Anyone who has attended the NTSAD Annual Family Conference knows that parents of affected children or a carrier couple can have healthy children. Sometimes it seems the healthy siblings outnumber the adults! Each family finds the path that is right for them, sometimes pursing one of the options below only to realize that another is a better fit for their family. NTSAD supports families in all their family planning choices.
Prenatal diagnosis uses a variety of techniques to determine if the pregnancy is affected with a genetic disease. Chorionic villus sampling (CVS) and amniocentesis can be used to determine if the pregnancy is affected by Tay-Sachs or an allied disease. For CVS, a sample of the developing placenta is collected and for an amniocentesis, a sample of the fluid around the pregnancy is collected. The samples are used to perform genetic testing for two mutations carried by the parents. The specific genetic mutations in the family must be identified in order to complete this test. CVS and amniocentesis each have a risk of miscarriage, though less than 1%.
Testing for Tay-Sachs and allied diseases is not part of standard prenatal testing, but is offered only when parents are known to be carriers. If interested in prenatal diagnostic testing, discuss the procedure and the risks with your obstetrician or genetics professional. Before undergoing the procedure, consider how the test results will help you prepare for the birth of an affected child or may affect continuation of the pregnancy. A Heartbreaking Choice at www.aheartbreakingchoice.com offers support to couples making difficult decisions.
Pre-implantation genetic diagnosis enables carrier couples to have unaffected biological children, children who do not inherit the genetic disease for which their parents are carriers. Using in vitro fertilization (IVF), egg and sperm are combined outside the body to create embryos. Once the embryos are 5 days developed, they are tested for parental mutations. Embryos that do carry the mutation are discarded or donated to science. Embryos that are not expected to have the mutations are eligible for implantation. A woman typically has 1-2 embryos implanted at once to increase the chance of pregnancy.
Assisted reproduction can also be performed using an egg or sperm donor. It is not standard for egg or sperm banks to screen for most conditions, so it is important to ask about screening and ensure that your donor is not a carrier for the same disease carried by your family. One company that provides genetic screening for women using sperm donors is: Gene Peeks.