Chẩn đoán trước sinh hội chứng down

TCNCYH 69 (4) - 2010

CHAN DOAN TRL/ClC SINH HOI CHC/NG DOWN

Hoang Thj Ngoc Lan, Tran Thi Thanh HUOng

TrUdng Dai Hge Y Ha Ndi

Muc tieu: danh gia gia tri sang Igc b'ang sieu am va dinh lugng cac marker sinh hoc trong huyet thanh me

de chan doan trudc sinh hdi chdng Down. Doi taang va phaang phap nghien ciiu:: md ta 55 thai duac chan

doan NST la trisomy 21. Ket qua: ty le thai Down cd test sang loc d huyet thanh me nguy ca cao la 33/35.

44/55 thai Down cd hinh anh sieu am bat thudng: day da gay 29/55 thai, 4/55 thai cd bat thudng cau true

tim, 6/55 thai tSc ta trang, 2/55 thai cd nang dam rdi mach mac 2 ben, 5/55 thai lien quan den da di va mot

sd cac bat thudng khac. 11/55 thai cd ket qua sieu am thai binh thudng tai thdi diem chi dinh choc hiit dich

di thi deu cd ket qua sang Igc d huyet thanh me thudc nhdm nguy ca cao. Ket luan: sang Igc d huyet thanh

me da phat hien 33/35 thai Down. Sieu am thai phat hien 44/55 thai Down. Ket hap ca sang Igc d huyet

thanh me va sieu am thai da phat hien 55/55 thai Down.

Tijf khoa: chan doan trUdc sinh hoi chdng Down, sang loc 6 huyet thanh me, sieu am thai

I. DATVAN DE

Hpi chdng Down la bat thudng bam sinh hay

gap nhat trong cac benh rdi loan nhiim sac the

(NST) vdi ti n xua^t 1/700 tre sd'ng, xap xi bang

mot nda nhUng bat thudng ve NST d tre so sinh

sdng. Tre bj hpi chdng Down luon kem theo cham

phat trien trf tue, thddng cd chi sd thdng minh

< 50. NgUdi bj Down cd the sdng tdi 50 - 60 tudi.

Cac gia dinh cd con bj Down cd mpt ganh nang

ve tam ly cung nhu ganh nang tai chinh, ganh

nang cho sU phuc vu va sU cham sdc y te cua xa

hoi. Viee phat hien sdm cac thai Down la mpt

van de cap thiet cua tat ca cac nddc tren the gidi

cung nhu d Viet Nam. Hien nay ngUdi ta sd dung

mpt sd phuong phap sang loc trUde sinh nhU sieu

am thai, dinh luong mpt sd san pham eua thai cd

trong huyet thanh me nhU AFP, hCG,* uEs hoae

PAPP - A, fbhCG de phat hien thai cd nguy cd cae

eho hpi chdng nay va td dd tien hanh lam xet

nghiem xam pham thai nhd choc hut di, hoae

chpe hdt tua rau de lay ddpc te bao cd ngudn gdc

td thai gidp chan doan xae djnh thai hpi chdng

Down. Hang nam d nddc ta cd khoang 2000 tre

Down ra ddi. Vi vay viee chan doan trUdc sinh

thai Down la can thiet de giam ty le sinh con

Down, nang eao chat lUpng sinh san trong cdng

ddng. Chdng tdi tien hanh de tai vdi muc tieu:

Danh gia gia tri sang loc bang sieu am va

dinh lagng cac marker sinh hoc trong huyet

thanh me de chan doan trade sinh thai hoi

chdng Down.

II. DOI TJONG VA PHL/ONG PHAP

NGHIEN CL/U

Gom 55 thai Down ddpc xae dinh qua phan

tfch NST tdte bao di.

Phdong phap nghien cdu: mo ta.

- Cac thai phu dddc lam benh an di truyen,

sang Ipc bang sieu am thai va sang Ipc qua djnh

lupng mpt so' san pham td thai cd trong huyet

thanh me: (djnh Idpng bp 2 xet nghiem PAPP - A,

fb hCG (deuble test), hdae bp 3 xet nghiem AFP,

hCG, UE3 (triple test) d huyet thanh me d tren may

Immulite 2000.

- Chpc hut dich di dddc tien hanh tai cac trung

tam san khda. Nudi cay te.bae di, thu hoach te

bao, lam tieu ban NST, nhupm bang G, dpc tieu

ban NST va phan tich nhiem sac the tren may

xep NST tu dpng karyotyping cua hang Carlzeiss -

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