Testing is available in pregnancy to screen for certain
birth defects. Below is information regarding currently available testing. Ultrasound is
offered at approximately 20 weeks of the pregnancy to screen for physical defects in the
fetus. Examples of these include heart defects and spina bifida. If there is a family
history of a particular problem such as a heart defect, a targeted ultrasound of that body
system may be offered. Various tests are available to screen for Down syndrome and Trisomy
18, chromosomal abnormalities that may occur in the fetus, associated with varying levels of
mental retardation and physical defects.
Screening tests have the advantage of being non-invasive,
meaning they pose no risk to the
pregnancy in comparison to diagnostic testing, discussed later. Screening tests assess your
risk for a particular disorder, they do not diagnose. These tests can be reassuring to
couples who do not desire invasive testing. Quad Screen, a blood test performed at
approximately 16 weeks that assesses your baby’s risk for Down syndrome, Trisomy 18, neural
tube defects and abdominal wall defects.