“You Don’t Know What You Don’t Know” and How PGT Can Help When You Do
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...
The Power of Carrier Screening and the Promise of PGT
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...
Six Generations of Genetic Prion Disease Stopped with the Help of PGT
For most of us, there is no single day that defines the course of our lives. No obvious line in the sand delineating the “before” from the “after.” For Amanda Kalinsky, however, there is most assuredly a day - April 22nd, 2009. It was the day she found out she...
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...
Cancer, PGT, and Babies – One Mother’s Journey with a BRCA1 Mutation
Rebecca Hughes was only 31 when she received devastating news. She had Stage 3 ovarian cancer. Due to the aggressive nature of ovarian cancer and the lack of effective screening for potential recurrences, the recommended treatment protocol is a complete hysterectomy...
New Medical Guidelines on Breast-Ovarian Cancer Risk Assessment, Genetic Counseling, and Genetic Testing
October is Breast Cancer Awareness Month, but some of you have breast cancer on your minds all year long. Maybe you’re a breast cancer survivor or your family members have had the disease. Five to ten percent of people with cancer have an inherited form, such as...
SMA – Family Perspectives on Testing, Treatment, and PGT
Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
Community Perspectives on PGT for Sickle Cell Disease
Sickle cell disease (SCD), also called sickle cell anemia, is one of the most common and well-known genetic disorders globally. Preimplantation genetic testing (PGT), in combination with in-vitro fertilization (IVF), provides families with the opportunity to test...
Be Prepared for PGT – What Steps Can I Take Now?
You’ve determined you’re a candidate for preimplantation genetic testing (PGT). And you have done some background work to prepare yourself for what the process entails. Even if you are months or years away from wishing to conceive a pregnancy, there are many practical...