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Pre-implantation Genetic Screening and Diagnosis

Last updated 6 years ago

Certain genetic conditions can interfere with embryo implantation or cause miscarriages. Other conditions may result in pregnancy complications, or the birth of a child with physical, mental, or developmental problems. Fortunately, FCI offers pre-implantation genetic screening and pre-implantation genetic diagnosis to help reduce the risk of a chromosomally abnormal fetus, or of passing a genetic abnormality onto a baby.

What is Pre-Implantation Genetic Screening (PGS)?
Pre-implantation genetic screening (PGS) refers to a state-of-the-art procedure used in conjunction with IVF treatment to select embryos free from chromosomal abnormalities. Embryos are grown to an advanced stage of development, and cells are taken from the future placenta for analysis. All 23 pairs of chromosomes are assessed, and only those with 2 of each pair are used for eventual transfer or cryopreservation.

Who is a Candidate for PGS?
Primary candidates for pre-implantation genetic screening may include:

  • Couples with previous chromosomally abnormal fetuses
  • Couples with recurrent miscarriages
  • Male partners with severe male-factor infertility
  • Women of an advanced maternal age
  • Couples who wish to maximize their chances of successful IVF

What is Pre-Implantation Genetic Diagnosis (PGD)?
Pre-implantation genetic diagnosis refers to a state-of-the-art procedure used in conjunction with IVF treatment to select embryos which are free from specific genetic diseases or structural chromosomal abnormalities. It is not a screening tool. As with PGS, cells from the future placenta are taken from the embryo and analyzed for the presence or absence of a specific abnormal gene. The embryos may be affected carriers, or unaffected. Only those that are not affected would be transferred or kept frozen.

Who is a Candidate for PGD?
Primary candidates for pre-implantation genetic diagnosis may include:

  • Carriers of autosomal recessive or dominant diseases
  • Couples with a family history of an X-linked disorder
  • Couples with a structural chromosomal abnormality, like a translocation

How are Screening Methods Implemented?
In order to undergo pre-implantation genetic screening, patients must undergo IVF treatment. PGS can only be performed within the context of an IVF cycle wherein the eggs and sperm develop into embryos during laboratory fertilization. Once the eggs have been harvested and fertilized to become developed embryos, they can be biopsied to identify certain genetic abnormalities. The most advanced, reliable method of PGS or PGD uses trophectoderm biopsy (cells taken from the region of the blastocyst destined to become placenta) and either aCGH (array comparative genomic hybridization) or MA (microarray), which assess all the chromosomes with the greatest degree of accuracy. FCI is one of only a limited number of IVF laboratories equipped to perform these procedures.

Find out more about PGS/PGD and your options by contacting the fertility specialists at Fertility Centers of Illinois. Call (877) 499-8730 or visit our website to schedule a consultation.

Fertility Centers of Illinois (FCI) is recruiting patients for a research study evaluating pregnancy and implantation & rates in women undergoing In Vitro Fertilization (IVF) and Pre-implantation Genetic Screening (PGS). If you feel you qualify and would like to be contacted about this study, please complete the study eligibility questionnaire and return the completed form to FCI.


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