!"#$%&'"!"#$%&'(
2
!" 4!"#$%&'() 5!"#$%& 6!" 6!" vs!" 8!"#$ 9! 9!"#$% 11!"# 11!" 14!"#$%&'(" 15 AFP 15 ue3 16 -A 17 hcg 18 β-hcg 18 PAPP-A 19!"# 20!"# 21!"#$%& (NT) 21! 22!"#$%&'() 22 NTD! 23! 24! 25! MoM's 25!"#$%&'()*+,-. 26!"#$%&'( 30!"# 30!"#$ 30 32! 36 3
!" Screening!"#$%&'()*+,-./01"234567!"#$%&'!"#$%&'()*+,-./0!"#$%!"#$%&'!"#$%!"#$%&'()*+,-./0!"#$!"#$%&'()*+,-.!"#$%!!!"!"#$%&'(")*+,!"#$%&'()*+,-!"!"#$%&'(!"#$%&'()*!"#$%&'(!"#$!"#DS!"#$%&'(!)!"#$ NTD's!"#$%&'()*+, 11!"#$%&'()!"#$%&!"#$%&'()*+,-./0123,AC!CVS!"#!"#$%&'()*!"#$%&!"#!"#$%&!"#$%&'()*+,-./012!"#$ 4
!"#$%&' ()*+,-./0!"#$%&!"#!"#!"#$%&'()!"#$%&'(!"#$%!"#$%&'()*+,-.!"#$%&'()?!"#$%&'()*+,-./!"#$%&'()*+,-./!"#$%&'()*+,-!"#$%&'()*+,-./01234567!"#$%&'(!"!"#$%&'()!"#$%&'()!"#$%!"#$%&'()!"#$%&'()*+,-.!"#!"#$%&'()*+,-./01234567879:;!"#$%&'()*+,$%-."/-0!"#$%&'(!"#$%&'()*+,-./!"#$%$&'()*!"#$%&'()*+,-./!"#$%&'()*+,-./!"#$%&'!"#$%&'()*+,!!"#$%&'()*+, 5
!"#$%&!"#$%&'()*+,-./01)2!"#$%&'()*!"#$%&'()*+,-./0!"#$%&'()*+,- 35!"#$%&'()*!"#$%&'()*+,!"#$%&!"#$!"#$%&'()*+,!"#$!!!"#$%&'()*+,-!"#$!%&#'()*+,-.!"#$%&'()*+,-!"#$%&'()*+!"#$!"#$%&'()*!"#$%&'()*+,-./0*123!"#$%&'()*+!"#$ %"&'()"*+,!"#$%&'()*+,-./!"#$%!"#$%&'()*+!"#$%&'!"#$%&'!"#$%&'$()*+,-.!"#$%&!"#$%&'()*+!"#$%&'()*+,!"!"!"#$%&'()!"!"#$%&'(!"#$%&'()*+,-./01234!"!"#$%&'()*+,-./0!!"#$%&'()*+,-./%0!"#$%&'()*!"#$%&'()*+,-!"#$%&'()*+!"#$!"#$%&'()*+,-./012!"#$%&'()*+ DR!"#$%FPR! 6
!"#!"# Mahalinobis!"#$%&'()*+,!"#$"%&'()*+,-./012 Mahalinobis!"#$%&'()*+,-./012&3'45678 Mahalinobis!"!"#$%&'(!"#$%&'()! Mahalinobis 1.25-1.36 [16]!"#$%&'!!"#$%&'!"#$%&'()*+,-./0 Mahalinobis! 1 [16]!"#$!"# 35 DR 30% FPR! 15-20%!"!"#$ 7
!"#$%!"#$%&'()%*+,-./0!"#&'123!"#$%!"#$!"#$%&'()*+,-!"#$%&!FPR 5!"# (DR) NT 60 % NT + PAPP-A 79 % NT + PAPP-A + hcg 80 % NT + PAPP-A + β-hcg 83 % 10!"#$%&'()*+,-./ [! 57]!" vs!"!"#$% 40!"#$%!!!"#$%&! 12!!!" 13 27!!! 28!"#!"#$%!"#!"!"#$!"#$%!"!"#$%&'()*+,-./0#123456789:;!"#$%&!"#$%&'()*+! β-hcg PAPP-A!"#$%&'()*+,-./012 18!"#$%&'(!"#$%&'NT!"#$%&'() [!"10, 37, 59]!"!"#$%&'()*+,-./01*216-20!" AFPhCG β-hcgue3! -A!"#$%&'( 15-18!"#$%&!"#$%&'()*+,-./01'2 15 8
