4 siêu âm định hướng di truyền

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INTENTIONAL HOA,

Sidy am dnh hung di tuyén

Bs VOTASON

Bénh vign Vinmec Times City

Hac sia uA.) THEO NATIONAL CONGRESS OF VIETNAMESE SOCIETY OF ULTRASOUND IN MEDICINE om owt a

‘Th pt Hu gly 08-09 thn nm 004] Hue Cy, March 08-09, 204 1 [hi ‘ " “6g

MQ DAU

+ Sigua tai cd thé ht ign nbn bt tng vecau tc

tỉaitliltua án) tài tử đ, tỳnhữn ha tng nf

don dc dn cd oan da co quan ihm tong.

' ữn tắt hội tà) tee got mot bénh ly diten tem an
NANG vige dua a thản dodn dc cnh ch KK
thÈu bệnh (tú bật hận ai thi dồn chéo

Chan do di tun ob them 6 én uong cho thi

ti cung cap tg tin cho vig vara quyet din cla

¿II va quan Ij am sdng trong talk, chu sinh

VAlen ke ogch cho ta kj sau

MQ DAU

+ Genetic sono=gSidurdam mdinh hung chan dodn tuy

+ Ban déu voc dng cho hd ching Down nhdm lam git

nphigm xam thủy cn hit (FPR Sh DR 69)

+ Marg co cd bénh Khe cd ph Kiéu hin tương tối ng nhất

Nha dich chinh vc em chip, eam th gan ch de

‘HENAaN GTC SONORA COMPONETS AND ROKE TE EA OF REXATAL SAENG. taaad Mauna Maw Reon ROA 84} 2423.

NOIDUNG

+ Camcite db bat thuittrguyén hay gap trong cin dodn red sinh
+ Quy tinh chan datr nsinh

+Tigo cénsigu am di truyen cho cd eh bi hay gap

+Tié cn siéu dmdi truytéhneo nh cdc hé co quan

* Nao

"Tim

+ HE wong

Cac ited bat thing di tryen Hoi chéng Down

"QF PCR loa tr’ nhanh cdc ch boi NST hay gap (30%) 1/700

* Karty or mira phat hnbt hob co Hoi ching DiGeorge

nhiem sac thé va dui NST (vit doan, ip doa) (10) Zot.205
IIIMU
40% céctrutmg hop cb dug chan dodn vbi CF PCR+
Hoi ching Noonan
CMA (+/- karyotype)
> 60% Khdngr6 nguyén nf Giaitrinh thé exome PTPNLL, AFL SOSL.
1/1000
(WES) tim du chin dodn 631% cd trot hop ny

Quy trnh cn dodn tri sinh

Tien st

«Sigur hi tha ch tit

+Choc i/Sithnethgal nau

*Nham dich

"Quy trinh

*(F PCR CMA\+/- karyotype) 2 WES > WS

mm Hoi chitng Down
Timmach ASO, VSD, TOF ARS, dt trong in, hd van 3, dnlh mang tim RAA

He vong Xuon Aine, uong coh ay gi tuft hn ong du ng de
chthctdu dng, nonghdmén adn, cnodaty ban ay gn, sandaglp

Mat Daya tude tn tbs ong, mt det, ming nh nirstoma),

He bach hyét mg unvml rth a gola ht

NT dy ph cc trtng

TituhTotd~gu Teothy ul, ict tgteanh cle oan ut kh, fn bthto,d

Nio rb ut ing im
Du ng rachycehay in oth, pin nh sau, nS bthutng
lút
thecal

Bat san host thdur dgl ng inh mchting PIU, da 6

‘tama, dab hc Apc a tol ical nd arma th pp ar KW 2)

Hộidhứny I0 ở tu 1

NT day

+ Thigu/bt sn ntong mi

+ lửtm3li

CVS voi QF PCR va karyotype

Sih chuyén doan

Hi chitng Edwards

Tim mach UCU ICID
He wong
\S0, TOF DORV,AVSD,bénh yj a van, ARSA
Nao
Chu inhud duty tinh tam i) hd tng bu hd chm
Mat tu tuft in wong nl an tt túi, lít th,

Tiku hod Tt nigu ban chan rocker bottom

lụt Nang dm mang ch oan tn th chal gn dn sa, ln CSP

Cm iy da tude ty, san von ii

Thodtv rin nh hod hod te thy qu, thin ng ng, logn

san thn twen de nh
GR, SUA NT dy, it sn/bdt thug đuờn Gg tinh meh nh

shauh a i

‘Ard dnt ah Qc Apc pa tv ehcp norman ermal bt pret ir Wie, 2)

Hoi chitng Edwardqusy

== (VS vol QF PCR va karyotype

Sih chuyen doan

Hoi chitng Patau

Timmach RUMI Pe

Mit CoA, HLS, VSD, EF ARSA, nh tim nhanh

He avong Bin dang mat ning ché mt, tin mi 2 mat gin mh, math

lũ whol, mot mat

Tuhod=Titriéy Dangon

lúc Holoposencephay gn bé dn hd sau, log sin th chal ln (SP

Thénténg thot vb nhd

HGR, SUA, NT dy bt sin/bat thud Gud Gg tinh mac, banh

nhau ny, 4

‘Ard dnt ah Qc Apc pa tv ehcp norman ermal bt pret ir Wie, 2)

Hoi ching Patau trong quy1

hw

* Holoprosencephaly

+ Jắ thường mút tin

Da ngdn
T0P

aN OF PCR + Karyotype

20% chuyéndoan

Hội th Turner

LOM EMCU OL LSU ES

Timmach CoA, HLA, ntsng ton ti, nip tim nhanh

duamat Nanbagch hut ving ct NT dy vb vch dy da tue mi

lh Thnmdhninggedntrgong kyung,chu

Khéc —_Phirmuchin qu) 2» 3,bétsén hog bt thang crn 6 Gng

tn mach, Re, gin ce von

‘tama, dab hc Apc a tol ical nd arma th pp ar KW 2)

Hội th Turner trong quy1

\

* NT diy, nang bach huyét ving cd

* Chen ch tim pha tra

* Co-quan sinh dye dang nit
CVS vOiQF-PCR+ karyotype

Chg Ging cha thay bt thug

sieudm hinh tha quy1

(Kham ban nau 60%)

Thé tam boi triploid

2 dang

Digynic-ngudn gc ti me
+ Chaim tng tretng som, bit cn ang du thn

* Banh nhau mong

* Giam manh free beta HCG va PAPPA

Diandic=ngudn dc ti’bd

* Banh nhau dang nang

* Tang trudng bin thu‘ong
* Ting fre beta hCG, gdm nhe APPA

Hoi chitngT?o hop? Hoctt dau?

¿. 0000

CHATGPT ay)i

TT Í

lithittlận Sach bdo (it

TẾ) tận dhân táni truyén

cach don gian nat

+Co bat throng:0?
+ Chg i Sin thi gai thu

+ Xétnghiém di truyén: aryotype/CMA/WES

MFM

| want you to be excellent

fetal medicine specialists

a

NEDICINE (NE)

A

(“thiếp tận

Cate Kienthc wen bc

,MINIS

Tu duy logic

10 Pace Clin apa snp

cuanto of th tl cna rvs es Pat
performanceof treed nerosongraphy

ru LÍ

HH 00/000) /

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