Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) Now Have New Names
Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) now have new names. In order establish consistency across infertility clinics, the International Glossary on Infertility and Fertility Care recently published new terminology related to the genetic screening of embryos. PGS and PGD are terms we have used to describe genetic testing of embryos before a […]
Why Genetic Testing?
At least one in 30 people are a carrier of a genetic disorder. Most carriers don’t have a family history of a genetic disease. Many patients ask us why genetic testing is important to consider? Being a carrier of a genetic disorder does not usually affect one’s individual health, but being a carrier does mean […]
Previous FCNE blogs have reviewed genetic screening of embryos before they are implanted within the uterus; this is known as preimplantation genetic diagnosis or PGD. What genetic screening is available after a woman is already pregnant and when are these recommended? New technology has recently permitted noninvasive prenatal testing for fetal chromosomal abnormalities from a […]
Spinal muscular atrophy (SMA) is an inherited disease that affects an infant’s muscular activity. Voluntary muscles are driven by motor neurons. Children with SMA are missing a gene that is required to produce certain proteins involved in motor neuron development. Without this protein, the nerves shrink and ultimately atrophy. Without motor neuron innervation, the muscles […]