What Is Spinocerebellar Ataxia? Ataxia is the loss of muscle coordination and can be acquired or genetic: The spinocerebellar ataxias (SCAs) are a group of hereditary ataxias. The SCAs are rare disorders that can involve the cerebellum and other parts of the central...
When considering the risk of having a child with a genetic disease, most people are quick to think about their family history — but that isn’t the only risk factor. Most intended parents don’t realize that certain ethnic backgrounds or ancestry is...
Preimplantation genetic testing (PGT) is a combination of IVF and genetic testing to identify genetic disorders in embryos before implantation and pregnancy. Embryos with a lower risk of a genetic disorder are selected for implantation, increasing a couple’s...
If you have ever had genetic testing and counseling, you probably have some understanding of the process, but likely have not given much thought to how a person actually becomes a genetic counselor. Who are genetic counselors? What do they do? More importantly, how...
When I first began working in the fertility sphere, I felt like I was learning an entirely new language. Healthcare professionals and patients involved in fertility evaluations and treatments have to wrap their minds around a bevy of unusual words, complicated medical...
Whether watching reruns of “ER” or the latest episode of “Grey’s Anatomy,” viewers are expected to learn a handful of acronyms for medical terminology to keep up with the flurry of dramatic dialogue. While abbreviations such as DNR and...
When parents who are at risk of having a child with an inherited genetic disease explore the option of having their embryos tested via preimplantation genetic testing (PGT), they are often surprised to learn that they have to start by creating those embryos with in...
Having a baby is expensive. But having a baby with the help a fertility clinic may seem out of reach for many couples, even when they are at risk for having a child with a genetic disease. Preimplantation genetic diagnosis (PGD), mostly referred to now as...
If you or your partner has a mutation for an autosomal dominant condition, like Huntington disease or Marfan syndrome, you may want to consider preimplantation genetic testing (PGT) for single gene disorders. It can be difficult to know how to talk to your partner...
The American College of Obstetrics and Gynecology (ACOG) recommends genetic carrier screening, testing to determine the risk of having a child with a genetic condition, for couples planning a pregnancy. Many fertility clinics now use an expanded carrier screening...
