Preimplantation Genetic Diagnosis (PGD)

If you are exploring family building options such as in vitro fertilization (IVF), surrogacy, or egg, sperm or embryo donation, you can have your embryos screened for genetic problems.

PGS for Gender Selection

Preimplantation genetic screening (PGS) screens embryos for chromosomal abnormalities, such as extra or missing chromosomes. PGS is also used for family balancing through gender selection.

PGD for Genetic Disorders

Preimplantation genetic diagnosis (PGD) screens for single-gene defects that may cause genetic disorders.

Many women who use IVF are in their advanced maternal years – 35 or older – and their age places them at increased risk for conceiving a child with Down syndrome or other chromosomal disorders.

Doctors at the Kofinas Fertility Group Clinics & Hospital may recommend PGD for women who:

  • Have had two or more miscarriages
  • Have had two or more unsuccessful IVF attempts (two separate cycles)
  • Are over 35 and have had at least one miscarriage
  • Have had multiple miscarriages or failed IVF attempts

PGD screens for single-gene defects that may cause genetic disorders, including:

  • Cystic fibrosis
  • Down syndrome
  • Hemophilia
  • Huntington’s disease
  • Muscular dystrophy
  • Sickle cell anemia
  • Marfan syndrome
  • Tay-Sachs disease

PGD is also used by couples at risk of passing on inheritable genetic diseases to their embryos.

PGS/PGD involves testing of six to seven cells of a blastocyst stage embryo which was created via IVF. The blastocyst (day five or day six) stage embryos have hundreds of cells. Six to seven cells are removed from the trophectoderm of the blastocyst and are tested in the genetics laboratory for genetic abnormalities. At this early stage of development all embryonic cells within a single embryo have the same genetic makeup and potential for development; they simply continue to divide without the removed cells.