive risks, such as infertility, spontaneous abortion, and the delivery of babies with intellectual disabilities or developmental delays.
INVICTA PGD TRS TM Preimplantation genetic diagnosis for translocation is a method used to identify embryos that have the correct amount of genetic material (balanced) and embryos that have extra or missing genetic material as a result of the translocation (unbalanced). PGD TRS can reduce the likelihood of a failed implantation or an early miscarriage, or of having a child with a chromosomal abnormality thus increasing the chances of a healthy pregnancy after an IVF cycle.
Historically, different strategies based on fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) have been used in PGD for structural chromosomal abnormalities. Although relatively successful, these procedures are technically demanding and harbor several technical limitations that can be overcome by NGS, providing an alternative approach for detection of unbalanced translocation.
The INVICTA PGD TRSTM is recommended for patients with a confirmed presence of a reciprocal translocation. The entire PGD TRS procedure is quick and uncomplicated. Prospective parents do not need to supply material for testing. They only need to provide results of genetic tests confirming translocation carrier status. This makes the test readily available and the process of its preparation for each couple is much quicker.