[Cell-free fetal DNA analysis in maternal plasma as a screening test for trisomy 21 in twin pregnancies]

To evaluate the performance of noninvasive prenatal testing by cell-free circulating fetal DNA in maternal blood (cfDNA) in screening for trisomies 21 in twin pregnancies.

CfDNA was performed in 492 patients with twin pregnancies without ultrasound anomalies in the first trimester as a first-line screening test or after serum screening. Data were collected prospectively and a retrospective analysis was done. CfDNA was executed by massive parallel technique. The fetal fraction threshold for test evaluation was 8%. Regression analysis was performed to evaluate the effect of different parameters on the test failure rate. Performance of the test was also considered.

In 377 patients, the test was prescribed first line and in 115 after standard serum screening. Twelve tests (2.9%) have initially failed on the 420 pregnancies with available outcomes and regression analysis found only maternal weight as a significant independent factor of test failure. A second test was performed on 10 patients, all of them had an available result. cfDNA identified all 3 cases of trisomy 21. The sensitivity was 100.0% (95% CI [29.2-100.0%]) and specificity was 99.8% (95% CI [98.7-100.0%]). There was no significant difference between spontaneous pregnancies and those induced by assisted reproductive technologies (ART), in terms of fetal fraction percentage, no-call results for cfDNA screening, maternal weight, or test performance between the two groups.

In twin pregnancies without fetal ultrasound abnormalities, the performance and success rate of the cfDNA are excellent. Therefore, cfDNA could be offered in routine practice as a first-line screening test in this population.