Research Update – How Does Trophectoderm Biopsy Affect Newborns?
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...
Maternal Effects of Trophectoderm Biopsy
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...
PGT for Sickle Cell Disease
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,...
PGT for Neurofibromatosis
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...
What is Autosomal Dominant Inheritance?
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...
PGT for Fragile X Syndrome
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...
What is X-linked Inheritance?
Genetic diseases that run in families usually follow certain inheritance patterns. X-linked (sometimed 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...
PGT for Smith-Lemli-Opitz syndrome
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Optiz syndrome (SLO) is an inborn error of cholesterol metabolism that results from the reduced activity or absence of the enzyme 7-dehydrocholesterol reductase. This enzyme controls the last step in the formation of...
An Introduction to Genetic Inheritance
Individuals who have family members with certain medical conditions may benefit by seeing a genetic counselor to explore the risk to develop the condition themselves as well as pass it on to their children. One part of the consultation will usually be to record the...