Reprogenetics, one of the largest U.S. genetics laboratories specializing in Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD), recently announced the arrival of the first babies born worldwide following the use of Karyomapping technology. This new approach allows PGD of most single gene disorders in embryos produced through in vitro fertilization (IVF). Karyomapping has substantially reduced the wait time for IVF cycle initiation, allowing for establishment of a healthy pregnancy in a shorter period of time versus conventional diagnostic methodologies that require lengthy development of patient-specific tests.
Karyomapping examines approximately 300,000 different points, or single nucleotide polymorphisms (SNPs), across the entire human genome. These SNPs identify a DNA fingerprint unique to the chromosome region that carries a mutated gene associated with a particular genetic disorder. This fingerprint can determine the presence or absence of the mutation in a biopsied embryonic cell with high accuracy; only embryos predicted to be free from the genetic disorder are then transferred to a woman’s uterus for initiation of pregnancy.
This new technique allows for specimen banking that gives couples the option of undergoing an IVF cycle while test creation is ongoing. With conventional PGD methods, couples typically must wait several months before they can begin IVF and initiate testing. Additionally, Karyomapping is compatible with comprehensive chromosome screening that many women age 35 and older with an elevated risk of producing chromosomally abnormal embryos (i.e., conditions such as Down syndrome) choose to add to their test.
The majority of couples at risk of transmitting inherited disorders are excellent candidates for Karyomapping as it can be used for PGD of any genetic abnormality caused by a mutation in a recognized gene, including common genetic disorders such as cystic fibrosis and fragile X syndrome.
Learn more on the Reprogenetics website
