Dépistage de la trisomie 21 en France : le consensus du pire

Down syndrome screening has been based on second trimester maternal serum markers assay for many years. Another late strategy was based on the “genetic sonogram” performed in early second trimester in high-risk populations selected on maternal age or second trimester maternal serum markers. New strategies for Down syndrome screening have emerged over the last 10 years, with higher sensitivity and lower false-positive rates. First trimester ultrasound examination is a successful screening test; the sensitivity of nuchal translucency measurement is of 60 to 77% for a 5% false-positive rate. Combining nuchal translucency measurement with PAPP-A and free β-hCG assay (first trimester combined screening) increases the sensitivity up to 82%. The most specific strategy is based on the integrated test, i.e., the integration of the quadruple test performed in second trimester (inhibine dimeric A, total β-hCG, AFP, and uE3 assay) to the first trimester combined screening: for a 85% detection rate, the false-positive rate is estimated to 0.9%. However, it is ethical only with the patient agreement because it prevents access to the results of first trimester combined screening, and deprives the patient of an early diagnosis by CVS. Therefore, alternative strategies were proposed: step-wise sequential screening and contingent sequential screening. In the step-wise screening, karyotype is offered when the result of the combined test is beyond a specified threshold. If the combined test result is below this threshold, quadruple test is offered, and the final risk is calculated in the second trimester by integrating the results of the quadruple test with those of the combined test. Contingent screening also begins with the first trimester-combined test. According to its results, the patients are considered in one of the 3 following risk groups: high, intermediate, or low risk. An early karyotype is proposed to the high-risk group after combined testing. The low risk group is reassured and thus the quadruple test is not performed. The quadruple test is proposed to the intermediate risk group and final risk is calculated by the integration of the combined test result into the quadruple test result. The global detection rate of the step-wise or contingent sequential screening is estimated to 84% for a false-positive rate of 2%.