!"#$!"#$%&'()*$+,-./01!"#$%&'()*!!"#$%&!"#$%&'()*+&',-!"!"#$%&'()*+,-./01NT! 21!"#!"#$%&'()*+,"-./0,12!"#$%&'()!"#$%&'()*+,-./0!"#!"#$%&'(!"#$%&'&()*+,-.)/01!!!"#$%&'(!"#$!"#$%&!"#$%&'()*+!,-./012!"#$%&'NT!"#$%&!!"!"#$%&'()*+,-./0123456789:;$!"#$%&'()*+,!"#!"#$%&!!"#$%&!"#!"#AC!"#$%&'()*+,-./!"#$%&!!"#$%&'()*+,-./012345678!"#$ 15!"#$% 9
!"#$%!"#$!"#$%!&'(!"#$%&'! 15!!"#$%&'()!"#$%!"#$!"#$%&'!"#$%&'()'*+,-.!"#$%!"#$%&'()!!CVS!"#$%&'!"#$%&'()*+!"!"#$%!"#$%&'()*+!"# 10!"#$%&'!"#$%&'()*+,-./01 CVS!"#$%&'()*+!"#$%&CVS!"#$%&'()!"#$!" 10!"#$%&!"#$%&'()*!"#$%&'()"*+!"#$%&'()*+,"-. AC CVS!"#$%!"#$%&'()*+,-.!"#$%&'!"#$%&!"#$!"#$%&'!"#$%!"#$%&"#'()!"#$% 13!"!"#$%!"#$%&'()*!"#$%&'()3!"#$%&!2-3!"#$!"#$%&'()*+,-FISH PCR QR-PCR!"#$%&'($)*+!"#$%!"#$%&'( 10
!"#$%!"#2!"#$%&'()*+,!"#$%!&'()*+!"#$%&'()*+%&,-./0%&1!"#NTD's!" #$%& 3!"#$%&$'() 2 3.88 4.79 5.84!" 8.98!"#$ 9.15!"# 61.06!" 12.59! 16.87! 21.47 37.6!"#$% 22.46!"#$! 28.66 30.85!"#$%&'(!"#$%&'()*+,-http:www.eurocat.ulster.ac.uk 1992-2001!"#$!"#$%&'(!"#!"#$%&'()*+,-.!"#$ 20!!"#!"#$%&' ()*+ 11
Klinefelters 0.89!" 18.17!"#$%!& 1.37 Patau 1.47 Turner's 1.94!"#!"!" 2.18 Edward 3.58!"#$%&'#($ )$*!!"# 1.2! 2.07 5.23!" 9.82 4.97!"#$%& 3.62 1.23!"#!"#$% NTD! 23!" 22!"#$%&'()*+ 23!"#!" X!!"#$ X Y!"#$!"#$%&'() *+,-.!"#$%&'!"#$%&!"#!"#$%&'!"#$%&'()*+!,-./01!!"#$%&'()* 21 21!"#$%!"#$%&'()*+,- 21!"#$!"#$% 1/700!"#$%&'()*+ 12
21!"# 21!!"#$%&'()*+,-./0!"#$%&'()*+,90!"#$%&'!"#$%&' 60! 18 18 Edward's!!"#$%&'( 18!"#$%&!"!"#$%&'()!"!"#$% IQ!"!"95!"#$%&'()*+ 13 13 Patau's!!"#$%&'( 13!"#$13!"#$%&'()*+,-.!"#$!"! 20!"#$ %&!"#$%&'( 13
!"#$%!"NTD's!"#$!"#$!"#$%&'()*+,-!"#$%&'()*!"#!"#$%&'()*!"#$%&'()!"#$%&'()!"#$%&'(!"#$%&'()!"#$%&'!"#$%&'!"#$%&!!!" # 15!"#$%&'!()*+%,-./01!"#$%&'(!"#$%&'!"#$%!"#$%&'()!"#$% AFP 15!"# AFP!"#$%&'()*%+!"#$%&'()*+,$- AFP!"#!"#$%&'() AFP!"#$%&'! AFP!"#$%&'()*+,-!"#$%&'()*+,-.!"#$%&'!"#$!"%!"#!"#$%&'()*!"AFP!"#$%&'() 14
!"#$%&'("!"#$%&'()*+,-./0123456789:;<= a)!"#$%&'!"#$%&'()"*+,-./ b)!"#$%&'!()*+%,-./0 c)!"#$%&'()!"#$%&'(!"#)*!"#$%&'(")*+,-./ 1) AFP 15-20 2) ue3 15-20 3) Inhibin-A 15-20 4) hcg 15-20 5) Free β-hcg / 10-20 6) PAPP-A 8-13 AFP!"hAFP!"#$%&'()!"#$%&'()*+,!"#$%& [18]!"!#$%&'()*+!"#$%& hafp 590!"#$%&'(! 65000!"#$%& 3-4!"#!"# $%&'()*+,-&.!"#$!"#$%&!"#$%&'()*hafp!"#$%&'( 40!"#!"#$%&'()*+,!"#$%&'(!" [34, 46, 60] 15
