Genetic Sonogram ผศ.พญ.รัตนา คำวิลัยศักดิ์

งานนำเสนอเรื่อง: "Genetic Sonogram ผศ.พญ.รัตนา คำวิลัยศักดิ์"— ใบสำเนางานนำเสนอ:

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

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

3 First Trimester U/S Screening

4 First Trimester U/S Screening
Nuchal translucency Nasal bone hypoplasia

5 Nuchal Translucency

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

7 Nuchal Translucency Accuracy depends on measurement technique
Intra-observer variability to Inter-observer variability Mean duration of measurement 8-12 min. Suntharasaj et al. Gynecol Obstet Invest 2005;60:

8 Nuchal Translucency X  X

9 Nasal Bone Hypoplasia

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

11 Nasal Bone Hypoplasia

12 Second Trimester U/S Screening

13 Genetic Sonogram

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

15 Genetic Sonogram Sensitivity FPR Positive LR 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 93% 90% 83% 82% 68% 67% 71% 91% 79.9% 81.8% 13% 14% 17% 10% 12% 9% 6.7% 4.8% 7.2 6.4 4.9 8.2 5.7 3.9 9.1 5.9 7.0 11.9 17.0 Sensitivity FPR Positive LR

16 Genetic Sonogram Prenasal thickness Nuchal fold thickening
Hyperechoic bowel Echogenic intracardiac focus Shortened humerus and femur Widened iliac 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 17 (8-38)
Shortened humerus Hyperechoic bowel EIF Shortened femur Renal pyelectasis Choroid plexus cyst Positive LR 17 (8-38) 7.5 (4.7-12) 6.1 ( ) 2.8 ( ) 2.7 ( ) 1.9 ( ) 1.0 ( )

19 Prenasal Thickness

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

21 Prenasal Thickness

22 Nuchal Fold Thickening

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

24 Shortened Humerus Measured HL Expected HL < 0.9

25 Hyperechoic bowel

26 Echogenic Intracardiac Focus

27 Shortened Femur Measured FL Expected FL < 0.91

28 Renal Pyelectasis

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

30 Choroid Plexus Cyst

31 Widened Iliac Angle

32 Widened Iliac Angle Iliac angle > 70 0 Detection rate 63% FPR 22%

33 Structural Anomalies Omphalocele Duodenal atresia

34 Structural Anomalies

35 Clinodactyly Middle phanlanx of 5th finger

36 Sandal Gap

37 Genetic Sonogram Positive LR Nuchal fold thickening 17 (8-38)
Shortened humerus Hyperechoic bowel EIF Shortened femur Renal pyelectasis Choroid plexus cyst Positive LR 17 (8-38) 7.5 (4.7-12) 6.1 ( ) 2.8 ( ) 2.7 ( ) 1.9 ( ) 1.0 ( )

38 3-Dimensional Ultrasound

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41 Genetic sonogram CANNOT be used to diagnose or exclude aneuploidy
Help to adjust the a priori risk of the woman carrying a fetus with DS

42 Thank You