PGT for Congenital Adrenal Hyperplasia
What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is an inherited hormone disorder that affects children and adults worldwide. The most common form of CAH is estimated to occur in 1 in 15,000 newborns and is the type discussed here. In...
PGT for Genetic Prion Disease
What is genetic prion disease? Prion diseases are a group of rare, degenerative neurological disorders caused by changes in proteins normally found in the brain, called prions. The exact role of prion protein is unknown, but it is believed to be important to the...
Choosing to Transfer Embryos with Positive PGT Results
People that pursue preimplantation genetic testing for monogenic disorders (PGT-M) with in vitro fertilization (IVF) usually do so to avoid passing down a genetic risk to their biological children. They typically do this by choosing not to transfer embryos found to...
What is Mosaicism?
For families and providers alike, one word can drastically complicate discussions about genetic testing results: “mosaicism.” In biology and medicine, mosaicism refers to a mixture of cells with different genetics within an organism or an embryo, some normal and some...
BRCA Testing…Think It’s Not For You? Think Again
Ever since Angelina Jolie shared with the world her BRCA status and her choice to undergo a prophylactic mastectomy, a growing number of women have asked: “Should I have BRCA testing too?” BRCA1 and BRCA2 are the genes that cause the two most common hereditary breast...
PGT for Hereditary Breast and Ovarian Cancer Syndrome
What is Hereditary Breast and Ovarian Cancer syndrome? While most cancer happens by chance (i.e. sporadic), about 5-10% of cancers are caused, in part, by inheriting a genetic variant from a parent that increases the risk for certain cancers over a person’s lifetime....
Are Adults Conceived Using Assisted Reproductive Technology At Higher Risk for Health Problems?
Background The option to conceive a child using assisted reproductive technology (ART), including in vitro fertilization (IVF), became available in the late 1970s. This means that the first children to be born following conceptions using ART are now in their forties....
Research Update – How Does Trophectoderm Biopsy Affect Newborns?
The use of preimplantation genetic testing (PGT) on embryos both for monogenic disorders (PGT-M) and for aneuploidy (PGT-A) has rapidly increased over the last decade. Based on preliminary data from the 2017 SART National Summary Report, 36% of all in vitro...
Maternal Effects of Trophectoderm Biopsy
The use of preimplantation genetic testing (PGT) both for monogenic disorders (PGT-M) and for fetal aneuploidy (PGT-A) has rapidly increased over the last decade. Based on preliminary data from the 2017 SART National Summary Report, 36% of all in vitro fertilization...