Preimplantation Genetic Diagnosis (PGD) Services 

Preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) are genetic testing procedures for screening embryos. The procedures offer couples who are likely to pass on a genetic abnormality, the possibility to become biological parents with minimal risk. It involves checking the genes and/or chromosomes of embryos created through In Vitro Fertilization (IVF).

PGS evaluates embryos for chromosomal abnormalities to make sure that they have the right number of chromosomes, having no extra or missing chromosome. PGD screens single-gene defects that may cause genetic disorders such as Thalassemia, Sickle cell anemia, Thrombophilia.

 

IVF

PGD and PGS require one extra step; the IVF treatment. During the IVF process, eggs removed from the ovaries and fertilized with sperm in the laboratory. Once the eggs have been fertilized and embryonic development begins, the embryologist performs an embryo biopsy, and genetic specialists determine which embryos carry a genetic anomaly and which are normal.

Who are the recommended cases for PGD/PGS/IVF?

  • Sickle cell anemia, Thalassemia and single- gene disorders with confirmed pathogenic mutation 

  • If the affected gene is known, a custom PGD protocol will be designed and implemented 

  • If the affected gene is unknown to the couple, whole-exome sequencing will be offered to them to maximize the chances of identifying the underlying mutation 

  • Recurrent Abortions/Miscarriages (Normal karyotype) 

  • Recurrent IVF failure (2/3 or more) 

  • Advance Maternal Age (>35/38) 

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