Though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, you won’t experience any symptoms of carrying a child with Down syndrome. At birth, babies with Down syndrome usually have certain characteristic signs, including:
- flat facial features
- small head and ears
- short neck
- bulging tongue
- eyes that slant upward
- atypically shaped ears
- poor muscle tone
Detecting signs and symptoms of Down syndrome during pregnancy can only be by means of prenatal screening tests and prenatal diagnostic tests in comparison to the risk associated with maternal age. These are discussed below.
- Increased risk due to maternal age: Women who are 35 years old or older are at higher risk of having a baby with Down syndrome.
- Abnormal results on prenatal screening tests: Prenatal screening tests, such as the combined first trimester screen, nuchal translucency screening, and quad marker screen, can identify a higher risk of Down syndrome based on certain markers in the mother’s blood and the thickness of fluid at the back of the fetus’s neck.
- Abnormal results on prenatal diagnostic tests: If prenatal screening tests indicate a higher risk of Down syndrome, a diagnostic test, such as chorionic villus sampling (CVS) or amniocentesis, can be performed to obtain a sample of the fetus’s genetic material for analysis.
It’s important to note that these tests are not diagnostic and can only indicate a higher risk of Down syndrome. A proper diagnosis can only be made after birth through a physical examination and genetic testing.
It’s also important to consult with a doctor about the risks and benefits of prenatal screening and diagnostic tests, as well as options for prenatal care and preparation for raising a child with Down syndrome.