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ผศ . พญ . รัตนา คำวิลัยศักดิ์ PowerPoint Presentation
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ผศ . พญ . รัตนา คำวิลัยศักดิ์

ผศ . พญ . รัตนา คำวิลัยศักดิ์

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ผศ . พญ . รัตนา คำวิลัยศักดิ์

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  1. Genetic Sonogram ผศ.พญ.รัตนา คำวิลัยศักดิ์ การประชุมวิชาการ ครั้งที่ 21 ประจำปี 2548 วันที่ 11 ตุลาคม 2548 ณ ห้องบรรยาย 3 คณะแพทยศาสตร์ มหาวิทยาลัยขอนแก่น

  2. Second trimester • Double test • Triple test • Quadruple test •Genetic sonogram First trimester •Nuchal translucency • Combined test • Double test First + Second trimester • Integrated test • Serum Integrated test DS Screening Methods

  3. First TrimesterU/S Screening

  4. Nuchal translucency Nasal bonehypoplasia First TrimesterU/S Screening

  5. Nuchal Translucency

  6. GA 10-14 weeks CRL 35-84 mm. Abnormal NT > 3 mm. Sensitivity 70% False positive rate 4.3 % Nuchal Translucency Caughey et al. Am J Obstet Gynecol 2002 Nov;187:1239-45.

  7. Nuchal Translucency Accuracy depends on measurement technique Intra-observer variability 0.2+0.27 to 0.33+0.41 Inter-observer variability 0.22+0.22 Mean duration of measurement 8-12 min. Suntharasaj et al. Gynecol Obstet Invest 2005;60:201-05.

  8. Nuchal Translucency X  X

  9. Nasal BoneHypoplasia

  10. GA 11-14 weeks DS Hypoplasia, Absent Nasal bone length < 2.5 mm. Sensitivity 29% Specificity 96% Likelihood ratio 7.3 Nasal BoneHypoplasia Odibo et al Obstet Gynecol. 2004;104:1229-33.

  11. Nasal BoneHypoplasia

  12. Second TrimesterU/S Screening

  13. Genetic Sonogram

  14. Genetic Sonogram Target U/S examination Presence of fetal structural anomalies Presence of aneuploidy markers

  15. Genetic Sonogram Sensitivity Positive LR FPR 7.2 6.4 4.9 8.2 5.7 3.9 9.1 5.9 7.0 11.9 17.0 13% 14% 17% 10% 12% 17% 9% 12% 13% 6.7% 4.8% 93% 90% 83% 82% 68% 67% 82% 71% 91% 79.9% 81.8% Vintzileos/1996 Bahado-Singh/1996 Bromely / 1997 Verdin/1998 Nyberg//1998 Sohl/ 1999 Vintzileos/1999 Wax/2000 De Vore/2001 Benn/2002 Bahado-Singh/2002

  16. Genetic Sonogram Prenasal thickness Nuchal fold thickening Hyperechoic bowel Echogenic intracardiac focus Shortened humerus and femur Widenediliac angle Structural anomalies

  17. Genetic Sonogram Renal Pyelectasis Choroid plexus cyst Hypoplasia of middle phalanx of 5th finger Clinodactyly Sandal gap

  18. Genetic Sonogram Positive LR Nuchal fold thickening Shortened humerus Hyperechoic bowel EIF Shortened femur Renal pyelectasis Choroid plexus cyst 17 (8-38) 7.5 (4.7-12) 6.1 (3.0-12.6) 2.8 (1.5-5.5) 2.7 (1.2-6.0) 1.9 (0.7-5.1) 1.0 (0.12-9.4)

  19. Prenasal Thickness

  20. Prenasal thickness increases on average in DS fetuses Detection rate 58% FPR 5% Prenasal Thickness PT/NB ratio increases Detection rate 63% FPR 5% Maymon et al. Prenat Diagn. 2005 Aug 8; [Epub ahead of print]

  21. Prenasal Thickness

  22. Nuchal Fold Thickening

  23. Nuchal Fold Thickening GA 15-20 weeks Abnormal thickness NT > 6 mm. The most sensitive and important marker

  24. < 0.9 Measured HL Expected HL Shortened Humerus

  25. Hyperechoic bowel

  26. Echogenic Intracardiac Focus

  27. < 0.91 Measured FL Expected FL Shortened Femur

  28. Renal Pyelectasis

  29. GA 16-20 weeks > 4 mm. GA 20-30 weeks > 5 mm. GA 30-40 weeks > 7 mm. Renal Pyelectasis

  30. Choroid Plexus Cyst

  31. WidenedIliac Angle

  32. Iliac angle > 70 0 Detection rate 63% FPR 22% Iliac angle > 80 0 Detection rate 80% FPR 2% Iliac angle > 90 0 Detection rate 91% FPR 5% WidenedIliac Angle

  33. Omphalocele Duodenal atresia Structural Anomalies

  34. Structural Anomalies

  35. Middle phanlanx of 5th finger Clinodactyly

  36. Sandal Gap

  37. Genetic Sonogram Positive LR Nuchal fold thickening Shortened humerus Hyperechoic bowel EIF Shortened femur Renal pyelectasis Choroid plexus cyst 17 (8-38) 7.5 (4.7-12) 6.1 (3.0-12.6) 2.8 (1.5-5.5) 2.7 (1.2-6.0) 1.9 (0.7-5.1) 1.0 (0.12-9.4)

  38. 3-Dimensional Ultrasound

  39. Help to adjust the a priori risk of the woman carrying a fetus with DS Genetic sonogram CANNOTbe used to diagnose or exclude aneuploidy

  40. Thank You