There are several different options available to pregnant women to test for certain genetic conditions and birth defects, including Down’s syndrome, other Trisomy conditions, and open neural tube defects. Down syndrome is caused by an extra chromosome 21 and results in both cognitive and physical challenges. Trisomies are caused by the presence of an extra chromosome and are associated with more serious mental disabilities and medical complications and affect fetal and infant survival. Most do not survive the first year of life. The risk of chromosomal abnormalities like Down’s syndrome and Trisomies increases with maternal age.
Neural tube defects occur when the neural tube, which develops into the baby’s spinal cord and brain, does not close completely. One of these conditions is also known as spina bifida. This leaves an opening along part of the baby’s spine or head and can cause paralysis and other physical or mental problems. Recently, in-utero surgery, has been shown to correct these defects and improve the outcome of fetuses affected with this problem. The risk of open neural tube defects is not affected by maternal age.
Please refer to our BabyScripts app for available tests and allow us to help guide you on what’s right for your family.
If any screening test comes back abnormal, the results and options are discussed with the pregnant woman. She may be referred to maternal-fetal medicine specialists for further counseling and for diagnostic testing options. Diagnostic testing options depend on the stage of the pregnancy.