XT NGHIM DI TRUYN Y HC - BENHVATHUOC.

COM

A- Xt nghim sng lc trc sinh

Xt nghim Double Test
Xt nghim sng lc trc sinh ty theo tui thai m c thc hin mt trong hai loi sau:
- Xt nghim Double Test sng lc trc sinh sm qu 1 thai k
- Xt nghim Triple Test sng lc trc sinh qu 2 thai k
Triple test - Xt nghim tm sot trc sinh
Xt nghim tm sot trc sinh Triple test l g?
Xt nghim tm sot trc sinh Triple test (tri-p tt) cn gi l xt nghim b ba l loi xt nghim tm sot
s dng mu m tm hiu nguy c mt s ri lon bm sinh thai. C ba cht c s dng trong xt
nghim ny l AFP, hCG v Estriol. Trong AFP (alpha-fetoprotein) l loi protein do thai sn xut, hCG
(human chorionic gonadotropin) l loi ni tit do nhau sn xut trong qu trnh mang thai v Estriol l loi
ni tit estrogen c c nhau v thai sn xut. y l loi xt nghim khng xm ln v hon ton khng gy
nh hng n m v thai.
Quy trnh xt nghim bao gm thu thp thng tin v thai ph v thai, ly mu thai ph v gi mu n phng
xt nghim. Kt qu thng c sau 3 5 ngy lm vic.
Khi no th c th thc hin xt nghim ny?
Triple test c th thc hin khi thai 15 20 tun. Tuy nhin, kt qu chnh xc nht khi thai 16 18 tun. Tt
c ph n mang thai u nn c thc hin xt nghim ny. c bit nhng thai ph sau y rt cn c
xt nghim:

Tin s gia nh c d tt bm sinh

Trn 35 tui
C s dng thuc hoc cc cht c th gy hi cho thai
Bnh tiu ng v c s dng insulin
B nhim virus trong thi k mang thai
C tip xc vi phng x liu lng cao

XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

ngha ca xt nghim Triple test nh th no?

Xt nghim Triple test khng th chn on tnh trng thai m ch cho bit thai hin ti c nguy c b ri lon
di truyn nhim sc th nh th no v c cn phi lm thm xt nghim khc na khng.
Nng AFP tng gi thai c tng nguy c b d tt ng thn kinh nh ct sng ch i v v s. Cn phi
xc nh chnh xc tui thai, bi v a s cc trng hp AFP tng l do xc nh tui thai sai. Nng AFP
gim nu kt hp vi nng hCG v estriol gim th thai c tng nguy c b Hi chng Down (Trisomy 21
hay tam th 21), Hi chng Edwards (Trisomy 18 hay tam th 18) hoc bt thng nhim sc th khc.
Tuy nhin, c tnh chnh xc mc nguy c phi kt hp kt qu xt nghim ba cht trn vi nhiu yu
t khc nh tui ca ngi m, chng tc, cn nng, chiu cao, tin s bn thn ngi m nh tiu ng, ht
thuc, tnh trng thai nh n thai hay song thai, tui thai vo thi im xt nghim, v tin s sn khoa.

Kt qu Triple test cho thy thai c nguy c b Trisomy 21 (Hi chng Down)
l 1/28 tng cao hn nhiu so vi nguy c tnh theo tui m l 1/204.

Trong trng hp kt qu cho thy thai hin ti c nguy c cao b mt hoc nhiu cc ri lon trn th cn
c thc hin chn on xc nh bng th thut xm ln nh chc i hoc sinh thit gai nhau.
Cc cp v chng nn c t vn v tho lun k v ngha v nhng tai bin c th sy ra do th thut
trc khi quyt nh chp nhn thc hin chn on.
Vic chn on sm trc sinh gip xc nh chnh xc tnh trng bt thng ca thai v gip cho cc cp v
chng c thng tin a ra cc quyt nh ph hp nh chun b cho cc bin php iu tr (nh phu thut
ct sng ch i), ln k hoch cc ch chm sc c bit cho b sau sinh, chun b tm l v cc vn c
th nh hng n cuc sng gia nh hoc quyt nh vn tip tc mang thai cho n khi ngy.

B- Xt nghim sng lc s sinh

Xt nghim sng lc s sinh l chng trnh thc hin thng qui cho tt c cc tr s sinh nhm pht hin
sm cc bnh ni tit v ri lon chuyn ha.
Cc ri lon bm sinh c xt nghim sng lc s sinh ti bnh vin T D hin nay l:
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Thiu men GPD.

