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Preimplantation Genetic Testing (PGT)
Preimplantation genetic testing (PGT) is a screening test performed on embryos created via in vitro fertilization (IVF) for chromosomal and genetic abnormalities prior to transfer to optimize pregnancy with strong and healthy embryos.
1. PGT-A (Preimplantation Genetic Testing for Aneuploidy) A person typically has 46 total chromosomes or 23 pairs of chromosomes, with 22 pairs of body chromosomes and one pair of sex chromosomes. An extra copy or a missing copy of chromosome can cause physical and intellectual disabilities. PGT-A (Preimplantation Genetic Testing for Aneuploidy) screens all 23 pairs of chromosomes for abnormalities. With the Next Generation Sequencing (NGS) technology, PGT-A is currently a modern standardized test offering a highly detailed analysis of chromosomes with high accuracy. 2. Preimplantation Genetic Testing for Monogenic Disorder (PGT-M) PGT-M involves testing embryos created through in vitro fertilization (IVF) for monogenic/single gene defects inherited from the father or the mother prior to transfer of unaffected embryos to the uterus. Without the screening, either parent or both parents with genetic defects may pass the defects on to the fetus. There are many single-gene diseases. The common ones include thalassemia, anemia, cystic kidney disease, and BRCA1 or BRCA2 genetic mutations, which cause certain cancers like breast and ovarian cancers.
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