Improving outcomes with PGD

Preimplantation Genetic Diagnosis (PGD)

Preimplantation genetic diagnosis (PGD) assesses embryos to help prevent the transmission of an inherited genetic disorder to children. If parents-to-be are concerned about passing on a genetic condition to their children due to known carrier status, personal history of a balanced reciprocal translocation, or a family history of a genetic condition, they may want to pursue PGD in conjunction with IVF.

Karyomapping, our rapid PGD solution for single gene disorders, provides an informative and reliable assay for couples interested in PGD.

Preimplantation genetic diagnosis

Watch how couples concerned about the risk for their future children to inherit a genetic disorder can undergo IVF with PGD for most single-gene disorders.

Preimplantation genetic diagnosis: 25 years of changing lives
The benefits of preimplantation genetic diagnosis

By identifying IVF embryos that most likely do not carry a particular genetic disorder*, PGD can:

  • Enable the transfer of embryos most likely to be unaffected
  • Reduce a genetically at-risk couple’s chances of passing a known genetic condition onto their offspring1,2
  • Reduce the risk of miscarriage due to structural chromosomal abnormalities2,3
Preimplantation genetic diagnosis methods

Click on the below to view details about single-gene condition and translocation diagnosis methods.

Single-gene condition

A couple may be interested in PGD if they are concerned about passing on a known single-gene condition to their children due to one of the following reasons:

  • Known carrier status for one or both parents
  • Previous child or pregnancy affected with a single-gene condition
  • Family member with a single-gene condition
PGD for single gene disorders
Karyomapping: A New PGD Technique

Karyomapping screens embryos for single-gene conditions from a single embryonic cell. Embryos that have not inherited the defective gene can be identified and considered for transfer.*

Genetic screening with karyomapping offers:

  • Faster results due to an ultra-rapid workflow compared to current single tandem repeat (STR) technology4
  • Minimal preparation - no disease or patient-specific workup needed4
  • Wide coverage - available for use with most single-gene conditions4
  1. If both parents carry a mutation for cystic fibrosis, there is a 1 in 4 chance that their offspring will have the disease.
  2. Using knowledge of CF carrier or disease status in the parents, scientists can look at the chromosome segment in which the gene lies to determine from which parental chromosome the gene originated.
  3. Scientists can then determine whether the chromosome segment inherited by each embryo contains the normal or mutated copy of the CF gene.
  4. This helps determine whether the embryo inherited a single mutation from either parent and will be an unaffected carrier, whether the embryo inherited a mutation from each parent and will be affected with CF, or whether the embryo did not inherit any mutations. If the embryo is likely unaffected, it is considered to be a good candidate for transfer.
How Karyomapping Works

Translocations occur when a segment of one chromosome breaks off and reattaches to another chromosome. If there is no gain or loss of genetic material, it is called a balanced translocation.

Individuals who carry balanced translocations may not have any signs or symptoms. Approximately 1 out of every 500–600 people in the general population carry a translocation.4-5 Individuals who carry a balanced translocation may experience recurrent pregnancy loss or infertility. They are also at higher risk for having children with birth defects, intellectual disabilities, and other conditions.

Preimplantation Genetic Diagnosis for Translocations

Carriers of balanced translocations are at risk of creating egg or sperm cells (gametes) with unbalanced versions of their translocation. Through PGD, it is possible to identify embryos with chromosomal imbalances so that embryos that are least likely to be affected are considered for transfer in an IVF cycle.

Inheritance of Unbalanced Translocations

PGD can be used to screen embryos for unbalanced translocations and help to identify those with normal chromosomal complement for transfer. This can be done through the use of microarrays.

Our microarrays are designed to make thousands of independent measurements of the chromosomes at the molecular level. From this data, laboratory scientists can accurately characterize many structural imbalances found within an embryo’s chromosomes. Embryos most likely to carry normal chromosomes can then be chosen for implantation, improving the chances of a successful IVF cycle.

Preimplantation Genetic Diagnosis Using Microarrays
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*No test has 100% detection rate and/or 0% false positive rate. Each laboratory is responsible for establishing test performance.

  1. American Society for Reproductive Medicine. Frequently asked questions about infertility. ReproductiveFacts. Org Website Accessed April 4, 2016.
  2. Fiorentino F, Spizzichino L, Bono S, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26(7):1925–1935.
  3. Ogilvie CM, Scriven PN. Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. Eur J Hum Genet. 2002;10(12):801–806.
  4. Natesan S, Bladon AJ, Coskun S, et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet Med. 2014;(January):1–8.
  5. Tobias, et al. Essential Medical Genetics, 6. 2011 Wiley-Blackwell.