Suy gip bm sinh.

Tng sinh tuyn thng thn bm sinh.

Vic pht hin, chn on v iu tr bnh sm gip tr pht trin kho mnh bnh thng nh bao tr khc.
Ngc li, nu khng c pht hin v iu tr sm kp thi th sc kho, s pht trin th cht v tm thn
ca tr b nh hng nghim trng v khng th phc hi c.
i tng xt nghim l tt c cc tr s sinh ti bnh vin T D hoc ni khc, 36 gi tui n 7 ngy tui.
Tuy nhin, thi im ly mu cn ty thuc vo tr c sinh thng hay khng.
Thc hin xt nghim sng lc s sinh sau khi sinh
Sng lc s sinh (SLSS) l g?
SLSS l chng trnh thc hin xt nghim thng qui
cho tt c cc b s sinh nhm pht hin sm cc bnh
l ni tit v ri lon chuyn ha nh hng n sc
kho, pht trin th cht tm thn ca tr.
Cc bnh l ny thng kh pht hin trn lm sng
khi tr mi sinh, do cn phi thc hin xt nghim
sng lc pht hin.

nh ch mang tnh cht minh ho.

Mt vi bnh l cn phi pht hin sm v iu tr

ngay trong vng 2 tun u sau sinh, b mi phc hi
v pht trin bnh thng.

Mc ch ca chng trnh sng lc s sinh

Pht hin, chn on v iu tr sm bnh l c sng lc gip con bn pht trin kho mnh bnh thng,
nng cao cht lng dn s Vit Nam.
Thc hin xt nghim sng lc s sinh cho b nh th no?
B s sinh 48 gi tui sinh BV T D s c ly 2 git mu gt chn nh ln giy thm mu kh
thc hin xt nghim.

XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Nu con bn sinh ti cc c s y t khng c thc hin xt nghim sng lc, tt nht nn nh nhn vin y t
ly mu v gi n phng xt nghim sng lc s sinh BV T D.
Thi gian tt nht ly mu lm xt nghim SLSS cho b l t 2-7 ngy tui. Kt qu xt nghim s c
trong vng 24-72 gi sau.
Nu kt qu sng lc cho bit con bn mc bnh, chng ti s lin h mi bn ln nghe tham vn bit r v
bnh l v hng dn cc bc tip theo chn on, iu tr hoc phng nga.
Cc bnh l s sinh c sng lc Vit Nam hin nay?
Cho n thi im u nm 2007, Vit Nam ni chung v bnh vin T D TPHCM ni ring thc hin xt
nghim sng lc cho 3 bnh l c t l cao cc nc Chu :
1. Thiu men GPD.
2. Suy gip bm sinh.
3. Tng sinh tuyn thng thn bm sinh.
Thiu men GPD l mt bnh m c th con bn khng tng hp c men G6PD nh nhng tr bnh
thng. Men G6PD nm trong t bo hng cu. Khi thiu men, t bo khng bin i cc sn phm c hi
thnh sn phm khng hi, do cc sn phm c hi s tch t trong hng cu lm cho hng cu d v. Vic
pht hin bnh sm v tham vn trnh s dng thuc, theo di vng da s sinh s gip tr b thiu men G6PD
b tn huyt cp a n thiu mu, vng da.
Suy gip bm sinh l mt bnh l tuyn gip ca tr khng t sn xut hoc sn xut hormon gip t hn
bnh thng. Hormon gip l cht cn thit cho no b v c th pht trin t lc mi sinh cho n lc trng
thnh. Nu hormon gip b thiu, no v c th khng pht trin a n tr ngu n v ln khng ln ln
c. Vic pht hin bnh sm v iu tr b sung lng hormon gip trong vng 2 tun u sau sinh s
gip tr pht trin bnh thng.
Tng sinh tuyn thng thn bm sinh l mt bnh l ri lon tng hp ni tit tuyn thng thn tr s
sinh a n biu hin cc th bnh khc nhau: mt mui gy t vong v m h v gii tnh b gi. Vic
pht hin bnh sm gip iu tr b kp thi trnh t vong, gim thiu tnh trng nam ho c quan sinh dc
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

ngoi gy nhm ln gii tnh tr gi. Tr gi c iu tr sm s t b nh hng tm l v gim kh nng
phi to hnh c quan sinh dc ngoi khi ln ln.
Tr c xt nghim sng lc

Tr khng c xt nghim sng lc

Cc b c sng lc pht hin v iu tr sm suy gip

bm sinhn nay pht trin bnh thng

B khng c thc hin xt nghim sng lc s sinh

do pht hin suy gip bm sinh mun.
Chm pht trin tm thn vn ng

N 19 tui b bnh tng sinh thng thn bm sinh.

