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Pre-implantation Genetic Screening

Preimplantation Genetic Diagnosis (PGD) or Screening (PGS)

Preimplantation Genetic Diagnosis (PGD) or Screening (PGS) refers to testing that is performed on embryos prior to transfer to the uterus or on oocytes prior to fertilization. Mount Sinai Services was the first lab in Canada to offer aCGH Preimplantation Genetic Screening (PGS), which screens embryos for chromosomal abnormalities in all 24 chromosomes using an advanced microarray technology. The aCGH (array comparative genomic hybridization) originally introduced for comprehensive chromosome screening has now been replaced by newest technology – NGS (Next-Generation Sequencing).

Who should consider having PGS?

Even in younger couples, up to half of a woman’s eggs may carry chromosomal abnormalities. PGS can effectively identify chromosomally normal embryos, which may help to increase the chance of IVF success. PGS is suitable for all patients, but can be particularly useful for those whose pregnancies are at higher risk. For example:

  • Women of advanced maternal age (35 or over)
  • Couples who have had recurrent miscarriages that are otherwise unexplained
  • Couples who have experienced several failed IVF cycles
  • Couples who have had a prior pregnancy with a chromosome abnormality
  • Men with infertility requiring intracytoplasmic sperm injection (ICSI)
  • Men with positive aneuploidy sperm screening
  • Couples where at least one partner has aneuploidy mosaics
  • Couples where at least one partner is a carrier of a structural chromosomal rearrangement

What is Preimplantation Genetic Screening?

Types of Screening

Why are chromosomes important in fertility?

How do we use PGS technology?

Why was aCGH PGS a better first approach?

Successes using aCGH PGS

NIPT PGS/PGD

PGS/PGD Test Ordering

Please read the instructions carefully, and complete/submit forms as indicated.

Instructions