Introduction
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Pregnancy is often a wonderful time filled with excitement and anticipation of a new addition to the family. Quite often though there are concerns at this time about potential birth defects. For this reason, leading medical authorities now recommend that all pregnant women be offered risk assessment testing for Down syndrome during their first trimester of pregnancy.
Risk assessment screening for Down syndrome and open neural tube defects is now a common medical practice, as 1 out of every 20 women can screen positive for Down syndrome, and for women age 40-44 years, up to 1 in 3 can screen positive for Down syndrome. Available as early as 9 weeks gestation, the Ultra-Screen protocol provides a first trimester risk assessment based on data from testing a small maternal blood sample and a standard nuchal translucency (NT) ultrasound examination performed between 11 to 13 weeks, 6 days. The NT exam measures fluid accumulation behind the neck of the fetus. Measuring the thickness of this fluid provides important prognostic information (in the first trimester) on a fetus with a chromosome translocation. For parents with a known balanced translocation, the detection of increased NT at 11-14 weeks of gestation is closely correlated with Down syndrome and other structural anomalies. Approximately 95% of women who undergo this simple, two-step screen are shown to be at low risk for Down syndrome and trisomy 18/13. The 5% who are shown to be at risk are then presented with other diagnostic options. In either scenario, the results are made available early in the pregnancy which provides more time to consider and plan the path of care appropriate to each individual patient. Furthermore, the detection rate for Down syndrome via the Ultra-Screen protocol is 91%, and the false positive rate is 5%.
NTD works closely with affiliated health care professionals in hospitals, obstetric centers and practices to offer comprehensive Down syndrome screening solutions. If you have any questions or concerns about screening for Down syndrome, trisomy 13/18, or open neural tube defects, and cannot find answers to your questions in this website, then contact us today, or ask your physician about the Ultra-Screen protocol.
Pregnant women are advised that the information provided here is of a general nature and is intended to provide a better understanding of the prenatal screening process. All medical decisions should be made in consultation with a licensed physician or other professional healthcare provider.