C th v b phn sinh dc ngoi b nam ho.

Xt nghim sng lc s sinh c thc hin th no?

Cc b sinh ra 36 gi tui mi c ly mu lm xt nghim sng lc s sinh.
Thi gian ph hp l t 36 gi tui n 7 ngy tui. Tuy nhin, thi im ly mu cn ty thuc vo con bn
sinh thng. Nhn vin y t s cho bn nhng li khuyn ph hp.
Quy trnh xt nghim s tri qua cc bc nh sau:
1. Gii thch v li ch ca vic ly mu b lm xt nghim.
2. Hi thng tin lin quan cn thit in vo t xt nghim: tn m, gii tnh b, cn nng, ngy sinh, tin
s bnh ca m, ngy ly mu
3. B s c nm chn thp hn mnh ly mu gt chn. Mi b ch cn ly 2 git mu nh ln 2 vng
trn giy thm kh l lm xt nghim.
4. Mu mu s c kh t nhin v gi n phng xt nghim.
5. Nhn vin y t s thc hin xt nghim pht hin t nht 2 bnh: thiu men G6PD v suy gip bm sinh.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

6. Kt qu xt nghim s c trong vng 24-48 gi. Cc trng hp b s sinh c kt qu nghi ng b bnh s

c thng bo cho gia nh bit hng x tr tip theo.

C- Xt nghim chn on trc sinh (PND)

Xt nghim Karyotye Lp b nhim sc th
Xt nghim karyotype hay Lp b nhim sc th l xt nghim kho st b nhim sc th trong 1 t bo. Xt
nghim c thc hin bng cch nui cy t bo trong mi trng c bit. Sau thi gian thch hp t bo
c thu hoch v c nhum c trng. K thut nhum hin nay l GTG (Giemsa trypsin G-banding).
Ngi bnh thng c 46 nhim sc th, chia thnh 22 cp thng v 1 cp gii tnh. Mi cp c kch thc,
hnh dng v cu trc c trng.
Sau khi nhum, s lng v cu trc ca cc cp nhim sc th c kho st bng knh hin vi phng
i 1000 ln v c phn tch, xp thnh b hon chnh bng phn mm chuyn dng.
Loi mu c th s dng cho k thut ny gm: mu, dch i, gai nhau, dy rn, mu dy rn.
Karyotype c ch nh xt nghim cho tt c cc i tng nghi ng b ri lon di truyn, d tt bm sinh,
chm pht trin tm thn, v sinh him mun, sy thai lin tip
Kt qu nhim sc th (karyotype) nh sau:

Hi chng Down
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Hi chng Down (HC Down) do bc s Langdon Down ln u tin m t tnh trng bnh nm 1887. n
nm 1957 nguyn nhn bnh c pht hin l do tha mt nhim sc th s 21 trong b gen cn gi l tam
th 21 hoc trisomy 21 (tri-x-mi 21). Bnh gy ra tnh trng chm pht trin th cht v tm thn v c tn
sut khong 1:700 tr s sinh. Cc triu chng ca HC Down c th rt khc nhau gia cc tr mc bnh. C
tr cn phi c iu tr v chm sc rt nhiu nhng c tr cn t s chm sc hn.
Hi chng Down khng th iu tr khi tuy nhin c th chn on sm trong thi k mang thai trc khi tr
c sinh ra.
C ch gy HC Down
Bnh thng thai c tha hng vt cht di truyn gm 46 nhim sc th, trong c 23 nhim sc th t
m v 23 nhim sc th t cha. Tuy nhin hu ht cc trng hp HC Down, thai c 47 nhim sc th do c
tha mt nhim sc th s 21. Chnh s d tha vt cht di truyn ny gy nn cc ri lon v th cht v tr
khn ca tr.

