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Back To Vidyya Test In The First Trimester Of Pregnancy Is More Effective In Identifying Birth Defects And Mental Retardation

Combination Blood Test And Ultrasound Exam Can Identify Over 90% Of Cases Of Down Syndrome In First Trimester

A study in the August 2000, issue of Obstetrics and Gynecology (vol 96, No. 2; 207-213) shows that a new screening test which combines a blood test and an ultrasound exam can identify over 90% of cases of Down syndrome in the first trimester of pregnancy.

This early screening test is an alternative to the "triple test" and has the advantage of being performed 6-8 weeks earlier in pregnancy while detecting 30% more cases of Down syndrome. Down syndrome is one of the most common birth defects, affecting about one in every 600 new-born babies.

The study, entitled "First-Trimester Down Syndrome Screening Using Dried Blood Biochemistry and Nuchal Translucency", was a collaboration of NTD Laboratories, Huntington Station, New York, Centro Di Diagnosi Prenatale, Palermo, Italy; GeneCare Medical Genetic Center, Chapel Hill, North Carolina; and The George Washington University Medical Center, Washington D.C.

Patients in the study underwent an ultrasound exam in which the amount of fluid accumulation behind the neck of the baby, called nuchal translucency, was measured. Additionally, a blood test was performed on each patient in which two chemicals called free Beta hCG and PAPP-A were measured. The results of the ultrasound measurement and blood test were then entered into a mathematical formula to determine the risk that the patient was carrying a baby with Down syndrome. The screening test identifies less than 5% of patients at high risk for Down syndrome. These increased-risk patients are then offered a safe diagnostic procedure, either chorionic villus sampling (CVS) or amniocentesis, which can determine, definitively, if the patient is carrying a baby with Down syndrome. The study showed that 91% of women carrying a baby with Down syndrome were in the increased-risk group.

The advantages of the new test, UltraScreen(R) , provided by Perinatal Center , Las Vegas, Nevada and GeneCare Medical Genetics Center, Chapel Hill, North Carolina, include 30% increased detection over current Down syndrome screening tests, fewer patient reported to be at increased risk, earlier test results, more time and more diagnostic options for patients with increased risk results.

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Editor: Susan K. Boyer, RN
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