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Genetic Sonogram. ผศ . พญ . รัตนา คำวิลัยศักดิ์. การประชุมวิชาการ ครั้งที่ 21 ประจำปี 2548 วันที่ 11 ตุลาคม 2548 ณ ห้องบรรยาย 3 คณะแพทยศาสตร์ มหาวิทยาลัยขอนแก่น. Second trimester • Double test • Triple test • Quadruple test • Genetic sonogram. First trimester

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slide1

Genetic Sonogram

ผศ.พญ.รัตนา คำวิลัยศักดิ์

การประชุมวิชาการ ครั้งที่ 21 ประจำปี 2548

วันที่ 11 ตุลาคม 2548

ณ ห้องบรรยาย 3

คณะแพทยศาสตร์ มหาวิทยาลัยขอนแก่น

slide2

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

slide4

Nuchal translucency

Nasal bonehypoplasia

First TrimesterU/S Screening

slide6

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.

slide7

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.

slide10

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.

slide14

Genetic Sonogram

Target U/S examination

Presence of fetal structural anomalies

Presence of aneuploidy markers

slide15

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

slide16

Genetic Sonogram

Prenasal thickness

Nuchal fold thickening

Hyperechoic bowel

Echogenic intracardiac focus

Shortened humerus and femur

Widenediliac angle

Structural anomalies

slide17

Genetic Sonogram

Renal Pyelectasis

Choroid plexus cyst

Hypoplasia of middle

phalanx of 5th finger

Clinodactyly

Sandal gap

slide18

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)

slide20

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]

slide23

Nuchal Fold Thickening

GA 15-20 weeks

Abnormal thickness

NT > 6 mm.

The most sensitive

and important marker

slide24

< 0.9

Measured HL

Expected HL

Shortened Humerus

slide27

< 0.91

Measured FL

Expected FL

Shortened Femur

slide29

GA 16-20 weeks > 4 mm.

GA 20-30 weeks > 5 mm.

GA 30-40 weeks > 7 mm.

Renal Pyelectasis

slide32

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

slide33

Omphalocele

Duodenal atresia

Structural Anomalies

slide37

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)

slide41

Help to adjust the a priori risk of the woman carrying a fetus with DS

Genetic sonogram CANNOTbe used to diagnose or exclude aneuploidy