Benefits & Risks of PGD/PGS (Preimplantation Genetic Testing)

Benefits of PGD/PGS at a glance:

  • Genetic testing such as reimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) can help detect known genetic diseases or chromosomal abnormalities.
  • Identifies abnormal embryos, preventing unhealthy embryos from being transferred to uterus.
  • Reduces multiple pregnancy risk by identifying healthy embryos for implantation.
  • Decreases risk to couples or individuals with serious inherited disorders of having children affected with same problem.

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Risks of preimplantation genetic testing (PGD/PGS)

  • PGD and PGS require in vitro fertilization (IVF), which involves risks of ovarian hyperstimulation syndrome, multiple pregnancy, and increased risk of birth defects not related to the genetic test.
  • Risk of biopsy or freezing harming the embryo(s).
  • False negative results could mean an abnormal embryo is transferred to the uterus, resulting in a possible miscarriage, and healthy embryos are discarded, limiting chances of a healthy pregnancy.
  • Test could reveal there are no normal embryos to transfer.
  • Tests do not screen for all possible genetic diseases or disorders, so a healthy baby is not guaranteed from a tested embryo.

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PGD/PGS alternatives

  • Chorionic villus sampling (CVS) is a biopsy of the placenta 10-12 weeks into the pregnancy that can diagnose fetal genetic abnormalities. If an abnormality is detected, abortion may be considered.
  • Amniocentesis is a procedure performed 16 to 18 weeks into pregnancy that analyzes the amniotic fluid to check for fetal genetic abnormality. If one is detected, terminating the pregnancy may be considered.
  • Ultrasound, accompanied by blood tests, during pregnancy may also be able to detect abnormalities. However, CVS or amniocentesis may be recommended to confirm a suspected diagnosis.
  • If the risk of inherited disease is very high, donor eggs or donor sperm can also be used.