Genetic Screening (PGD/PGS)

Genetic screening is a powerful procedure that allows embryos to be screened for abnormalities in the DNA, translocations, or for the presence of an inherited genetic disease.  By knowing this information before the embryos are placed back into the uterus, we can avoid transferring abnormal embryos which may reduce the chance for miscarriage or prevent the need for therapeutic abortion of a baby with a serious genetic disease.

Pre-implantation Genetic Diagnosis (PGD) refers to the testing performed to determine if a genetic mutation has been passed down from the parents to the child/embryo.  This includes single gene mutations and chromosomal translocations.

Currently, there are more than 100 diseases that can be detected by PGD.  Below are some examples of genetic diseases  diagnosed by using PGD:
  • Cystic Fibrosis
  • Beta-Thalassemia
  • Sickle Cell Anemia
  • Tay-Sachs Disease
  • Duchenne's Muscular Dystrophy
  • Chromosome translocation 

Pre-implantation Genetic Screening (PGS) refers to the testing performed to determine if embryos have extra or missing chromosomes.  Embryos with chromosomal abnormalities generally do not result in a live birth.

 We  provide services for both PGD and PGS.  Briefly, the PGD/PGS procedure is as follows:

1) A small opening is made in the outer covering of the embryo (the zona pellucida) and one or more cells (depending on the day of biopsy) is removed.
2) The cells are sent to an outside laboratory, where the DNA of the cells is analyzed
3) The results are reviewed by your physician and the embryologists

4) Any normal (non-affected) embryos are either transferred to the patient or cryopreserved for future use

Although PGS/PGD is an extremely powerful tool, it cannot detect all genetic abnormalities, nor does it guarantee that the embryos will result in a live birth.  Prior to undergoing PGS/PGD, counseling and informed consent is required. 

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