The use of preimplantation genetic testing (PGT) on embryos both for monogenic disorders (PGT-M) and for aneuploidy (PGT-A) has rapidly increased over the last decade. Based on preliminary data from the 2017 SART National Summary Report, 36% of all in vitro...
The use of preimplantation genetic testing (PGT) both for monogenic disorders (PGT-M) and for fetal aneuploidy (PGT-A) has rapidly increased over the last decade. Based on preliminary data from the 2017 SART National Summary Report, 36% of all in vitro fertilization...
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...
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...
What is sickle cell disease? Sickle cell disease (SCD), also called sickle cell anemia, is a common inherited blood disorder that affects men and women across the world. Most often, SCD occurs in people of African, Middle Eastern, Mediterranean, Indian, Caribbean,...
The nervous system is essentially the body’s electrical wiring system, made up of the brain and a complex connection of specialized cells called neurons that transmit signals between different parts of the body. They work together to control all of the body’s...
Autosomal dominant is a pattern of inheritance. Genetic diseases are caused by gene changes, also called mutations or pathogenic variants that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the other...
What is fragile X syndrome? Fragile X syndrome is the most common inherited cause of intellectual disability and autism. The gene that causes fragile X syndrome helps in the development of neuronal synapses. Therefore, mutations in this gene lead to delayed...
Genetic diseases that run in families usually follow certain inheritance patterns. X-linked (sometimes called “sex-linked”) is one pattern of inheritance. It is called “X-linked” because the genes related to these types of diseases are found on the X chromosome, one...
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...