!"#$AFP! hafp!"#$%!"#$%&'!"!"#$ [2, 35, 46]!!"#$%&'!"#$%& hafp [42, 46, 48]!"!"#$%&'()*(+!" hafp!"#$ 30 [11, 12, 15]!"hAFP!"#$%&'!"#$%&'()*!"!" hafp!"#$%& [25] ue3! ue3!"#$%&'()*+!"#$%16α- OH DHEA16-!"#$%&'!" 16α-OH DHEA 16α-OH DHEA-S16-!"#$%&'(!"#$!"#$%&!uE3!"#$%&'()*+, -./01234.567!"#$%&'()*+,-.!/!"#$%&'()*!"#$%&'()*+,-20-30!"#$%&'()*+,!"#$%&'()&*+ [17, 26, 61] 16!"#$% ue3!"#$%&'!"!"#$%&'!"()!"#$%&'()*!"ue3!"#$ 9!"#$%&'(!"#$!"#$%!"#$%&'()* + [3, 19, 26]
!"#$%&'ue3!"#$%&'()*+,-./ [8, 13, 15, 21, 56] ue3!"#$%&'()*+,-!"#$%&'!"#$%! ue3 SLOSSmith-Lemli-Opitz! SLT!"#$%&'(!"#$%&'()*+,-./01234!!"!"#$%&'()*+,-./0(123456 [3, 9, 24, 27] Inhibin-A -A!"#$%&'()* +,#-.'(/012#3456789!"#$%&'()*++,FSH!!"#$%&'()* 7, 55!"#$ %&'32KD!"#$ β A! -A β B!-B!"#$%&'()*+!"#$%&!"#!!"#$%&'()*+ β!"#$%&'()!"#$%&'( [28, 43, 44, 47] -A!"#$%&'&()*+ [20, 33]!"#$% - A!"#$%&'()*+,-./0 [22, 30, 31, 32, 36, 45]!"#$!"#$ -A!"#$%&'( [55]!"#$% Inhibin-A 17
hcg!"#$%&hcg!"#!"#$%&'!"#$%!"#$%&'()!"#6-8!"#$%!"# 50-80!"hCG β!"#$%!!"38000!"#! 30 [1, 54] hcg β-hcg!"! hcg!"#$%&'()*+,-./%01!!"#hcg!"#$%&'()*+, [4, 15]!"#$%&'()hCG!"#$%!&'()*+, β-hcg!"#$%&'β!6!"# $%&'(!"#$%!"#$%&'()*+!"!"#$%&'()*+ β- hcg!"#$%#&'()*+,-./012 [51, 52] 18!" #$%&'()β-hcg
!"# β-hcg!"#$%&'()*+,-./!"#$%!"#$%"&'()*+β-hcg!"#$%hafpue3!"#$%&'()*+,- [8,15]!"#$%& β-hcg!"#$%&'!"!" hcg!"#$%&'()*+,- [58] β-hcg PAPP-A!"# -ANT!"#$%&'(!"#$%&'()*"+$,-. hafphcg ( β-hcg)ue3! -A!"#$ [57] PAPP-A!"#$%-APAPP-A!"#$%&'()*+,-$./0123 PAPP-A!"#$%&'()pro-MBP!"#$!%&'()*!"#$%&'()*+,PAPP-Apro-MBP!"#!"#$ 17.4%!"#$!"#$%&'( 911!"# PAPP-A! pro-mbp!"#$%&'!"!" pro-mbp!" PAPP-A! 4-10! PAPP-A!"#$%&'(PAPP-A!!"#$%&'( [23, 39,40, 49]!"#$% PAPP-A 19
!"#$%&'! PAPP-A!"!"#$%&'()* PAPP-A!"#$%&'()*+,-.!"!"#$%&'( PAPP-A!"#$%&'()*+,-.!"#$%&'()* [6, 14, 41, 57]!"#$%&'()*PAPP-A!"#$%PAPP-A!"#$%!"#$!!" Edward's Patau's T21 T18 T13 AFP! 4! -25% -35-55% ue3 + / -30% -35-55% -30% β-hcg / 2-50% -50% PAPP-A / -50% -50% -50% -A / / 2 2!"#$%&'()*+,!"#!"#$%&'()*+,-./01234567892:!"#!"#$%&'(PAPP-A10 Mahalinobis 1.25! 111213!"#$ 1.040.730.52 [16]!"#$!"#$%&'!"#$%&'()*+,-./ 20
