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ObjectivesTo assess the detection rate of triploidy at first‐trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies.
MethodsFrom 2008 to 2011, 198 427 women with singleton pregnancies underwent first‐trimester screening between 11 + 2 and 14 + 0 weeks' gestation. Screening parameters included nuchal translucency, maternal serum free β‐human chorionic gonadotropin (β‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A). In all triploid fetuses, these parameters were re‐evaluated. Karyotypes were established by invasive testing (chorionic villus sampling or amniocentesis) or postabortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database...
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