Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Git mu kh
trong sng lc trc sinh

1 2009 PerkinElmer

Ni dung

Trung tm no ang thc hin XN

sng lc trc sinh bng git mu
kh (DBS)

Tnh thc tin ca XN SLTS bng git

mu kh

Gi tr lm sng v hiu qu pht hin

cc bt thng

ng dng

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Qui trnh SLTS bng git mu kh

Trung tm thu thp mu

Ly mu u DNG C
Mu giy
ngn tay HOC LY GIT Phi kh Gi mu
thm
MU

Trung tm xt nghim

Bm l Ho cht AutoDELFIA HOC DELFIA

3 V nh gi nguy c.

NTD labs New York USA

NTD SLTS bng git mu kh

hn 20 nm

75% SLTS trong qu 1 c

thc hin trn mu mu kh

nh gi hiu qu XN SLTS qu 1
trn mu mu kh (AJOG 2006)

XN chnh xc v c nhy cao

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

CGC B o Nha

SLTS s dng mu mu kh t nm 2001

5 Mt trong nhng trung tm xt nghim ln nht Chu u

TT chn on trc sinh Palermo,

Dott. Francesco Orlandi, Gim c lm sng

cng tc lu di vi

10,000 ca SLTS qu 1 thai k hng nm

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Warnex Quebec, Canada

25,000 ca SLTS qu 1 mi nm

L trung tm nghin cu

Nhng ai ang c th hng SLTS bng git mu kh?

M 75% tt c cc mu SLTS qu 1
a s l cc tnh nguyn vin tham gia th nghim FASTER

Nga
Ekaterinburg, Krasnoyarsk, Novosibirsk, Saratov

B o Nha
CGC Genetics

Orlandi Clinic

Canada
Warnex (Montreal, Quebec)

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Nhng quc gia ang nh gi a DBS vo chng trnh SLTS

Trung Quc

Ukraine

H Lan

Ty Ban NHa

Hi Lp

Brazil

Argentina

L do nn dng mu mu kh

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Hiu qu kinh t & ly mu, thu thp, vn chuyn v lu tr mu

Huyt thanh
Chi ph v cc vn
lin quan

Mu mu kh
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Ti sao sng lc bng mu mu kh?

Ly mu n gin, khng cn quay li tm

D dng hn, an ton hn, hiu qu kinh t hn

trong vn chuyn

Gim cht thi sinh hc

Ly mu u ngn tay cn t mu hn

T l pht hin bt thng cng tng ng

(Perni et al 2006)

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

SLTS qu 1 c bn v lm sng

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Tnh n nh ca hCG t do trong huyt thanh

A B

A) Anh: iu kin kh hu t nh hng n trung v MoM hCG t do

B) n : kh hu thay i theo ma nh hng ng k n trung v MoM

hCG t do

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

nh hng ca tnh n nh hCG ln nng hCG t do

Tng nng hCG t do

15 Tng t l dng tnh gi

Tnh n nh ca hCG t do Stability ci thin ng k khi s dng DBS

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Cowans tnh n nh ca hCG t do trong huyt thanh

hCG t do trong huyt thanh

-hCG t do v PAPP-A u n nh
trong huyt thanh khi dng trong sng
lc thng qui
trong iu kin 4C v thi gian
vn chuyn ngn nht
Nng -hCG t tng kh nhanh
nhit phng do s phn li ca phn
t hCG

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Kt qu ca hCG t do trong mu mu kh

hCG t do n nh
trong mi iu kin khi
kho st sau t nht 35
ngy, vi sai lch cho
php < 10% so vi
thi im va mi ly
mu
So vi huyt thanh th
hCG t do trong mu
mu kh cao n nh
hn nhiu

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Kt qu ca PAPP-A trong mu mu kh

PAPP-A n nh khi
gi lnh hoc -
20C trong t nht 30
ngy
Nng PAPP-A gim
10% sau 4.1 ngy
nhit phng v sau
3.9 ngy 30C.

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iu kin phi kh mu xt nghim PAPP-A v hCG t do

Nhit : 20-32C
m : 70%

Hin ang nghin cu ng dng dng c lm kh mu phc v cho nhng ni

khng p ng c cc iu kin trn

20 In press, Spencer et al

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Orlandi/NTD Study UOG 1997

L mt trong nhng nghin cu tin

cu u tin v SLTS trn 2010 thai
ph. Mu mu kh ly t u ngn tay.