!"#!"#$%&!"#$%&NT!"#$%&'()*!"#$$%&11-13!"#$%&'()*+,-.NT!"#$%&!"#$%!"#$NT!"#$!"#!"#$%&'(FMF NT!"!"!"#$%&'()*+,-. 1)!"#$% 2)!"!"# 10 3) CRL/BPD 4)!" 11 13 6 5)!"#45-84 mm 6)!"#$%&' 7)!"# 75! 8)!"#$%&' 9)!"#$%&'(#)*+ 10) NT!" 0.1 mm 3!" 11)!"#$%&'( 12)!"#$%&'()NT 21
!!"#$%&'!"#$!"#$%&'()*+,-!!"#$%&'()*+,!"#!$!"#$%&'(!"#$%&'(!"#!"#$!"#$%&'()*!!"#$%&'() 10-13!"#$ 15-20!!!"#$%&'()*+!"#$%&'()*+,-./01!"#$%&'()*+,-!"#$%&'()*+,-./01234!"#$%&'()*+!!"#$%&'()*+,-./01234!"#$%&'!"#$%1/2001/300!"#$%&'()*+,-./0 1!"#$%&'()*+,- 1/200!"#$ OSCAR!"#$%&!"!"#$%&'()!"#$%&NT!"#β-hCGPAPP-A!"#11-14 21!"#$%!"#$%&'()*+,-.1!"#$%!!"#$%&'()*!"#$%&'()*+,-./01!"#$%&'!"#$%&'()*+,!"#$%&'()!"#$%&'()*+,-!"#$%& /!"#$!!"#$ 1-6!"!"#$%&'()*+,-./ 22
NT 12-13 NT! 10 NT β-hcgpapp-a! 14-20 AFPhCG ( β-hcg)! 14-20 AFPhCG ( β-hcg)ue3! 14-20 AFPhCG ( β-hcg)ue3inhibin A!"# 10 PAPP-A 14-20 AFP β-hcg ue3inhibin-a! 10 NTPAPP-A 14-20 AFP β-hcg ue3inhibin-a!"#$%&'()*+!"#$%&'()*+,!"-./0!"#$%&'()*+,!"#$%&!"!!"#$%&'()*+,-.!!"#$%&'()*+,-'()*.!"#$%&'()!"#$%&'()*!"#$%&'()*+,-./$%01(!"#$%&'()*+!"#$% [16]!"#$%&'()!"#$!"#$%&'()*+,-./01234!"#$NTD!"!"#!"#$%&'()*+,-./01234AFP!"!"#$%&!"#$%&'()(*+,-./01!"!"#$%&'()*+!" #$%&AFP!"#$!"#$%&'()* NTD!"#$%&'()*!"#!"# 100!"#$%&'()*+,-./01 23
!!"#$%&'()*+,-./0123456789!"#$%!"#$%&'()*+,-./01!"#$%&'()* a)!"#$%&' b)!"#$%&'()*+ c)!"#$%&' d)!"#$%&'()*+,-./0!12345!"#$%&!"#$%&'()*!"#$%&'()*+,!"#$%!"#$%&'()*+,%-./012345678%!"#$%&'()#*+,!"#$%&'"()"*+,-!"#$%"&'()!*+,!"#$%&'()*+,-./0!!"#$%&'() 24
!!"#$%&'(!"#!"#$%&'()*+,!"#!"#$%!"#$%&!"#$%&'()!!"#$%&'(!"#$%&'()*+,-!"#!"#$%&'!"#$%&'()*+,#-./0123456!"#$%&'()*+,#-!"#!"#$%&'()*+!"#$%&'( Medians!"!MoMs!"#$%&'()*+,+(MoM)!"!"#$%&'()!"#$%&'&($)*+,-./01!!"#$%&'()*!"#$!"#$%&'()!*!"#$!"#$%&'()*+,&-./0!"#$%&Means!"#$%&' 25
!"#$%9!"#$%&' 49!"!"# $%&'44!9!"#$%!"#$%$!"#"$%&'()*+,-./0123456789:;!"#!"#$%&!"#$%&'()*+,-./01234567!"#$%&'()*+,-.!"#$%&'()*+,!"#$%!"#$%&'()*+!"#$%&'()*+,-./0123!"#$%&'()*+,-./0123456!789!"#$%&'()!"#$%&'()*+,-./01234567!"#1987 Cuckle!"!"#$%& 45!"!"#$%&'!"#$%&'( 26
!"#$%&'()*+,!"#$%&'()*!"#$%&'()*+,!"#$%&'&()!"#$%&'()(*+,-./%01234567!"#$%&!"!"!!!"#$%&!"#!"!"#$%&'(!"#$%&'()*+!"#$%&'()*+,-!"#$!"#$%&!"#$%&'()*+,!"#!"#$%&'()*+,-./0!"#$%&'()*+,)*-!"#$!"#$%!"#$%&'(!"#$%&#'()*+!"#$%&'CVS!"#AC!"#$%&'(!"#!"#$%&!"#$%&'()*+,-!"#$%&'()*+,-./0123!"#$%&'()*+ Edwards' 18!!"21!Turner's!Patau's! 27
