Abstract
To determine to what extent would our percentage of invasive techniques increase if we adopted a previously published algorithm to detect trisomies 13 and 18 during combined first-trimester screenings for Down's syndrome. A retrospective study of 1011 singleton pregnancies screenings was carried out to establish a risk for trisomies 13 and 18 based on maternal age, ultrasonographic measurements of fetal nuchal translucency and maternal levels of free β human chorionic gonadotropin and pregnancy-associated plasma protein A. After applying the selected algorithm with a calculated risk of 1 in 150, the false-positive rates obtained for trisomies 13 and 18 were 0.395%, which would have meant an increase in the percentage of amniocentesis of only 0.2%, given that 60% of the positive results for trisomies 13 and 18 were also positive for trisomy 21. If it is confirmed that the assayed algorithm has 95% detection rate, as the authors suggest, the risk-benefit balance would make its use acceptable.
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