Preimplantation Genetic Testing

Preimplantation Genetic Testing (PGT) is a sophisticated and invaluable reproductive technology designed to assess the genetic makeup of embryos before their implantation during In vitro Fertilization (IVF). This cutting-edge procedure plays a pivotal role in preventing the transmission of hereditary disorders from parents to their offspring. PGT encompasses various testing methods, including PGT-A (aneuploidy screening), PGT-M (monogenic disorder screening), and PGT-SR (structural rearrangement screening), each tailored to address specific genetic concerns. Initially developed to enhance the success rates of assisted reproductive techniques, PGT-A focuses on identifying chromosomal abnormalities within embryos, thereby reducing the likelihood of implanting embryos with numerical deviations, such as trisomies or monosomies. PGT-M, on the other hand, caters to families with a known history of single-gene disorders by meticulously analyzing the embryos for specific genetic mutations. PGT-SR is employed when either or both partners exhibit structural chromosomal abnormalities, allowing for the identification and selection of embryos without such anomalies. The PGT process typically begins with IVF, where mature eggs are retrieved from the female partner and fertilized with sperm in a laboratory setting. Following fertilization, embryos undergo development for a few days until they reach a stage suitable for biopsy. A small number of cells are then carefully extracted from each embryo, and their genetic material is analyzed. This involves advanced molecular techniques, such as polymerase chain reaction (PCR) and next-generation sequencing (NGS), to scrutinize the DNA for abnormalities.