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Preimplantation Genetic Testing (PGD/PGS/PGT-A)

PGD/PGS/PGT-A: A Boon for Couples with Genetic Issues

Preimplantation Genetic Testing (PGT) is an advanced IVF procedure used to identify genetic conditions or chromosomal abnormalities in embryos before implantation. By selecting healthy embryos, PGT improves the chances of a successful pregnancy and a healthy baby. It includes two main techniques: PGD (diagnosis) and PGS (screening), with PGT-A being a more refined form of aneuploidy testing.

What is PGD, PGS, and PGT-A?

  • PGD (Preimplantation Genetic Diagnosis): Used to detect specific genetic disorders in embryos, especially when there’s a family history of inherited diseases.
  • PGS (Preimplantation Genetic Screening): Focuses on identifying chromosomal abnormalities (e.g., missing or extra chromosomes), reducing risks of miscarriage or failed implantation.
  • PGT-A (Preimplantation Genetic Testing for Aneuploidy): A more advanced screening that ensures only chromosomally normal embryos are transferred.

When is PGD/PGS/PGT-A Recommended?

  • Couples with a history of inherited genetic disorders
  • Women of advanced maternal age (35+)
  • Recurrent pregnancy loss or repeated IVF failures
  • Severe male factor infertility
  • When screening for aneuploidy to increase implantation success

Benefits of PGT-A

  • Higher implantation and conception rates
  • Reduced risk of miscarriage
  • Minimized risk of genetic conditions in the baby
  • Lower chance of multiple pregnancies by transferring one healthy embryo
  • Cost and time-saving by reducing repeated IVF cycles

PGT-A vs PGT-M

PGT-A checks for chromosomal abnormalities (aneuploidy), ensuring embryos have the correct number of chromosomes (46). This reduces risks of conditions such as Down Syndrome (extra chromosome 21) or Turner Syndrome (missing an X chromosome).
PGT-M detects single-gene mutations that can lead to inherited disorders, helping prevent transmission of genetic diseases to the child.

Step-by-Step Process of PGT

  • Initial Consultation: A fertility specialist evaluates suitability for PGT.
  • Ovarian Stimulation: Hormonal medications stimulate egg production.
  • Fertilization: Retrieved eggs are fertilized with sperm in the lab.
  • Embryo Development: Embryos are cultured until the blastocyst stage (day 5–6).
  • Biopsy: A few cells are extracted from each embryo for testing.
  • Genetic Testing: The biopsied cells undergo genetic analysis.
  • Embryo Selection: Chromosomally normal embryos are selected for transfer.

Expert Consultation