!"#$%&'()*+,-./0!"#$%&'() *+,-.!"# Cornelia de Lange!"!"#$%&'()!"#$%&'()*+!",-.! "#$!"#$%&'() *$+,-.!"#$%&!"#$%& NT!"#$%&!"#$!"#$%&'()*+,-./ a)!"#$!"#$%&'()*+,-./0! hcg! 25 b) c)!"#$%!"#$%&'()!"#$%&'( d)!"#$%&'( e) f)! g)!" AFP!!!"#"$%&!"#$%&'()*+#,-./01#234!"#$%&'( a)! /!"#$%IVF/GIFT!"# b)!"#$ c)!"#$%& d)!"#$%&'( 28
!"#$%&'(!"#$%&'()*+,-./012 a)!"#$%&'& MoM b)!"!"!"#!"#$%&'()*+ c)!!"# d)!!"# e)!!"#!"#$%&'()$%&*+,-./01! f) g)!"#$!"#!"#$%&'()*+,-.*/012 29
!"#$%&!"# $%&'()*+,-./0123%4567!"#$%&!"#$%&'()*#+,-./!"#$%&'()*+,-./!"#$%&'!"#$%&'()%*+,-.!"#$%&'() DNA!"#$%&'()*+,-./012!"#$%&'()*!"!"#$%&'()!"#$%&'()*+,-!!"#$%&'()*+,-.!"#$%&'()&*(+,-"!"#$%&DRFPR!"#$%&'()*+,-./!"!"#!" #$%&'()*+,-./012%3456789:;!!" 11-13!"NB!"#$%&'()*+,-. DVDV!"#$%&'()*!"#$%&'() 11-14!"#$%& [5, 38]!"#$%&'()*+,-./01!2345678!"#$%&!" #!"#!"#$"%!"#$!"#$%!"# ITAAdam-12 Pro-MBP!"#$%!" 30
ITA!"#$%&'(hCG!"#$%&'()!"# hcg!"#$ita!"#$%&'!"#$%&'()*+,-!" ITA!"#$%&'()*+, Adam-12!"#$%&'()*!"#$%&'()*+,!"!"#"$%&'()*+,-[29] 19!pro-MBP!"#$!%&'()* PAPP-A PAPP-A 4-10! pro-mbp!"#$%&'()*+,- 31
A Adam-12!"#$%&'()*+,-./0!"#$%&'()*!"#$!!"#$%&'()*+, AFP!"!"#$%&'()!"#$! AFP!"!"#$%&'(!"#$ Amniocentesis!"#$15!"#$%&'!!"#$%& Amniotic Fluid!"#$%&'()*+!"#$!"#$%&"'() Amyloid!"#!"#$%&$'()*!!"#$% Anencephaly!"!"#$%&'()*+!"#$%&'()*+,-!!"#$% Aneuploidy!"!"#$%&'!"!"#!"#$%&!'(! 21!"#$%! 21!"!"#$%& Antigen!"#$%&'()#*+,-!"#!"#$%& Assay!"#$%&$'()*!"#$%&''( ATP!"#!"#$%&'!!!"#$%& AWD!"!"#$%!"#$!"#$%&'()*!"#$ C Combined test!"!"# NT β-hcg PAPP-A!"#$%&'( Cytogenetics!"#!"#$%& Carrier!!"#$%&'()*#+!"!"#$%&'(!"!"#$ CVS!"!"#$%&'()*+,!"#$%&'()*+,- 32
D Detection Rate!!"#$%&'#()*+ Dual test!"!afphcg!β-hcg!"#$%&'( Down's Syndrome!"# 21!"#$%&'!"#$%!"#$%&!"#!"21!"#!"#$%&'()*+,!"!"#$%&'()!"# 40!"#$%&'(!"#$ 1 E Edwards' Syndrome!"#$ 18!"#$%!"#$%&'!"!"#IQ!"#$!" 95!"#$%&'() Encephalic!"#$ Estriol (or oestriol)!!"#$%!"#$%!"#$%%&'(!"#!"#$%&!"#$%&'(!"#$ F False-Positive Rate!"!"#$"%&'(#)* FISH!"#$!"#$%&'()*!"# FMF!"#$ G Gaussian Distribution!"!"#$%&'!"#!"#$%&'()*!"!"#$!"#$%&'()* Gestation!"#$%&'()*+,- H Haploid!!"#$%&'()*+,-.!"#$ hcg!"#$%&'!"#$%&'!!"#$%&'()*85!" 33
