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.
By identifying IVF embryos that most likely do not carry a particular genetic disorder*, PGD can:
Click on the below to view details about single-gene condition and translocation diagnosis methods.
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:
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:
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.
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.
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.
*No test has 100% detection rate and/or 0% false positive rate. Each laboratory is responsible for establishing test performance.