B nhim sc th ca ngi n b Trisomy 21 (Hi chng Down)

Nguyn nhn chnh xc gy ra tnh trng ri lon ny vn cha c xc nh c th tng ngi. Tuy nhin,
thng k thy rng ph n t 35 tui tr ln c nguy c sinh con b HC Down tng ln r rt. tui 30 nguy
c sinh con HC Down khong 1:1000. C ngha l 1000 ph n 30 tui sinh con th ch c 1 ngi sinh con b
HC Down. Tuy nhin nguy c ny tng ln 1:400 ph n 35 tui v 1:60 ph n 42 tui.
Cc ri lon tr b HC Down
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Cc tr b HC Down thng c chung mt s c im v th cht nh mt dt, mt xch, tai nh, rnh kh (l
rnh ngang lin tc lng bn tay) v li dy v di. c bit khi ln khun mt ca cc tr b bnh rt c
trng, d nhn bit v ging nhau gia cc tr nn dn gian cn gi l bnh mt ging.
Khi mi sinh tr b HC Down thng c trng lng v kch thc bnh thng. Nhng sau tr c khuynh
hng pht trin chm hn so vi tr bnh thng cng tui.
Trng lc c mm v khp lng lo cng l c im ca tr bnh HC Down. Mc d hu ht u ci thin
nhng nhn chung tr b HC Down s c qu trnh pht trin nh bit ngi, b v i chm hn so vi tr bnh
thng.
tr s sinh, tnh trng nhc c c th gy kh khn trong vic nui b, nui n, to bn v cc vn tiu
ha khc. tr ln c th b chm pht trin ngn ng, k nng t chm sc nh n ung, mc qun o v i
v sinh.
Tr thng minh v kh nng nhn bit ca tr b HC Down thng b chm pht trin t nh ti va. Tr c
th hc v pht trin cc k nng nhng thng rt chm v phi hc sut i. Ngoi ra kh nng ny thay i
rt khc nhau gia cc tr v khng th on trc c.
Tr b HC Down thng b km theo cc bt thng bm sinh khc trong d tt bm sinh tim l ph bin
nht nh thng lin tht, cn ng ng mch, t chng Fallot (pha-l). Ngoi ra cn c cc d tt khc v
thnh gic, th gic, ri lon tuyn gip, bt thng v tiu ha, ng kinh, cc vn v h hp, bo ph, d
b nhim trng v ung th bch huyt.
Chn on trc sinh
C hai loi xt nghim pht hin HC Down thai gm xt nghim tm sot v xt nghim chn on. Xt
nghim tm sot gip c lng c nguy c HC Down thai cn xt nghim chn on gip xc nh
chnh xc c hay khng HC Down thai.
Mc d xt nghim tm sot thng khng au v khng xm ln nhng n li khng th a ra cu tr li
chc chn liu thai c b HC Down hay khng. V th gi tr ch yu ca xt nghim tm sot l cung cp
thng tin gip cho cc cp v chng quyt nh c thc hin xt nghim chn on hay khng.
Cc xt nghim chn on c kh nng pht hin HC Down v mt s ri lon nhim sc th khc vi
chnh xc rt cao hn 99%. Tuy nhin do xt nghim i hi phi thc hin mt s th thut xm ln trong t
cung nh chc ht dch i hoc sinh thit gai nhau c lin quan n nguy c sy thai v cc tai bin khc
thai. V th xt nghim chn on thng ch p dng cho cc thai ph c nguy c cao sinh con b HC Down
qua xt nghim tm sot, ph n trn 35 tui hoc tin s gia nh c bt thng di truyn.
Chn on sau sinh
Sau khi sinh, tr b HC Down thng d nhn bit v c chn on bng cch lp b nhim sc th
(karyotype) ca t bo mu xc nh cu trc v s lng ca nhim sc th s 21 tr.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Hi chng Edwards
Hi chng Edwards (HC Edwards, c l t-qu-x) xy ra khi bnh nhn b tha mt nhim sc th s 18
trong b gen cn gi l tam th 18 hoc trisomy 18 (tri-x-mi 18). Trisomy 18 c bc s John H. Edwards
m t ln u vo 4/1960 trn tp ch y hc Lancet.
L trisomy ph bin hng th hai sau trisomy 21 gy HC Down vi t l khong 1:3000 n 1:8000 tr s
sinh, HC Edwards thng gy cht thai hoc t vong sm sau sinh. 80% tr b HC Edwards cht trong tun
u tin sau sinh. Mt s t c th sng hn mt thng. Khong 5 10% c th sng hn mt nm tui.
HC Edwards khng th iu tr khi tuy nhin c th chn on giai on sm ca thai k.
C ch gy HC Edwards
Bnh thng thai c tha hng vt cht di truyn gm 46 nhim sc th, trong c 23 nhim sc th t
m v 23 nhim sc th t cha. Tuy nhin 95% cc trng hp HC Edwards thai c 47 nhim sc th do c
tha mt nhim sc th s 18. Chnh s d tha vt cht di truyn ny gy nn cc d tt bm sinh tr.
Tnh trng khm c th xy ra khi mt s t bo trong c th bnh thng vi 46 nhim sc th trong khi
nhng t bo khc li c 47 chic. Nhng trng hp khm thng t nghim trng hn th thun nht. Mt
s trng hp khc ch c 46 chic nhim sc th nhng thc s c mt chic 18 d ra v kt ni vi mt
chic khc (gi l chuyn on ha nhp tm).
B gi c khuynh hng b nhiu hn b trai gp 3 ln. iu ny c th l do thai c gii tnh nam b trisomy
18 thng b sy sm.
Nguyn nhn chnh xc gy ra tnh trng ri lon ny vn cha c xc nh c th tng ngi. Mt s
nguyn nhn c th l do bt thng nhim sc th 18 cha hoc m, do s phn chia v ti t hp trong qu
trnh to trng hoc tinh trng b bt thng.
Nguy c sinh con b HC Edwards gia tng ph n mang thai ln tui hoc c tin s bn thn hoc gia nh
tng sinh con b HC Edwards.
Cc bt thng ca HC Edwards
Thai b trisomy 18 thng chm pht trin trong t cung v ngng pht trin khong thng th 7 ca thai
k.
Chc nng ca no tr b HC Edwards khng c pht trin hon thin. Mt s t bo thn kinh khng
pht trin ra ngoi no m li khu tr thnh cc nhm nh ri rc trong no. Do tr thng b ri lon cc
chc nng sinh tn c bn nh b, nut, th v thiu nng tr tu nghim trng.
S hnh thnh ca cc c quan trong c th cng b ri lon nghim trng. Thng c nhiu d tt bm sinh
c pht hin trong thai k hoc ngay sau sinh.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Thai a i do bt thng v kh nut v nt ca thai, thiu i do bt thng thn, bnh nhau nh,
mt ng mch rn duy nht, thai chm pht trin trong t cung, c ng thai yu hoc suy thai, sinh
nh cn.