I Inhibin!!"#$%&'()*+",!"#$%&'()*+,!!"#$%&'FSH Integrated test!"!nt/papp-a!"#!afpue3hcg/ β-hcg! ITA!"#$%&'!"#$%&'!"# IVF!"!"#$%&'( K Karyotype!"#!"#$%&'!()*!"#$%&!"#$ Klinefelter's Syndrome!"#$%&!"#$ X XXY XXXY!"# XY!"#!"#$%&'()*!!"!"# M Marker!!"#$ hcg AFP!"#!"#$%&'() MoM! "!"#$%&'()*+!"#$%&'(!"#$%&!!"#$%&!"#$ MoM!"#$%&'() N NB!"#$%&'()*+,-.!"# NTD!"#!"#$%&'()*+!"#$%&' ()*+,-./ P PAPP-A!"#$%-A!"#$%&'!"#$%&'()*!"#$!" Patau's Syndrome!"#!"#$%&'(13!"#$%&! 13!"!"#$!"!"#!" Pre-eclampsia!"!"!"#$%!"#!"#$%&'()*+,!"# 20!!"#$% 34
ProMBP!"# $%&'()!"#$!"#$ Q QR-PCR PCR!"#$%&!"#!"#$%&'()* Quadruple test!"!"# AFPuE3hCG/ β-hcg!"#$%&'#()*+ S Screen Negative!"!"#$%&!"#!"#$%&'() Screen Positive!"!"#$%&!"#!"#$%&'( Spina Bifida!!"#$%&'()*+,!"#$%&'()*+,-!!"#$%&'() T Trimester!"#$!"#$%&' Triple Test!"!"# AFPuE3hCG/ β-hcg!"#$ %&'()*+ Triploidy!!"#$%&'()*(+,!"#$!"#$!%& Trisomy (13, 18, 21)!"!"#$%&'()*+,!"#$%46!"!! 47 21!"#$%&' 21!"!"#$ Turner's Syndrome!"#!" X!"#$%!!"#!"#$%&'!"#$ U ue3!"!"#$ 35
! 1. Albertini, A., Ghielmi, S. and Belloli, S. (1982): Structure, immunochemical properties and immunoassay of human chorionic gonadotropin. La Ricerca Clin. Lab. 12, 289-298. 2. Aussel, C. and Masseyeff, R. (1983): Human alpha-fetoprotein - fatty acid interaction. Biochem. Biophys. Res. Comm. 115, 38-45. 3. Bashore, R.A. and Westlake, J.R. (1977): Plasma unconjugated estriol values in high-risk pregnancy. Am. J. Obstet. Gynecol., 128, 371-380. 4. Bogart, M.H., Pandian, M.R. and Jones, O.W. (1987): Abnormal maternal serum chorionic gonadotropin levels in pregnancies with fetal chromosome abnormalities. Prenat. Diagn. 7, 623. 5. Borrell, A., Martinez, JM., Seres, A., Borobio, V., Cararach, V. and Fortuny, A. (2003): Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat Diagn 23, 921-926. 6. Brambati, B., Lanzani, A. and Tului, L. (1991): Ultrasound and biochemical assessment of first trimester pregnancy. In The embryo: normal and abnormal development and growth, eds. M. Chapman, G. Grudzinskas and T. Chard. Springer-Verlag, London, pp. 181-194. 7. Burger HG. 1992 Inhibin. Reprod Med Rev. 1:1-20. 8. Canick, J.A. et al. (1988): Low second trimester maternal serum unconjugated estriol in pregnancies with Down's syndrome. Br. J. Obstet. Gynecol., 95, 330-333. 