Second Trimester Screening

Second trimester screening (STS), also called quad screen or triple screen, is a test that can tell the chances that a pregnancy has Down syndrome (trisomy 21), trisomy 18, and open neural tube defects (ONTDs). STS is generally performed between 15 and 22 weeks of the pregnancy, and consists of a blood draw taken from mom. The triple screen measures three proteins that are in mom’s blood that are coming from the pregnancy: human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and alpha-fetoprotein (AFP).

• Unconjugated estriol (uE3): uE3 is made by both the baby’s liver and the placenta. Levels of this protein rise throughout the pregnancy. Babies with Down syndrome or trisomy 18 tend to have lower levels of uE3.
• Human chorionic gonadotropin (hCG): hCG is also produced by the placenta and crosses over into mom’s blood stream. hCG tends to be higher in pregnancies with Down syndrome and lower in pregnancies with trisomy 18.
• Alpha-fetoprotein (AFP): AFP is a protein produced in the baby’s liver during the second trimester of pregnancy. The levels of AFP generally increase the further into the pregnancy you are. AFP levels tend to be higher when the baby has an open neural tube defect (ONTD), such as spina bifida. With ONTDs, there is an opening in the skin and AFP has another ‘escape route’ out. AFP levels tend to be lower in pregnancies that have Down syndrome or trisomy 18.

The quad screen analyzes the three previous proteins, as well as inhibin-A.
• Inhibin-A: Inhibin-A comes from the placenta. Levels of this protein in mom’s blood remain relatively constant through weeks 15-18 of the pregnancy. Pregnancies with Down syndrome tend to have higher than average levels of inhibin-A, while pregnancies with trisomy 18 tend to have lower levels of inhibin-A.

The lab uses information from the blood draw and about the mom (age, weight, ethnicity, etc) to calculate a risk number. The results will be broken down by each condition that was screened for. For example, a second trimester screen result may say that the risk for Down syndrome is 1 in 5,000, the risk for trisomy 18 is 1 in 10,000, and the risk for ONTDs is 1 in 3,000. This means that if there were 5,000 women that had the exact same test result as you, only 1 would have a child with Down syndrome. Likewise, if there were 10,000 women with the exact same test result, only 1 would have a child with trisomy 18. And if there were 3,000 women with the exact same test results, only 1 would have a child with an ONTD.

A low-risk, or negative, STS means the chances are reduced for these conditions, but this test does not rule any medical conditions out. Similarly, a STS result that shows an increased risk does not mean that the pregnancy has that condition. If your results show an elevated risk, you may be offered further testing, such as a diagnostic prenatal test. It’s important to remember that most people who have a ‘positive’ or ‘high-risk’ STS will go on to have healthy babies. People choose either to do or not to do prenatal genetic screening for many reasons. It is important to remember that this testing is voluntary and is not required.

Your results are high-risk – now what?

If you had a STS done with your primary OB-GYN, they may refer you to a high-risk pregnancy doctor called a perinatologist. You may also be referred to meet with a genetic counselor. These visits are designed to make sure to get more information and try to make sure you have all the necessary information to decide how to move forward. You may be offered further testing, including cell-free DNA, chorionic villus sampling (CVS), or amniocentesis. The choice to undergo further testing is yours, and is always voluntary.

Your results are low-risk – now what?

A low-risk test result means the chance that the pregnancy has those conditions is reduced but not eliminated. Only about 80% of pregnancies that have Down syndrome and trisomy 18 will have a positive STS, which means that 20% will have low-risk STS results. The chance that a pregnancy that does not have Down syndrome or trisomy 18 will have a high-risk test result, or a false positive, is about 5%.

How do I decide whether to get STS or not?

If you’re on the fence about whether or not to pursue STS, it may be helpful to consider the following:

• If the STS shows a high risk for a condition, would you pursue additional testing, such as CVS or amniocentesis?
• If not, would you be ok waiting until the baby is born to know for sure if they are affected?
  Would you want this kind of information to be better prepared?
• Would you consider doing anything differently if you knew a pregnancy was affected with one of these conditions, such as placing the baby up for adoption or not continuing the pregnancy?
• Does more information with the possibility of uncertainty make you nervous or anxious?

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