PGS (Preimplantation Genetic Screening) and PGD (Preimplantation Genetic Diagnosis) are advanced techniques used in conjunction with in vitro fertilization (IVF) to assess the genetic health of embryos before implantation. While both techniques involve genetic testing of embryos, they serve different purposes and are used in specific situations:

1. *PGS (Preimplantation Genetic Screening)*:–

• PGS is a procedure used to screen embryos for chromosomal abnormalities, such as aneuploidy (abnormal number of chromosomes).
• The primary goal of PGS is to identify embryos with the correct number of chromosomes, increasing the chances of successful implantation and reducing the risk of miscarriage.
• PGS is commonly recommended for couples with a history of recurrent miscarriages, advanced maternal age, repeated IVF failure, or a known risk of chromosomal abnormalities.

2. *PGD (Preimplantation Genetic Diagnosis)*:

• PGD is a procedure used to diagnose specific genetic disorders or inherited genetic conditions in embryos.
• PGD involves testing embryos for known genetic mutations or abnormalities that may be present in the family or that increase the risk of inherited diseases.
• PGD is particularly beneficial for couples who are carriers of genetic disorders, have a family history of genetic conditions, or are at risk of passing on a genetic disease to their offspring.
• Common genetic conditions screened for with PGD include cystic fibrosis, sickle cell disease, Huntington’s disease, and certain types of muscular dystrophy.

The process of PGS and PGD involves obtaining one or more cells from the embryo, typically through a biopsy procedure performed on day 5 or 6 of embryo development. These cells are then analyzed using advanced genetic testing techniques to assess chromosomal or genetic abnormalities.

After testing, only embryos that are determined to be chromosomally normal (in the case of PGS) or free from the specific genetic mutation or condition (in the case of PGD) are selected for transfer into the uterus during IVF.

PGS and PGD offer valuable opportunities to improve the success rates of IVF, reduce the risk of miscarriage, and prevent the transmission of genetic disorders to offspring. However, couples need to discuss the benefits, limitations, and ethical considerations of these procedures with their healthcare providers before undergoing genetic testing during IVF.

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