Simple– Carrier screening involves extracting DNA from blood samples and analyzing it for mutations that cause the most common inherited diseases.
Relief – Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.
Reliable – It reveals carrier status and any impact on children and future offspring
Decision – Help your healthcare professional make a timely and accurate diagnosis
Carrier screening involves extracting DNA from blood samples taken from a couple considering having a baby and analyzing it for mutations that cause the most common inherited diseases. A panel of genes is used to identify any possibility the couple will pass on genes that might cause disease in their future children. Each person has two copies of every gene—one from the mother
and one from the father. Carriers are people who have one normal gene and one abnormal gene, but are not affected by the disorder from the abnormal gene. Although carriers are usually healthy, there is a chance that the genetic condition caused by the abnormal gene can be inherited by their children. Knowing this information will be helpful in deciding the next steps to take in the reproductive process. Some common conditions which we screen for are Cystic Fibrosis, Fragile X, and Spinal Muscular Atrophy, to name a few. People from certain ethnic backgrounds may also be more susceptible to more rare genetic disorders.
Who should get the test?
The test can be requested by all couples, as anyone can be a carrier. However, it may be more recommended for certain ethnic backgrounds that have a higher incidence rate for specific diseases. For example, some genetic disorders are more prevalent in people of Ashkenazi Jewish descent, such as Tay-Sachs disease and Canavan disease.
How does the test work?
The test is offered to both men and women, and requires only a simple blood draw. Screening can be performed either before or during pregnancy. Samples are analyzed using cutting-edge NGS technology, and results will be available 7-10 days after samples are received.
What does a positive result mean? What if the test shows that we are at risk for having a child with a genetic disorder?
If results show that you or your partner is a carrier of a genetic disorder, further diagnostic testing is recommended to determine whether the child will be affected. If one parent is a carrier, the partner should be tested as well. If both parents are found to be carriers for a certain recessive condition, then there is a 1 in 4 (25%) chance that their children could inherit that genetic disease. If you are already pregnant, the next step would be prenatal diagnostic tests, either CVS or amniocentesis depending on the gestation period, as either of these would reveal whether the baby is affected by the disorder or not. Prior to pregnancy, IVF with PGD testing may be an attractive option to prevent genetic disorders: donor eggs or sperm from non-carriers can be used, and only healthy embryos will be selected for implantation.