The availability of preimplantation genetic testing (PGT), previously known as preimplantation genetic diagnosis (PGD), for hereditary cancer syndromes like BRCA1 and BRCA2 or Lynch syndrome is fairly universal these days. Even five years ago, however, many healthcare...
Part of a genetic counselor’s job is to take a family history. This record of the family’s medical history typically goes back for at least three generations. It is designed to track disease through a family, providing enough information from each generation to help...
Infertility is common, affecting about 1 in 6 couples. Often, infertility is considered an issue that mostly affects women (defined here as biological females). Women are the ones who carry a pregnancy, give birth to a child, and many assisted reproductive technology...
Have you heard of embryo donation? Here’s how it works: individuals who create embryos with in vitro fertilization may altruistically donate their excess embryos to others with infertility. Embryo donation programs (like ORM’s) make donated embryos available to...
Twenty years ago, carrier screening options were simple. Genetic counselors were to offer screening tests from a handful of reference laboratories based on what the patient believed their ethnicity to be: Caucasians were screened for cystic fibrosis, African-Americans...
As its performed today, in vitro fertilization (IVF) relies on the visual assessment and grading of embryos by experienced embryologists to determine which ones are best to implant. This process has been the gold standard since IVF began, but it is widely acknowledged...
For patients undergoing in vitro fertilization (IVF), preimplantation genetic testing for aneuploidy (PGT-A) can be offered to screen their developing embryos for chromosomal abnormalities prior to implantation. This technology may decrease the time to achieve a...
As today’s workforce changes, so too do the benefits that employers offer. Employers still want to offer benefits and perks that attract, inspire, reward, and retain the right workers. But corporate discounts to the gym or opportunities to work from home are no longer...
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...
Sean and Sharon had an idyllic first pregnancy. Their son, born in March 2016, was a healthy baby boy. Due to a family history concern, the couple had asked for genetic testing during this pregnancy. They ended up having sequential screening, which looks for...
Ever since high school, Jonathan Katz wanted to undergo genetic testing. Jonathan is of Eastern European Jewish descent and was aware of the increased frequency of certain genetic conditions in people of Jewish ancestry. Jonathan’s brother eventually introduced him to...
