There are two tests that help doctors to rule out potential risks for some birth defects, such as Down’s Syndrome earlier in the pregnancy and without invasive tactics like amniocentesis.

Earlier screening means knowing either way sooner, relieving some of the stress involved with not knowing if your baby has a problem.

It also gives women a chance to safely and discretely make a decision about carrying the pregnancy to term, where later in the pregnancy the options become more limited and more risky.

Blood Testing

The first important test is a blood test that checks two different proteins produced by the placenta between week 9 and week 13. Beta-hCG and PAPP-A are the two hormones present at abnormal levels in pregnancies carrying Down Syndrome babies. Even if you’re not a risk for Downs Syndrome, it’s a simple way to get tested and relieve some of the stress that goes along with not knowing if you are having a healthy baby.

Nuchal Translucency Screening

Nuchal Translucency Screening (NT) is a special ultrasound test to help screen for Down Syndrome and other chromosomal diseases. Down's Syndrome occurs when there are three chromosomes instead of two at chromosome 21. There are a few other chromosomal diseases that can be detected and they result in mental retardation and/or congenital heart defects. Doctors have discovered a link between chromosomal problems and excess fluid in the nuchal folds of a baby’s neck.

What If It’s Positive?
While this all seems scary, these tests only characterize the risk your baby has for a potential problem. Even if your baby is considered a risk for Down’s Syndrome, he or she may be born perfectly healthy because the test isn’t a diagnosis but a screening that points to the need for more intensive testing, such as amniocentesis. In any case, NT screening gives you and your doctors a chance to assess risk and problems so you can prepare down the road when the baby is born.

What’s Involved?
The NT screening is very simple and non-invasive. The fluid in your baby’s neck area will be measured via ultrasound and the results are assessed for risk.

Where And When Is It Performed?
You’ll need to plan ahead for this test, as it’s performed with high-resolution ultrasound machines and specially trained technicians. You’ll have to go to a larger medical center and you’ll need to book it soon, as it can only be performed after week 11 and before week 14 of pregnancy.

The Next Steps…
If your pregnancy is considered a risk for birth defects, your doctor may decide to take the next step and perform chorionic villus sampling (CVS.) This test involves taking cells from tiny projections in the placenta known as chorionic villi. The lab will analyze the results and the results will help to identify chromosomal abnormalities and genetic disorders like cystic fibrosis or sickle cell disease. Performed between weeks 11 and 13 of pregnancy, CVS has serious risks but it’s still less invasive than amniocentesis, which analyzes the amniotic fluid surrounding the baby.

Think Positive
No matter the potential results, you must think positively and get your first trimester testing done. A positive result gives you time to make important decisions while a negative test result allows you to sit back and enjoy the rest of your pregnancy.