The inherited disorders that we test for include: cystic fibrosis, sickle cell disease, beta thalassemia, Tay-Sachs disease and others. While these diseases are higher than the average risk of having a baby born with Down syndrome or a neural tube defect (SENTENCE INCOMPLETE).
All of these disorders are recessive, which means that for a baby to be born with the disorder, both parents would have to be carriers. Carriers have inherited a normal copy of the gene from one parent and a defective copy of the gene from the other parent. Thus carriers usually do not exhibit the symptoms of the disorder. When two carriers of the same disorder (such as cystic fibrosis or sickle cell disease) have a baby, there exists a twenty-five percent chance that the baby will have inherited two defective genes, and thereby be affected with the disorder.
Genetic Carrier Screening is performed on the mother and either pre-conception or early in the first trimester of pregnancy, if any of the parents are determined to be a carrier of a hereditary disorder. This allows time for you to discuss with your health care provider or a genetic counselor if further diagnostic testing such as CVS (Chorionic villus sampling) and/or amniocentesis should be accomplished in order to determine the health status of your baby. Early screening is affected before birth makes it more likely that your baby can be helped by early treatment (REVIEW ENTIRE SENTENCE). It allows you to line up the right medical specialists, who can be on hand to start treating your baby soon after delivery.
At Pure Diagnostic, we believe that knowing is caring. That is why our Genetic Carrier Screening panels are designed to tell you if you or your partner are carriers of any of the hereditary disorders.