Preimplantation Genetic Testing (PGT) is a procedure used during in vitro fertilization (IVF) to test embryos for specific genetic conditions or chromosomal abnormalities before they are transferred to the uterus. The goal is to select the healthiest embryos, which have the best chance of resulting in a successful pregnancy.
There are different types of PGT:
- Preimplantation Genetic Testing for Aneuploidy (PGT-A) is a genetic screening performed on embryos created through IVF to detect abnormalities in chromosome number, known as aneuploidies. This test is particularly beneficial for women of advanced maternal age, couples who have experienced recurrent pregnancy loss, or those with multiple failed IVF cycles. By identifying embryos with the correct number of chromosomes, PGT-A helps improve the chances of a successful pregnancy and reduces the risk of miscarriage. Additionally, couples with a history of chromosomal disorders or those opting for elective single embryo transfer can benefit from PGT-A by selecting the healthiest embryo, thereby enhancing the likelihood of a healthy and successful pregnancy.
- Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) is a precise genetic screening technique used during IVF to detect specific mutations in embryos that cause inherited single-gene disorders, such as cystic fibrosis, sickle cell anemia, and Huntington's disease. This testing is especially beneficial for couples who carry known genetic mutations, have a family history of monogenic disorders, or have previously had a child affected by a genetic condition. By identifying and selecting embryos free from these harmful mutations, PGT-M helps reduce the risk of passing on these disorders, offering couples the chance to have a healthy child and minimizing the emotional and medical challenges associated with genetic diseases.
Both PGT-A and PGT-M involve similar processes: IVF is used to create embryos, followed by a biopsy of the embryos at the blastocyst stage. The biopsied cells are then analyzed using techniques like NGS or PCR to detect chromosomal abnormalities or specific genetic mutations. Based on the results, only the healthiest embryos are selected for transfer to the uterus, increasing the likelihood of a successful pregnancy.
PGT is usually recommended for individuals with a known risk of genetic disorders, older women undergoing IVF, those with recurrent miscarriages, or a history of failed IVF cycles. The procedure involves taking a small biopsy from the embryo and analyzing the cells in a lab. Only embryos that pass the testing are considered for transfer to increase the chances of a healthy pregnancy.
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