Some couples find out that they are carriers of a single gene recessive disorder only after their first pregnancy. Such was the case for Emily and Adam Griffin, who then decided to pursue PGT-M (preimplantation genetic testing for monogenic/single gene disorders) for...
One of the leading causes of infant death is a genetic disease called spinal muscular atrophy, also known as SMA. While SMA is genetic, most people are unaware of the risk of having a child with SMA until they either have a child with this disorder or their SMA...
A person who has a disease-causing variant — also known as a mutation — in one of their two copies of a particular gene is known as a carrier. Carrier screening for specific genetic conditions is a routine part of prenatal care, but patients and providers are...
If you’re thinking about starting or expanding your family, you may wonder if you or your partner have a heritable genetic disease. And, if so, how can you prevent your offspring from inheriting a disabling condition? Genetic carrier screening is the first step...
Leslie Evans, MS, CGCLeslie is a board-certified clinical genetic counselor and former Program Manager for the preimplantation genetic testing (PGT) program of the ORM Genomics team and former Project Manager for SharingHealthyGenes.com. She completed her Bachelor’s...