Cc bt thng v u mt nh u nh hoc c dng hnh tri du, cm nh, tai ng thp, nang m
ri mng mch no.

Ct sng b ch i v thot v ty sng ra ngoi.

Xng c ngn, tim b thng lin tht, thng lin nh, cn ng ng mch hoc hp ng mch ch.

Bt thng bng v c quan ni tng nh thot v rn, h thnh bng, teo thc qun, thn a nang
hoc trng nc, thn hnh mng nga, tinh hon n.

Bn tay co qup, thiu sn mng tay, bn tay qup, lng bn chn dy.

Chn on trc sinh

C hai loi xt nghim pht hin HC Edwards thai gm xt nghim tm sot v xt nghim chn on.
Phng php tm sot trc sinh thng c s dng l xt nghim triple test. Xt nghim tm sot gip
c lng c nguy c HC Edwards ca thai cn xt nghim chn on gip xc nh chnh xc c hay
khng HC Edwards thai.
Mc d xt nghim tm sot thng khng au v khng xm ln nhng n li khng th a ra cu tr li
chc chn liu thai c b HC Edwards hay khng. V th gi tr ch yu ca xt nghim tm sot l cung cp
thng tin gip cho cc cp v chng quyt nh c thc hin xt nghim chn on hay khng.
Cc xt nghim chn on c kh nng pht hin HC Edwards v mt s ri lon nhim sc th khc vi
chnh xc rt cao hn 99%. Tuy nhin do xt nghim i hi phi thc hin mt s th thut xm ln trong t
cung nh chc ht dch i hoc sinh thit gai nhau c lin quan n nguy c sy thai v cc tai bin khc
thai. V th xt nghim chn on thng ch p dng cho cc thai ph c nguy c cao sinh con b HC
Edwards qua xt nghim tm sot, thai c d tt bm sinh pht hin trn siu m, ph n trn 35 tui hoc tin
s gia nh c bt thng di truyn.
Cc xt nghim chn on hin nay c p dng ti Bnh vin T D l phn tch b nhim sc th hay cn
gi l karyotype v k thut lai ti ch pht hunh quang (FISH).
Chn on sau sinh
Ngay sau khi sinh tr b HC Edwards c th c chn on ngay bng cc bt thng biu hin ra bn ngoi
v c khng nh bng cch lp b nhim sc th ca t bo mu xc nh cu trc v s lng ca
nhim sc th s 18 tr.
Hi chng Turner
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Hi chng Turner (HC Turner) c bc s Henry Turner m t chi tit ln u tin vo nm 1938. Nguyn
nhn bnh c pht hin l do mt mt phn hoc ton b mt nhim sc th (NST) gii tnh X trong b gen
ngi. y l ri lon NST gii tnh thng gp nht n, gy ri lon pht trin th cht v tm thn. Hn
90% cc trng hp thai HC Turner sy t nhin. Tuy nhin vn c khong 1/4000 b gi mi sinh b mc
HC ny.
HC Turner khng th iu tr khi, tuy nhin c th chn on sm trong thi k mang thai trc khi tr c
sinh ra.