Ttrung tm NTD pht trin k thut

ELISA

Ch 1/3 mu nghin cu l c c d
liu NT (774) 11 ca T21. Ch c 7 ca
c NT

Vi t l dng tnh gi 5%, t l pht

hin bt thng l 61% /v XN sinh
ho, 75% /v NT v 87% khi kt hp

21

Krantz/NTD study Obstet Gynecol 2000

Cc nghin cu tin cu 1995-1998. 10,251 thai

ph. Mu mu kh mu u ngn tay hoc
mu tnh mch c dng dng c nh git mu

Trung tm NTD pht trin k thut ELISA

Ch mu nghin cu l c d liu (5809) 33

ca b T21. 13 ca T18

30/33 (91%) ca T21 c pht hin, dng tnh

gi 7.9%

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Perni, Chervenak, Chasen, AJOG 2006

H Cornell, USA

nh gi hiu qu ca XN sng lc kt hp ca qu
1 ti 1 trung tm

4883 thai ph c xt nghim sng lc kt hp

trong qu 1 s dng mu ton phn, git mu kh

KT QU: trung v tui thai ph l 33 v 22 thai

c chn on T21

T l pht hin: 90.9% ,t l dng tnh gi 5%

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Krantz, Prenatal Diagnosis 2011

K thut mi min dch hunh quang

NC hi cu trn 54 ca T21, 1064 ca

chng

Sng lc thng qui 146,513 thai ph

thit lp phn b ca cc thng s

Kt hp vi NT. T l pht hin 92%-

90% /v thai t 9 n 13 tun

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

So snh s phn b cc thng s vi d liu c cng b

PAPP-A Unaffected SD (log10) Free hCG Unaffected SD (log10)

Publication N SD Publication N SD
Malone 2005 89 0.2214
Dual DBS Assay 758 0.1909
Orlandi 2005 10000 0.2177
Weinans 2005 16953 0.225
Biagiotti 1995 246 0.2208
Gyselaers 2005 12781 0.2361
Forest 1997 500 0.2498
Avgidou 2005 1564 0.237
Brambati 1994 89 0.2573
Dual DBS Assay 758 0.2403
De Biasio 1999 1454 0.26
Wojdemann 2005 673 0.2415
Spencer 2002/2003 13073 0.2613
Orlandi 2005 30234 0.2454
Wald 2003 425 0.2651
Borrell 2004 425 0.2495
Wheeler 1998 673 0.2654
Scott 2004 1454 0.25 Avgidou 2005 30234 0.2661
Muller 2003 3169 0.251 Biagiotti 1998 200 0.2676
Wald 2003 267 0.2543 Muller 2003 5634 0.269
Spencer 2002/2003 10000 0.2558 Crossley 2002 16912 0.269

Crossley 2002 377 0.2659 Weinans 2005 320 0.2727

Tsai 2001 5636 0.267 Haddow 1998 3169 0.275

Tsukerman 1999 200 0.2868 Wald 1996 383 0.2833

De Biasio 1999 320 0.2923 Tsukerman 1999 11659 0.295

Casals 1999 136 0.3041
Casals 1999 500 0.3597
Juaniaux 1996 51 0.3474
Overall 84642 0.2442
Overall 95158 0.2655

25 DELFIA/AutoDELFIA PAPP-A/Free hCG Dual DBS kit : FTS- DR 90% FPR 5%

Gi tr ca mu mu kh
CVs (h s bin thin) v SD ( lch chun)

SD nh = marker tt

Nhng yu t nh hng ln SD
S bin thin sinh hc (khng th khng
ch c)
Bin thin do thao tc v vn chuyn (tnh
n nh) mu mu kh tt hn
Bin thin do xt nghim (CV) mu mu
kh tt hn
26 Clinical performance of DBS = Serum

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

lch chun (SD) nh = marker tt

DBS HT
Serum

SD nh ng gp
SD nh Bin thin do khu
tch cc nhiu SD ln
Higher SD thao tc/ vn chuyn
hn..
CV ln CVs ln CVs thp
nh gi trn lm sng

27 Hiu qu pht hin bt thng l tng ng

ng dng

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Chng nhn ca FMF /UKNEQAS

Chng nhn ca FMF

ang ch cng b nghin cu ca Spencer/Wright
chng minh DBS tng ng vi huyt thanh

Cc thng s ca DBS
Hin c trong phn mm LifeCycle
S c tch hp vi phn mm FMF

Chng trnh th im DBS bt u t nm

2010
15 phng xt nghim tham gia
Min ph

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Qualifications

DBS c ng dng m rng chng trnh sng lc

DBS khng thay th sng lc trn huyt thanh mt khi qui trnh
SL trn huyt thanh thc hin tt

DBS khng thc hin c /v PlGF

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Kt lun

DBS s dng trong sng lc s sinh hn 50 nm qua

DBS s dng trong sng lc trc sinh gn 20 nm qua

DBS l s thay th tuyt vi ca huyt thanh, c bit vng su

vng xa

Gi tr lm sng tng ng vi huyt thanh

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Thank you

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Back up slides

33

CVs, SDs and Detection Efficiency

Did you know..

Research has shown that the

preanalytical phase of the
sample process accounts for
more than two thirds
of laboratory errors.

34

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 Hi tho Sng lc trc sinh v sau sinh, ngy 15-12-12

Detection Efficiency

A function of 3 elements

Pre- False Post-

Detection
Analytical
Analytical Positive Analytical
Rates
Phase
Phase Rates Phase

Patient status Test performance Interpretation

Pre-Analytical Phase + Analytical Phase + Post-Analytical Phase
Specimen collection Analytical Reporting
Specimen transport procedure
to the laboratory Internal QC
Specimen processing External QC

35 Careful sample collection VERY important!

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