“You Don’t Know What You Don’t Know” and How PGT Can Help When You Do

Dec 19, 2019
TAGS: carrier screening, CF, cystic fibrosis, family history assessment, genetic counseling, IVF, patient story, PGT, preimplantation genetic testing

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

Dec 12, 2019
TAGS: autosomal recessive, CAH, carrier screening, Congenital Adrenal Hyperplasia, family history assessment, genetic counseling, IVF, patient story, 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

Dec 5, 2019
TAGS: autosomal dominant, family history assessment, genetic counseling, genetic prion disease, Genetic Testing, Gerstmann-Straussler-Scheinker disease, GSS, patient story, 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...

Cancer, PGT, and Babies – One Mother’s Journey with a BRCA1 Mutation

Oct 24, 2019
TAGS: BRCA, breast cancer, genetic counseling, HBOC, ovarian cancer, patient story, PGT, preimplantation genetic testing, twins

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...

SMA – Family Perspectives on Testing, Treatment, and PGT

Aug 29, 2019
TAGS: carrier screening, family history assessment, IVF, patient story, PGT, SMA, SMA Awareness month, spinal muscular atrophy, Spinraza

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...