B NST ca HC Turner
Ngi n b HC Turner do mt hon ton mt NST X v b NST ch cn
duy nht mt NST gii tnh X l nguyn nhn thng gp nht chim
khong 50%. Trng hp ny cn c gi l monosomy X v k hiu l
45,X hoc 45,X0.

Ngi bnh thng c 46

NST v c k hiu l:
- Nam: 46,XY
- N: 46,XX

Khong 1/3 cc trng hp n b HC Turner c 2 nhim sc th X, nhng mt chic trong s ny li b

mt i mt on.
Cng c nhiu trng hp n b HC Turner c b NST th khm. Trong c th ca h c 2 dng t bo tn ti
song song vi nhau, mt dng t bo bnh thng 46,XX v mt dng t bo bt thng 45,X. May mn l
nhng trng hp khm thng gy ri lon nh hn HC Turner tht s.
i khi cng c trng hp HC Turner khm vi s tn ti ca dng t bo cha mt phn NST Y quy nh
gii tnh nam. Tuy nhin, phn NST Y khng nhiu nn khng to ra kiu hnh gii tnh nam cho bnh nhn.
Nhng ph n trong trng hp ny c nguy c b khi u bung trng tng cao.
Gn y cc nh khoa hc xc nh c gen SHOX nm u tn cnh ngn ca NST X. Hu qu ch
yu ca mt mt gen SHOX l c th b ln.
Cc ri lon ngi b HC Turner
Ngi b HC Turner thng c cc c im nh vc dng nh, suy bung trng, np da dy gy, d tt bm
sinh tim, khim thnh nh v mt s c im khc.
Vc dng nh: y l c im ph bin nht do gen tng trng SHOX b mt i. Chm tng trng c th
xut hin t khi mi sinh, tr c th nh hn trung bnh mt cht v tr nn r rng hn khi c 3 tui v
ngy cng th hin r hn. Nu khng c iu tr hormone thay th, tr khng c tng trng nhy vt
tui dy th, m vn tip tc pht trin tc chm cho n khong 20 tui. Cc thiu n HC Turner thng
thp hn chiu cao trung bnh khong 20cm.
Nu c iu tr hormone thay th, nhiu tr gi s t c chiu cao tui trng thnh mc thp ca
gii hn bnh thng.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Suy bung trng sm: 90% ngi HC Turner b suy bung trng sm. Bung trng c chc nng sn xut
trng v hormone sinh dc pht trin cc c im n ca c th nh v, vc dng n, hnh kinh v h
xng. Ch khong 1/3 cc trng hp c du hiu pht trin v, nhng hu ht u khng hon tt vic dy
th. Rt him, cha n 1% trng hp c th c thai t nhin.
Cc c im khc c th rt thay i gia cc c th nh:
- Tc mc thp, l tai ng thp, mt sp, c to b v ngc rng.
- Hm di ngn. Vm hng cong, cao v hp.
- Bn chn dt, mng tay v chn nh hp.
- Ph tay v chn, c bit l khi mi sinh.
- Ch s thng minh trung bnh thp hn so vi nhng ngi bnh thng khc.
Cc nguy c lin quan vi HC Turner
C mt s vn v sc khe thng xy ra ngi HC Turner. Tuy nhin, cc vn ny c th iu tr v
chm sc hiu qu.
Tim: C th b hp ng mch ch, van ng mch ch 2 l (thay v 3 l nh bnh thng). Tng huyt p xy
ra 1/3 cc trng hp HC Turner.
Thn: 30% ngi HC Turner b bt thng thn. Nhiu bt thng khng gy ra bnh cnh lm sng nhng
li c th dn n nhim trng ng tiu v tng huyt p.
Tuyn gip: Thng xy ra thiu nng tuyn gip do min dch.
Tai: Vim tai gia c bit ph bin tr b HC Turner nh nhi v tr em. Phn ln bnh nhn HC Turner s
b gim thnh gic sm v cn phi c iu tr tr thnh.
iu tr HC Turner
iu tr HC Turner ty thuc vo tng i tng c th.
iu tr bng hc mn tng trng (hGH): l phng php nhm ci thin t l tng trng v chiu cao c
th. iu tr ny c p dng khi bnh nhn HC Turner b suy tng trng hoc mc tng trng di
bch phn v th 5 ca ng cong tng trng bnh thng ca n gii.
iu tr bng estrogen: Do suy bung trng sm, cc bnh nhn HC Turner cn c iu tr bng estrogen.
iu tr c th bt u t tui 12 14 nhng ph thuc vo tng i tng c th t tng trng v pht
trin dy th ti u. Estrogen gip cho tr dy th v pht trin tuyn v v cc chc nng sinh dc bnh
thng. Estrogen phi hp vi progesterone cn gip cho bnh nhn c kinh nguyt mi thng. Ngoi ra,
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

