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Preimplantation Genetic Testing for Aneuploidy (PGT-A) is an advanced genetic screening technique used in assisted reproductive technology (ART), particularly during in vitro fertilization (IVF). PGT-A is used to screen embryos for chromosomal abnormalities before they are implanted into the uterus. The primary goal is to select genetically healthy embryos that have the correct number of chromosomes, increasing the chances of a successful pregnancy and reducing the risk of miscarriage and genetic disorders.
Aneuploidy refers to an abnormal number of chromosomes in a cell. The human body typically has 46 chromosomes, organized into 23 pairs. Aneuploidy occurs when there is a gain or loss of chromosomes, which can lead to conditions like Down syndrome (Trisomy 21), Turner syndrome (Monosomy X), or other genetic abnormalities. Embryos with an abnormal chromosome number may fail to implant, result in miscarriage, or lead to genetic disorders.
After fertilization via IVF, embryos are cultured for several days (usually Day 5 or Day 6, when they reach the blastocyst stage).A small sample of cells (usually trophectoderm cells) is taken from the outer layer of the embryo in a process called embryo biopsy.This biopsy is minimally invasive, and the embryo remains intact after the procedure.
The biopsied cells are then tested for chromosomal abnormalities.The most common method of analysis is Next-Generation Sequencing (NGS), which can identify whether the embryo has the correct number of chromosomes (euploid) or if it has extra or missing chromosomes (aneuploid).
PGT-A increases the likelihood of a successful pregnancy by selecting embryos with the correct number of chromosomes, which are more likely to result in implantation and a healthy pregnancy.
Women of advanced maternal age (typically over 35 years), as the risk of chromosomal abnormalities increases with age.Couples with a history of recurrent miscarriage or failed IVF cycles.Individuals with a family history of genetic disorders. Couples undergoing IVF who want to ensure they are transferring genetically healthy embryos.Couples with multiple embryos available from IVF and seeking the best chance of a healthy pregnancy.