Fertility 101: Fertility Testing/Services
Genetic Screening
Carolina Conceptions offers screening for the following genetic disorders, among others:
Couples of Jewish descent will be offered screening for the following four diseases: Tay Sachs, Canavans, Cystic Fibrosis and Familial Dysautonomia. This can be performed by a simple blood test. Genetic counseling can be arranged if necessary.
Carolina Conceptions offers preconception screening through in office consultation and by obtaining serum for diagnostic testing through Lab Corp. or by using saliva and the services of Counsyl. Screening for cystic fibrosis and spinal muscular atrophy can be discussed and procured through either of these two labs. For women with low AMH values, Dr. Lisa Pastore of the University of Virginia has an IRB approved protocol for screening of carriers of Fragile X syndrome. We can offer consultation in conjunction with this study.
Disease Descriptions
Cystic Fibrosis
Cystic fibrosis is a disease that causes the body to produce abnormally thick mucus that leads to life-threatening lung infections. Obstruction in the pancreas and intestine may also occur, causing poor growth and development in children, and leading to a shortened life span. The median age of survival for someone with cystic fibrosis is 33 years. Screening for CF is recommended for all women who are attempting to conceive. For Caucasians, approximately 1 in 25 people carry the gene for CF (the “carrier rate.”) However, Hispanic and African American women are also at risk with a carrier rate of 1 in 46 and 1 in 65, respectively, and, therefore, should be screened.
Back to TopSpinal Muscular Atrophy
Spinal muscular atrophy is a group of inherited diseases that causes progressive muscle degeneration and weakness eventually leading to early childhood death. It is transmitted genetically in an autosomal recessive fashion meaning that both parents need to be carriers in for the child to be potentially affected. Embryo biopsy can be used to determine SMA negative embryos.
Sickle Cell Disease
Sickle cell disease is a blood disorder characterized by anemia and episodic pain. The anemia is due to abnormal hemoglobin production which results in red blood cells becoming stiff and sickle shaped. This disease is most common in people of African descent with a carrier rate of one in 12. People from South America, Central America, India, Saudi Arabia, Italy, Greece and Turkey are also at risk for being a carrier of sickle cell disease. The carrier state is easily diagnosed by performing a hemoglobin electrophoresis.
Fragile X Syndrome
This syndrome is the most commonly inherited form of mental retardation. It is a result of a mutation on the fragile X gene (FMR1). Anyone with a family history of Fragile X Syndrome or a family history of undiagnosed mental retardation should be screened for this disease.
Tay Sach's Disease
Tay Sach’s disease is a progressive neurogenerative disorder characterized by severe mental retardation and seizures and is fatal. It is caused by a deficiency in the enzyme hexosaminidase A. Tay Sach’s disease occurs most commonly in Ashkenazi Jews with a carrier rate of 1 in 25. Non-Jewish people of French Canadian background are also at an increased risk for Tay Sach’s disease when compared to the risk for the general population (1 in 250).