Reprogenetics announces first live births following use of novel Karyomapping technique in embryos produced through in vitro fertilization
Reprogenetics, one of the largest U.S. genetics laboratories specializing in Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD), has 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.
“Karyomapping represents an important development in the PGD field for affected families as the preparation for testing is significantly accelerated enabling the patient to move quickly through the IVF process with confidence that a genetic disease in their offspring will not be a concern,” says Santiago Munné, Ph.D., Founder and Director of Reprogenetics. “We congratulate the parents on their new additions, and continue to explore the potential of Karyomapping so this technology may benefit more families.”
“Karyomapping can offer a comprehensive assessment of each chromosomal region compared to conventional methodologies, allowing for faster and complete diagnosis,” says Jamie Grifo, M.D., Director, Division of Reproductive Endocrinology at the New York University School of Medicine. “Karyomapping is found to be especially beneficial for patients of advanced reproductive age since it reduces the time patients have to wait before initiating their IVF cycle to an absolute minimum, or for complex cases such as those involving diagnosis of more than one genetic condition.”
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.
To date, Reprogenetics has assessed more than 60 genetic disorders via Karyomapping, and more than 150 PGD attempts have been performed evaluating hundreds of embryos. Recently, multiple studies demonstrating the accuracy and benefits of Karyomapping have been published by Reprogenetics scientists and others in peer-reviewed scientific journals and presented at international conferences.