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

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

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

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

  2. 100 0.5 1 5 10 50 0.1 Unaffected Affected Marker level

  3. 100 0.5 1 5 10 50 0.1 Separation or Inter-mean SDs Marker level

  4. 0.06 0.25 1 4 16 64 Unaffected Spina bifida Anencephaly AFP (MoM) UK Collaborative AFP Study, 1977

  5. Spina bifida Anen-cephaly Separation(SD's)

  6. 10 11 12 14 Separation(SD's)

  7. Unaffected 35 Down'ssyndrome 15 20 25 30 35 40 45 50 55 Maternal age

  8. 100 0.5 1 5 10 50 0.1 Unaffected Affected Likelihood ratio Marker level

  9. 10 11 12    14  Separation(SD's)

  10. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age  AFP, uE3, freeß & inhibin

  11. Detection rate   5% false-positives 1% false-positives

  12. 10   11 12 14 Separation(SD's)

  13. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age  PAPP-A & freeß NT

  14. Detection rate     5% false-positives 1% false-positives

  15. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age  PAPP-A & hCG NT

  16. Detection rate     5% false-positives 1% false-positives

  17. Insignificant 1 in 100,000 1 in 10,000 1 in 1,000 1 in 100 1 in 10 Certain Unaffected Down'ssyndrome Non-viable

  18.  9 studies 77k women 34 studies 2,400k women

  19. 10   11 12    14  Separation(SD's)

  20. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age  PAPP-A alone AFP, uE3, freeß & inhibin

  21. Detection rate       5% false-positives 1% false-positives

  22. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age     PAPP-A & freeß AFP, uE3, freeß & inhibin

  23. Detection rate         5% false-positives 1% false-positives

  24. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age          PAPP-A & freeß     AFP, uE3, freeß & inhibin

  25. Detection rate           5% false-positives 1% false-positives

  26. FaSTER    Malone et al, 2005

  27. 10 11 12 14 Separation(SD's)

  28. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age NF & NBL

  29. Detection rate     5% false-positives 1% false-positives

  30. Even more contingent strategies are coming your way soon

  31. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age     PAPP-A & freeß

  32. Detection rate       5% false-positives 1% false-positives

  33. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age NT, NB & FMF DV & TR

  34. Detection rate    5% false-positives 1% false-positives

  35. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age     NB & FMF NT  DV & TR

  36. Fetal Medicine Foundation   Nicolaides et al, 2005

  37. 8-9 10 11-3 14 Separation(SD's)

  38. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age free ß-hCG PAPP-A & ADAM12

  39. Detection rate    5% false-positives 1% false-positives

  40. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age     free ß-hCG PAPP-A & ADAM12 

  41. Detection rate      5% false-positives 1% false-positives

  42. 7 8 9 10 11 12 13 14 15 16 17 18 19 20 Gestational age      NF & NBL

  43. Detection rate         5% false-positives 1% false-positives

  44. Gestation (weeks) Separation(SD's)

  45. Gestation (weeks) Mrs B Mrs A Separation(SD's)

  46. 0.01 10 5 1 0.5 0.1 0.05 0.1 0.5 1 5 10 17 weeksPAPP-A (MoM) Down’s syndrome Unaffected pregnancies 10 weeksPAPP-A (MoM)

  47. 0.01 10 5 1 0.5 0.1 0.05 0.1 0.5 1 5 10 17 weeksPAPP-A (MoM) 10 weeksPAPP-A (MoM)

  48. Single gene Aneuploidy Heart NTD

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