Chromosomal defects’ evaluation with new ultrasound markers in first trimester having high genetic risk pregnancies
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Abstract
Objective: To determine sensitivity (Se), specificity (Sp), false positive rate (FPR), positive predictive value (PPV) of new ultrasound markers on high genetic risk pregnancies between weeks 11 and 14. Before CVS procedure, the new ultrasound markers nasal bone(NB), DV and TR were assessed. We determined diagnostic evaluation of new ultrasound markers based on ultrasound findings and genetic results from CVS – gold standard.
Results: NB marker: Se: 60%, Sp: 97.1%, FPR: 2.9% for T21. Se: 60%, Sp: 94.5%, FPR: 5.5% for T18. Se: 50%, Sp: 93.6%, FPR: 6,4% for T13. Se: 100%, Sp: 92.9%, FPR::7,1% forTurner syndrome. DV marker: Se: 70%, Sp: 96.2,1%, FPR: 3.8% for T21. Sens: 60%, Spec: 92.7%, FPR: 7.3% for T18. Se: 50%, Sp: 91.8%, FPR: 8.2% forT13. Se: 100%, Sp: 91.1%, FPR: 8.9% forTurner syndrome. TR marker: Sens: 60%, Sp 96.1%, FPR: 3.9% for T21. Se: 40%, Sp: 92.7%, FPR: 73%, for T18. Se: 50%, Sp: 92.7%, FPR: 7.3% for T13. Se: 100%, Sp: 92%, FPR: 8.0% for Turner syndrome. Combine 3 new markers for detecting chromosome defects: Increase Se, Sp and decrease FPR.Se: 60%, Sp: 97,1%, FPR: 2,9%. Reducing 73% placental biopsies…
Conclusion: New ultrasound markers in the first trimester improved diagnostic evaluation of chromosome defects and
avoiding unnecessary placental biopsy.
Article Details
Keywords
Chorionic villus sampling, nasal bone, ductus venosus, tricuspid flow.
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