Introduction

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Pregnancy is often a wonderful time filled with excitement and the anticipation of a new addition to the family. Quite often there are also 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 chromosome problems, such as Down syndrome, during their first trimester of pregnancy.

Risk assessment screening for Down syndrome and open neural tube defects (ONTDs) is now a common medical practice, as approximately 1 out of every 20 women screens positive for Down syndrome, and for women age 40-44 years, up to approximately 1 in 3 screens positive for Down syndrome. The First Trimester Screen | Fß protocol provides a first trimester risk assessment based on data from testing a small maternal blood sample and a standard nuchal translucency (NT) ultrasound measurement, performed between 11 to 13 weeks, 6 days of gestation. 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 potential chromosome abnormalities. Approximately 95% of women who undergo this simple screen are shown to be at low risk for Down syndrome and trisomy 18 and 13. The 5% who are shown to be at higher risk are then presented with diagnostic options, such as chorionic villus sampling (CVS) or amniocentesis. 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 for each individual patient. The detection rate for Down syndrome achieved by the First Trimester Screen | Fß protocol is 91%, and the false positive rate is 5%.

PerkinElmer Labs/NTD works closely with 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 and 18, or open neural tube defects (ONTDs), and cannot find answers to your questions on this website, please contact us today, or ask your physician about the First Trimester Screen | Fß screening test.

Visit the Maternal Marker Testing, Early Onset Preeclampsia and Molecular Testing sections for additional information about our testing services.

Pregnant women are advised that the information provided here is of a general nature and is intended to offer 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.


DISCLAIMER: Pursuant to applicable federal and/or state laboratory requirements, PerkinElmer Labs/NTD has established and verified the accuracy and precision of its testing services.