ผศ . พญ . รัตนา คำวิลัยศักดิ์

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

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

42. Thank You