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Conceptual & technical Conceptual & technical advances in Down’s advances in Down’s syndrome screening syndrome screening Howard Cuckle Howard Cuckle [email protected] [email protected]

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Conceptual & technical advances in Down’s syndrome screening Howard Cuckle [email protected]. 100. 0.5. 1. 5. 10. 50. 0.1. Unaffected. Affected. Marker level. 100. 0.5. 1. 5. 10. 50. 0.1. Separation or Inter-mean SDs. Marker level. 0.06. 0.25. 1. 4. 16. 64. - PowerPoint PPT Presentation

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Page 1: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Conceptual & technical Conceptual & technical advances in Down’s advances in Down’s syndrome screeningsyndrome screening

Howard CuckleHoward [email protected]@leeds.ac.uk

Page 2: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk
Page 3: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Unaffected

Affected

Marker level

1001 100.5 5 500.1

Page 4: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

1001 100.5 5 500.1

Separation or Inter-mean SDs

Marker level

Page 5: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0.06 1 160.25 4 64

Unaffected

Spina bifida

Anencephaly

AFP (MoM) UK Collaborative AFP Study, 1977

Page 6: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

Anen-cephaly

Spina bifida

Page 7: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

10

14

11

12

Page 8: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

15 20 25 30 35 40 45 50 55

Maternal age

Down's syndrome

Unaffected

35

Page 9: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Unaffected

Affected

1001 100.5 5 500.1

Likelihood ratio

Marker level

Page 10: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

10

14

11

12

Page 11: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

AFP, uE3, freeß& inhibin

Page 12: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 13: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

10

14

11

12

Page 14: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & freeß

NT

Page 15: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 16: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & hCG

NT

Page 17: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 18: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Non-viable

Insignificant 1 in 100,000 1 in 10,000 1 in 1,000 1 in 100 1 in 10 Certain

Down's syndrome

Unaffected

Page 19: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

34 studies 2,400k women

9 studies 77k women

Page 20: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk
Page 21: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

10

14

11

12

Page 22: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A alone

AFP, uE3, freeß& inhibin

Page 23: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 24: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & freeß

AFP, uE3, freeß& inhibin

Page 25: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 26: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & freeß

AFP, uE3, freeß& inhibin

Page 27: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 28: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

FaSTER

Malone et al, 2005

Page 29: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

NF

NBL

Separation (SD's)

10

14

11

12

Page 30: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

NF & NBL

Page 31: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 32: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Even

more

contingent

strategies

are

coming

your

way

soon

Page 33: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & freeß

Page 34: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 35: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

DV & TR

NT, NB & FMF

Page 36: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 37: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

NT

DV & TR

NB & FMF

Page 38: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Fetal Medicine Foundation

Nicolaides et al, 2005

Page 39: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

ADAM12

PAPP-A

PAPP-A

freeß

NT

hCG

AFP

uE3

freeß

hCG

Inhibin

Separation (SD's)

8-9

14

10

11-3

Page 40: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & ADAM12

free ß-hCG

Page 41: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 42: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

PAPP-A & ADAM12

free ß-hCG

Page 43: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 44: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

7 8 9 10 11 12 13 14 15 16 17 18 19 20

Gestational age

NF & NBL

Page 45: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives 1% false-positives

Page 46: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

9

10

11

12

13

14

15

16

17

Separation (SD's)

Gestation (weeks)

Page 47: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0 0.5 1 1.5 2 2.5 3 3.5

9

10

11

12

13

14

15

16

17

Separation (SD's)

Gestation (weeks)

Mrs BMrs A

Page 48: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

100.1 10.05 0.5 50.1

1

0.5

5

10Down’s syndrome Unaffected pregnancies

10 weeks PAPP-A (MoM)

17 weeks PAPP-A (MoM)

Page 49: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

100.1 10.05 0.5 50.1

1

0.5

5

10

10 weeks PAPP-A (MoM)

17 weeks PAPP-A (MoM)

Page 50: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

Single gene

Heart

NTD

Aneuploidy

Page 51: Conceptual & technical advances in Down’s syndrome screening Howard Cuckle h.s.cuckle@leeds.ac.uk

0%

20%

40%

60%

80%

100%

Detection rate

5% false-positives10% false-positives


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