Many of our Intended Parents will choose to have their genetic samples analyzed. This test, commonly called a genetic profile, is compiled following a simple blood or saliva draw and highlights if the genetic contributor is a carrier for any potential genetic diseases or disorders. Here’s a look at a few of the conditions the profile is able to detect.
- Alpha-Thalassemia—A blood disorder that limits the production of hemoglobin. A protein found in red blood, hemoglobin carries oxygen to cells in the body.
- Beta-Thalassemia— Another blood disorder impacting the production of hemoglobin in the blood. Those with this disorder often develop serious anemia within the first two years of life.
- Cystic Fibrosis (CF)— This is a genetic disorder that is well known for its negative impact on the lungs. However, it can also cause damage to the pancreas, liver, kidneys, and intestines. This condition often leaves sufferers with a plethora of problems including difficulty breathing, frequent lung infections, and potential infertility in males. There is no cure.
- Fragile X Syndrome—This genetic syndrome has been linked to many intellectual disabilities, especially in males. Experts report that nearly half of all children diagnosed with Fragile X syndrome will meet the criteria to support an Autism diagnosis.
- Sickle Cell Anemia—A hereditary blood disorder, this disorder is characterized by abnormalities in the oxygen carrying molecules in red blood cells. Complications can include severe infections and a higher likelihood of stroke.
- Spinal Muscular Atrophy (SMA) —This is a recessive disorder marked by a defect in the gene responsible for encoding proteins. While it can present itself with a wide range of severity, those with this disorder are likely to experience muscle wasting (called atrophy), typically beginning with the lungs. This disorder is believed to be the most common genetic cause of infant death.
- Tay-Sachs Disease—A rare genetic disorder, this condition attacks the nerve cells causing deterioration of both mental and physical abilities. Those with a positive Tay-Sachs diagnosis generally begin to display symptoms around six months of life, with many not living past their fourth birthday.
Intended parents will be able to later compare their genetic profile against one completed by a potential egg donor. Together, these two test results can help you choose a donor/contributor combination that presents the fewest risks of genetic abnormalities possible.
Your Case Specialist will help you decide if these tests are right for you and how to go about acquiring them, if necessary.