We believe making informed choices about a family’s reproductive health starts with preconception genetic screening. Through preconception testing, parents-to-be may determine if they’re at risk to pass on a genetic condition to their children. The Illumina preconception portfolio for prospective parents currently includes the Cystic Fibrosis 139-Variant Assay, an FDA-cleared in vitro diagnostic which has intended uses that include carrier screening of adults of reproductive age.
For couples that experience infertility, such as difficulty conceiving or recurrent pregnancy loss, chromosomal abnormalities may be a contributing factor. There are 2 primary options for preimplantation genetic testing of embryos during IVF: preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS screens embryos for aneuploidy, an abnormal number of chromosomes, to enhance the chances of a successful IVF pregnancy. PGD is used to assess embryos to help prevent the transmission of an inherited genetic condition to a child.
*Names have been changed to protect the privacy of the family.