9. Cleary, R.E. and Young, P.C.M. (1974): Serum unconjugated estriol in normal and abnormal pregnancy. Am. J. Obstet. Gynecol., 118, 18-24. 10. Crossley, J.A., Aitkin, D.A., Cameron, A.D., McBride, E. and Connor, J.M. (2002) Combined ultrasound and biochemical screening for Down's Syndrome in the first trimester: a Scottish multicentre study. BJOG: an International Journal of Obstetrics and Gynaecology, 109, 667-676. 11. Cuckle, H., Wald, N. and Lindenbaum, R. (1984): Maternal serum alpha-fetoprotein measurement: a screening test for Down's syndrome. Lancet 1, 926-929. 12. Cuckle, H., Wald, N. and Thompson, S. (1987): Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br. J. Obstet. Gynaecol. 94, 387-402. 13. Cuckle, H. (1992): Measuring unconjugated estriol in maternal serum to screen for foetal Down's syndrome. (Editorial) Clin. Chem., 38/9, 1687-1689. 14. Cuckle, H. (1994): Screening at 11-14 weeks of gestation: the role of established markers and PAPP-A. In Screening for Down's Syndrome, ed. Grudzinskas. Chard, Chapman & Cuckle, Cambridge University Press. 15. Cuckle, H. (1996): Established markers in second trimester maternal serum. Early Human Development, 47 Suppl., pp. 27-29. 16. Cuckle, H., and Arbuzova, S. (2004): Multimarker maternal serum screening for chromosomal abnormalities. In Genetic disorders and the fetus: diagnosis, prevention and treatment, 5th edition, ed. Aubrey Milunsky. John Hopkins University Press, USA, pp. 795-825. 36
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!"#$()!!"!"!"#$%&'() 67 4 021-50791330 021-50791316 201203!"!"#$%& 93!"#$ 8 6 608 010-5820 8166 010-5820 8155 100022!"!"#$%&' 42!"# 19 H 028-86782887 86782662 86783530 028-86782522 610017!"!"# 7!" B 2511 027-87322732 87128756 87322826 027-87322685 430071!"!"#$% 51!"#$% 13 G 024-22566158 024-22566153 110013!"!"#$% 33!" 2813 020-83633179 83633176 83633177 020-83633579 510060 PerkinElmer!"#$%&! ISO9001!"# PerkinElmer Life and Analytical Sciences 710 Bridgeport Avenue Shelton, CT 06484-4794 USA Phone: (800) 762-4060 or (+1) 203-925-4600 www.perkinelmer.com!"www.perkinelmer.com.cn!"www.perkinelmer.com!"#$800 820 5046