01 hợp nhất cfts nipt (tiếng việt)

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UNIVERSITY

HOP NHAT SANG LOC

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Professor ofObstetrics and
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NIPT

1985 1995 2005 1 105

FSH qỨŒ W

ils Heath Ẳœ ESTENSYDAEY

NSW piste Ingham stitute UNIVERSITY

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Cor sd: Sang loc két hop trong ba thang đầu

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tl
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South Westen Sydney on 0

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Chigu di dau mg (min)
Chitu di iu mdng (mm)

W Health ww WESTERN SYDNEY

South Westem Sychey Inghham Institute aH

NSW raat Osea

Doi mot vé gn:

Phan ap DNA ty do cua thai nh

ny Phan tach DNA ty’ huyét tudng

II Sidung kj thut Multiplex PCR dé kuch di SNPs cin quan tam

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Streck tv WESTERN SYDNEY

| han s`tate “

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owe | Local Health Distt

NIPT voi cdc thé tam boi ph hiến:

Độ nhạy tan hơn tùng tới độ độc hiệu

duoc cai hiện

Trisomy 21 | 99.7% (C1:99.1-99.9) 0.04%

Trisomy 18 98.2%6(Cl:95.5-99.2) 005%

Trisomy 13 99.0% (Cl: 658-999) 0.04%

ASK 95.8% (Cl: 703-995) 0.14%

Giletol. Meta-analysUiOsG 2017

tt, Í, » | Wess
gta ste
als col ĐỀ
NSW clan

Ty lé chi phi higu qua gia tang:

NIPT cho tat cd

CATS21 EAVOSIDED

Total Cost Case2s1 ICER//T21

avoided avoided

Routine care 150000000 1800 83,333

4JÚM ÿWM ⁄] ĐUM #ÚM NPT cost $50,000,000 MU 750M

Difference
d0 costs 400,000,000 MỤ 167

34

sen)Ì-— ty WESTER YOY
UNIVERSITY

NIPT voi T24:

cHONA™ bao gdm “khOng cd két qua”

/ 190(L.2%) owe \ 10% (3)
83 (05H) nf th
19134)4Mitiatt 1%

488 (3.0%) not reported tt 1%

13((in3, 274|(|hội Norton et a/. NEJM 2015

Including: 3721 0W

1718/2113

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a 41aw

fr CDNA reporte d

all cases Oh Detection rate FPR PPV

sen Ẳœ II SYONEY
UNIVERSITY
South Western Sydney Ithanh

NSW | cals Wenhstut

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in

Mat

“MU

Compurivon Chromovom2e1 (IIA0/000W0

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fragments
Muscial.e2t011

ils Health & =
Ingham nstute Porrecoet al A10G 2014
NSW South Westen Sydey
— WESTERN SYDNEY
Local Health District
UNIVERSITY
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Nếu mử rộng phạm visàng lọc tì

chingta nén sdng loc những gì?

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yi dey = 11n5,000

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ye dụ — 1a

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UNIVERSITY

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thông l tan động mach phú HN

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Bat thutng cbt song UN yt
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Besseau-Ayasse et ol, OPND 2014
Thieu séntuyén Ứt
, UNIVERSITY
IUGR
Ingham instute Ị
Đíi

senSouth Western Sydney

NœwSwøWr | LOCA Health District

Panorama Al dug cing thận pháthiện lầu hốt áctốt - vu „

doan 2211.2, bao gdm cdc mat doan nho hon

2211.2 region of chromosome 22 (not to scale) Incidence of small deletions in SMART

Full AD dln 25) | Focofumsost much higthahn eexpercted

— | NPT te “4 \4%

— Panorama Al Smal,

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lu Mb) _— (a)

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ful

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Mật tất tỉa Partarma với 220112

+ Tlémat dogn 22qt1.218 1/1524

(12/18,290)

+ DOnhay trong cdc trutng hop

TA MU mat doanbgtA-oD[ad999n.9%
(in)

90,95 + 83% trong toan bo nhom nghién

cltubao gbm cd mt dogn ng

nhau (nested deletio(1n0s/1)2)

(ee Parra (ocr version) Panorama A

(ed nr pet ato Pa cht nn ec eck of Me i ro 0 AD Ral
tha 50
Wratera

V nga kim sang cla RATS dt xdc din boi CVS

Hw het RATS thé Kham tù qiúihụn ở bánh nhưu

0M Hav het RATS dugc xd dinh trong don
biol nu CVS) gt han bh
wu 1 Prevalence of FM involving cytotrophobast
I Prevalence ofCPM involving cytotrophoblat nhu(M|!

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un ThE khdn thal nhithye sy (TEM) xdy a
0100 mot 8 nhd cdc tring hop va cb kt
0,080 ttiấtthút nhau?

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thường thái tiết đứng thai ky!
ono

tim | | | Chua thet ip durcméi én quan cla
aw CPM voi cc thé tam boi khvda cch
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+22 —
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4366 mm

Rao autosomal trisomios

unit pc pS) 3 Med Gn Wr Ma a Pd ao 80, $i tal Pt

Slide from Max Schmid

cFTS trong song thai

Spencer: nghien ctu hoi clu (one-stop clinic) (n= 224 cdp song tha
DRT2 75% (34

FPR 99 thai phy (19/206) | 6.9% cua tung thai nh réng bet (28/412)

Madsen: 4843 song thai binh thuting| 47 song thal -T21

Thém cdc pdt trung bin sinh hod dg hu chủ màng đệm tà số

doNT

DRT21 DC twins from 78% > 90% V FPR from 8.0~5.9%

Cleary-Goldman: Gia tri bO sung cla xvcng mb voi cTS n= 2094 cd song tal

twins DRT21 4 from 79:>89% at 5H SPR
16 chinh vac ca hon div song hai ai bénh nhau| OR W and FPR in MK

Spencer BOG 2003; Madsen U0G 2011; Cleary-Goldman AIOG 2008

NSW cada ae Ị

cFTS trong song thalVa:n đề tân quatnâm

Chac chan slung bénh nhau?

0 mo da pay:

MC; ting NT? TTTS hoge bat thug tim

Ong tinh mach;

fad neg sóng Đ? TTTS huật bất thường tin

kêu ww naham Inetitute WESTER STONE
me
NSW South Western Sydney a

cower | Local Heath Distt

NIPT trong song thai

T[lỆphíthiện a

Trisom2y1 2582-98 412

IiwmllÐ 889⁄(04-972) 401%

Trisomy 13 (6754722?) 02%

Gi et a Meta-analysis (twins) UOG 2019

als _| < WESTER STONEY
UNIVERSITY
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