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MOMs (multiples of the median) and DADs (discriminant aneuploidy detection): improved specificity and cost-effectiveness of biochemical screening for aneuploidy with DADs

Article Abstract:

Double screening may be as effective as triple screening for Down syndrome according to an improved method of statistical analysis. Double screening measures the amount of alpha-fetoprotein and beta-human chorionic gonadotropin in a maternal blood sample whereas triple screening adds estriol. Several types of statistical analyses to determine risk for Down syndrome were performed on data from 24,504 women who had a single, double, or triple screen. An improved statistical model found the double screen to be as effective as the triple screen at identifying women at risk for a Down syndrome fetus. Dropping the estriol component of the screen would save about $500,000 for every 25,000 women screened. The improved method of weighting risk also identified 1% fewer women as being at risk. This would reduce the number of women proceeding to amniocentesis by 250, creating a further cost savings of $400,000.

Economic aspects

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Combining humerus and femur length for improved ultrasonographic identification of pregnancies at increased risk for trisomy 21

Article Abstract:

Ultrasonographic measurements may provide a means of screening the fetus for Down syndrome. In the normal fetus during the middle trimester the foot, upper arm, and upper leg are all roughly the same length. Down syndrome fetuses characteristically have short arms and legs. Therefore, if the arm length is added to the leg length and divided by the foot length, the ratio in a normal fetus, independent of gestational age, should be two. In a Down syndrome fetus, it should be less than two. To validate this theory, measurements were made directly on 703 preserved mid-trimester fetuses, of which 62 were known to have Down syndrome. Once validated, measurements were made on ultrasound scans of 576 midtrimester fetuses at risk for Down syndrome. Fetuses with a ratio less than or equal to 1.75 were 15.3 times more likely to have Down syndrome. This technique identified 53% of Down syndrome fetuses.

Methods, Measurement, Fetus

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