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

Objectives: 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.

Methods: 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.

Results: 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.

Conclusion: 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.