Preimplantation Genetic Testing (PGT) is a specialized set of genetic tests that can be performed during the IVF (In Vitro Fertilization) process to assess the genetic health of embryos before they are transferred to the uterus. PGT serves multiple purposes, including identifying aneuploidies (abnormal chromosome numbers), detecting monogenic disorders (single gene mutations), and examining structural rearrangements of chromosomes. In recent years, Next Generation Sequencing (NGS) has revolutionized the accuracy and reliability of PGT. This guide will provide an overview of PGT-A, PGT-M, PGT-SR, and the role of NGS in these tests.
At Izmir IVF Clinic, we are committed to providing the highest level of care, ensuring your journey towards a healthy pregnancy is as smooth and informed as possible. If you have any questions or would like to learn more about PGT-A, PGT-M, PGT-SR, and other genetic tests, please don’t hesitate to contact us.
We are here to support you every step of the way.
PGT-A is a genetic test that aims to identify embryos with abnormal chromosome numbers. Aneuploidy can lead to developmental issues, miscarriages, or the birth of a child with genetic conditions such as Down syndrome. NGS enhances the accuracy of PGT-A by providing comprehensive information about all chromosomes. Here’s how PGT-A with NGS works:
Biopsy: A small number of cells is removed from each embryo during its early development (usually at the blastocyst stage, around day 5 or 6).
NGS Analysis: The extracted cells are analyzed using NGS technology to determine if the embryo has the correct number of chromosomes.
Selection of Healthy Embryos: Only embryos with the appropriate chromosome count are considered for transfer to the uterus.
PGT-M is a test designed to identify embryos carrying a specific single-gene mutation that can cause genetic disorders like cystic fibrosis or sickle cell anaemia. NGS enhances the accuracy of PGT-M by providing a more comprehensive assessment of the targeted gene. Here’s how PGT-M with NGS works:
Gene-Specific Testing: A specific gene associated with the genetic disorder in question is analyzed.
Biopsy: Cells are extracted from the embryos to check for the presence or absence of the gene mutation.
NGS Analysis: NGS technology provides a detailed analysis of the gene, ensuring the most accurate results.
Selection of Healthy Embryos: Only embryos without the harmful gene mutation are considered for transfer.
PGT-SR is performed when one or both parents have structural chromosome rearrangements (such as translocations or inversions) that may result in unbalanced chromosomal content in the embryos. NGS enhances the accuracy of PGT-SR by providing a comprehensive assessment of chromosome structure. Here’s how PGT-SR with NGS works:
NGS Analysis: Chromosomes are analyzed to detect structural rearrangements in the embryos.
Biopsy: Cells are extracted to determine whether the embryos are affected by these rearrangements.
Selection of Healthy Embryos: Only embryos with balanced chromosome content are considered for transfer.
1. PGT, with the use of NGS, offers a highly accurate and comprehensive assessment of embryos’ genetic health.
2. It can significantly reduce the risk of passing on genetic disorders to your child.
3. PGT is not always necessary, and its use depends on individual circumstances and medical history.
Before considering PGT with NGS, we recommend scheduling a consultation with our team of reproductive specialists. We will discuss your specific circumstances, potential risks, and the advantages of these advanced techniques. Your personalized treatment plan will be tailored to your unique needs and objectives.
