What does a negative result for Down syndrome mean? It's important to note that five out of every 100 women who take the integrated screening test receive "screen positive" results but most will not have a baby with Down syndrome. We will then offer you an amniocentesis test to examine your baby's chromosomes. If your results are "screen positive," your baby has a higher risk for Down syndrome than other babies. Your integrated screening results are considered "screen positive" if the risk for Down syndrome is one in 110 or greater (for example, 1 in 90 or 1 in 80). What does a positive result for Down syndrome mean? We send a copy of the test results to your physician and a genetic counselor will call you to discuss the results and schedule any necessary follow-up appointments. We can also use the screening results to estimate the risk for other disorders including open neural tube defects (spina bifida) and Trisomy 18.The integrated screening results are usually ready one week after the second stage. The NT measurement, the levels of the five substances in your blood and your age help us estimate your risk of having a baby with Down syndrome. We combine the results from the first and second stages into a single screening result. A nurse will take a second blood sample to measure the amount of four proteins in your blood – alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A (inhA).The second stage is ideally performed at 15 or 16 weeks of pregnancy and no later than 22 weeks.A nurse will take a blood sample to measure the amount of pregnancy associated plasma protein-A (PAPP-A).We will perform an ultrasound to precisely determine how far along you are in your pregnancy and to measure the thickness of your baby's uncial translucency (NT), which is a fluid-filled space at the back of the baby's neck.One of our genetic counselors will meet with you, review your medical history and explain the test.The first stage is ideally done between 11 and 12 weeks of pregnancy, but any time between 10 and 13 weeks is acceptable.The test is performed at the Prenatal Diagnosis Center in two stages: There are different ways to test for Down syndrome screening but the Integrated Test is the most specific, has the highest detection rate and a low false-positive rate. The Integrated Screening Test tells you what the chances are that your baby might have Down syndrome or open neural tube defects such as spinal bifida.
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