How to Screen for Down Syndrome

There are several tests used to screen for Down syndrome, some of which indicate the possibility that the disease is present, while others confirm it. Most screening tests are not invasive, but they are also not accurate enough to confirm 100 percent whether or not Down syndrome is present. For absolute confirmation, screening or diagnostic tests are needed and must be done as early as possible in the pregnancy. Read on to learn more about how to screen for Down syndrome.

Instructions

Difficulty: Moderate

1. Request a Nuchal translucency testing at 11 weeks of pregnancy. This is basically a special ultrasound done to detect fluid behind the fetus's neck. The Nuchal test is often done along with other tests to gauge the possibility that a baby may have Down syndrome. Even then, the results have a 20 percent margin of error.
2. Ask your doctor about blood tests available to screen for Down syndrome. Most doctors will recommend the alpha fetoprotein plus test, which detects certain substances that can indicate Down syndrome. Another blood test available is the triple screen, which basically detects the same substances but in a different combination.
3. Ask for a diagnostic test if you want to know for sure that your baby is healthy. The problem with diagnostic tests is that they are somewhat invasive, as they require extracting amniotic fluid or a placenta sample with a needle. Most doctors will shy away from these types of tests unless the woman is over 35 or there is reason to believe the child may be at risk.
4. Talk to your doctor about an amniocentesis, the most common type of diagnostic test, and percutaneous umbilical blood sampling (PUBS), which is somewhat similar but can be performed later in the pregnancy. These tests can give a definitive answer about Down syndrome, as they allow for the testing of the number of chromosomes.
5. Don't delay asking for a test. Many doctors will skip the screening if you are young or they feel you are at no particular risk, so it's important to bring it up early during the pregnancy and insist on it if it is truly important to you.

Tips & Warnings

• Make sure you understand the risks involved with diagnostic tests before you agree to them. While the number of miscarriages associated with them is small, they still exist.
• Talk to your doctor about your fears and concerns and request screening tests if they are not suggested by your health care provider.