Chromosomal defects’ evaluation with new ultrasound markers in first trimester having high genetic risk pregnancies

Dr Ngo Thi Kim Loan1, Dr Huynh Thi Thu Thuy1, Dr Ha To Nguyen1, Dr Nguyen Te Dang1, Dr Nguyen Duy Phong2, Dr Le Trong Khoan3, Dr Tran Cong Toai4
1 Tu Du Hospital
2 Department of Infections University Medicine and Pharmacy in Ho Chi Minh City
3 College of Education Department Cardinal Hue
4 Department of Embryonic Tissue School University of Medicine and Pharmacy and University of Medicine Pham Ngoc Thach TP Ho Chi Minh

Main Article Content

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.

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References

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