estrogen cn c vai tr duy tr mt xng bnh thng v th iu tr estrogen c th c duy tr n khi
mn kinh.
Chn on
HC Turner c chn on xc nh bng xt nghim NST hay cn gi l karyotype. Xt nghim ny c
th thc hin trc sinh trn t bo dch i hoc chn on sau sinh trn t bo mu ngoi vi.
HC Turner c th c pht hin bt k giai on no ca cuc i t khi cn l thai trong bng m cho n
khi trng thnh. Cc du hiu gi cn phi xt nghim karyotype gm:
- Giai on thai: nang nc vng c, pht hin tnh c khi chn on cc ri lon nhim sc th khc.
- Tr s sinh v tr nh: C to b tha da hoc ph bch huyt tay v chn, c bt thng tim, chm pht
trin hoc vc dng nh.
- Tr gi: chm dy th hoc v kinh.
- Ngi ln: v sinh hoc kinh nguyt khng u.
Sy thai lin tip
Sy thai l mt bin chng thng gp trong thai k, li ni au to ln v tinh thn, mt mt v th xc cho
thai ph cng nh tn km nng n v vt cht cho gia nh v x hi. Theo WHO, mi ngy c khong
150.000 trng hp sy thai, trong 75% c nguy c sy thai lp li.
Sy thai lin tip (STLT) l thai nhi b tng xut khi bung t cung trc tun l v kinh th 22, lin tip t
3 ln tr ln. C nhiu nguyn nhn gy STLT, trong nguyn nhn do bt thng di truyn rt kh can
thip v cng l mt trong nhng nguyn nhn chnh gy d tt bm sinh.
T l STLT chim t l 15-22% tng s thai k, nguy c thay i ty theo s ln sy thai, tng sinh con
cn sng v c con b d tt hay khng.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

C nhiu dng bt thng NST, trong :

- C nhng dng bt thng s di truyn 100% sang thai nhi
- C nhng dng vn sinh c con mang hnh dng bnh thng nhng mang bt thng NST ging b
m.
Theo y vn th gii cc v di truyn hc, nguyn nhn gy sy thai lin tip do bt thng NST di truyn t
th h b m chim t l trung bnh khong 4%. Tuy nhin nu cc cp v chng b sy thai lin tip trc
tng c con b d tt bm sinh th t l bt thng NST th h b m tng ln n 27%.

C nhiu dng bt thng NST, tuy nhin hin ti c chia thnh hai nhm chnh:
bt thng s lng
NST v bt thng cu trc NST.
- STLT do bt thng s lng NST: chim t l 1,5% tng s thai k, thng xy ra cc cp NST s 13,
16, 18, 21, 22 v cp NST gii tnh X, Y. Ngoi tr bt thng s lng NST xy ra cp NST s 21 c th
sng n trng thnh, cc dng bt thng s lng NST n thun, th n, th ba s cht t trong bo thai,
cn li 100% tn ti dng khm.
- STLT bt thng cu trc NST c 3 nhm chnh:
o Chuyn on tng h hay chuyn on cn bng (t l 63,7%): l hin tng trao i on gia hai
chic NST, mi NST t mt ch, trao i on t cho nhau, hnh thnh nn hai chic NST mi, khng mt
i cht liu di truyn. Cc c th mang bt thng chuyn on tng h c kiu hnh hon ton bnh thng,
b NST gm 46 chic NST, trong c 2 chic NST bt thng.
o Chuyn on ha nhp tm hay chuyn on khng cn bng (t l 19,8%): Ch xy ra i vi cc NST
tm u, hai NST tm u b t qua min gn tm, cc on t chuyn on cho nhau to nn mt NST bt
thng v mt NST rt nh b tiu bin i. Cc c th mang bt thng chuyn on ha nhp tm c kiu
hnh hon ton bnh thng, b NST ch c 45 chic NST, thiu 2 chic NST tm u, thay th bng 1 NST
tm gia ln.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

