Conceptual & technical advances in Down’s syndrome screening Howard Cuckle

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Presentation transcript:

Conceptual & technical advances in Down’s syndrome screening Howard Cuckle

Unaffected Affected Marker level

Separation or Inter-mean SDs Marker level

Unaffected Spina bifida Anencephaly AFP (MoM) UK Collaborative AFP Study, 1977

Separation (SD's) Anen- cephaly Spina bifida

Separation (SD's)

Maternal age Down's syndrome Unaffected 35

Unaffected Affected Likelihood ratio Marker level

Separation (SD's)    

Gestational age  AFP, uE 3, freeß & inhibin

Detection rate 5% false-positives1% false-positives  

Separation (SD's)   

Gestational age  PAPP-A & freeß NT

Detection rate 5% false-positives1% false-positives    

Gestational age PAPP-A & hCG NT 

Detection rate 5% false-positives1% false-positives    

Non-viable Insignificant1 in 100,0001 in 10,0001 in 1,0001 in 1001 in 10Certain Down's syndrome Unaffected

 34 studies 2,400k women 9 studies 77k women 

Separation (SD's)       

Gestational age PAPP-A alone  AFP, uE 3, freeß & inhibin

Detection rate 5% false-positives1% false-positives      

Gestational age PAPP-A & freeß AFP, uE 3, freeß & inhibin  

Detection rate 5% false-positives1% false-positives        

Gestational age    PAPP-A & freeß AFP, uE 3, freeß & inhibin  

Detection rate 5% false-positives1% false-positives          

   FaSTER Malone et al, 2005

Separation (SD's)

Gestational age NF & NBL

Detection rate 5% false-positives1% false-positives    

Even more contingent strategies are coming your way soon

Gestational age    PAPP-A & freeß

Detection rate 5% false-positives1% false-positives      

Gestational age DV & TR NT, NB & FMF

Detection rate 5% false-positives1% false-positives    

Gestational age  NT   DV & TR NB & FMF

 Fetal Medicine Foundation Nicolaides et al, 2005 

Separation (SD's)

Gestational age PAPP-A & ADAM12 free ß-hCG

Detection rate 5% false-positives1% false-positives    

Gestational age   PAPP-A & ADAM12 free ß-hCG 

Detection rate 5% false-positives1% false-positives      

Gestational age  NF & NBL  

Detection rate 5% false-positives1% false-positives        

Separation (SD's) Gestation (weeks)

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

Down’s syndromeUnaffected pregnancies 10 weeks PAPP-A (MoM) 17 weeks PAPP-A (MoM)

weeks PAPP-A (MoM) 17 weeks PAPP-A (MoM)

Single gene Heart NTD Aneuploidy

Detection rate 5% false-positives10% false-positives