o o on (T l 8,6%): NST b t hai v tr, on t quay 180 sau hai ch t ni li theo trt t
mi, khng mt i cht liu di truyn v c th mang cu trc o on thng c kiu hnh bnh thng,
nguy c di truyn sang thai nhi t cc cp v chng ny l 9-10% . C 2 dng bt thng cu trc NST kiu
o on. Nu v tr o on ngoi tm, kh nng sinh con c kiu hnh bnh thng tng i cao. Tuy
nhin, nu v tr xy ra o on cng xa tm kh nng sinh con c hnh dng bnh thng thp hn, nguy c
d tt bm sinh cho thai nhi cao hn so vi o on ngoi tm, mt s dng khc t l 7,9%.
Nguy c di truyn sang thai nhi ca cc cp v chng mang bt thng cu trc NST thay i ty theo chic
NST mang bt thng, kiu bt thng.. c bit, nu bt thng cu trc NST xy ra trn cng mt cp
NST, th nguy c di truyn sang thai nhi l 100%, hu qu 100% STLT
Cu hi c t ra i vi cc cp v chng mang bt thng di truyn b STLT: c cn phi can
thip iu tr g c bit hay khng?
C nhiu kin ng thun i vi cc trng hp ny: Ch tin hnh sinh thit chn on tin phi (k thut
PGD) i vi nhng trng hp p dng k thut IVF nhm loi b nhng phi mang bt thng di truyn
gy sy thai hoc c nguy c gy d tt bm sinh cao, ng thi phi hp thm v chn on tin sn trong
qu trnh mang thai.
i vi nhng trng hp c thai t nhin, hu ht cc bo co u khuyn khch tin hnh cc xt nghim
chn on tin sn, chc i hoc sinh thit gai nhau cho tt c thai k c b hoc m mang bt thng NST.
Tuy nhin vic tin hnh chc i, sinh thit gai nhau i vi cc cp v chng mang bt thng NST b sy
thai nhiu ln l mt vn phi ht sc cn nhc, v s lm tng nguy c sy thai nhng cp v chng vn
c tin cn b sy thai.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

V sinh him mun

Di truyn ng vai tr quan trng trong chc nng sinh sn nam v n. Cc yu t di truyn tc ng ln tt
c cc giai on ca h thng sinh sn bao gm : hnh thnh gii tnh, qu trnh sinh giao t (trng v tinh
trng), cng nh nhng giai on u pht trin ca phi.
Cc bt thng di truyn c th chia thnh 3 nhm chnh : bt thng nhim sc th v s lng v cu trc,
t bin cc gen lin quan n chc nng sinh sn (nh cc gen nm trn nhim sc th gii tnh X/Y, hoc
cc gen nm trn nhim sc th thng), v bt thng n gen (nh gen ty th, gen iu ha tnh thm qua
mng x nang (CFTR),).

Karyotpe : 46,XY
Tc ng di truyn gy v sinh n
Cc nguyn nhn di truyn thng gp nht nhng trng hp v sinh n l bt thng v s lng v
cu trc nhim sc th, v hi chng t gy nhim sc th X (Hi chng Fragile X - FRAX). Tuy nhin tnh
trng v sinh n do nguyn nhn di truyn thng chim t l thp hn so vi nam. Trong cc trng hp
v kinh nguyn pht, nguyn nhn do hi chng Turner - 45,XO chim t l t 25 50% (xut hin 1/2500
3500 trong cc b gi mi sinh ra). Trong nhng trng hp v kinh th pht th bt thng nhim sc th
chim t l t 10 15%.
nhng gia nh c tin s sn khoa phc tp (nh sy thai lin tip, c bit giai on sm hay nhng
thng u ca thai k, cht ngay sau sinh, tr sinh ra vi nhiu d tt bm sinh) th nguyn nhn do bt thng
nhim sc th gy ra chim t l t 5 15%. Vi nhng bnh nhn ny c th ch nh phn tch karyotype
chn on.
C n 5% trng hp n b mn kinh sm do mang nhim sc th X b t gy. Hi chng ny l nguyn
nhn ph bin nht gy ra nhng tn hi bm sinh cho s pht trin tm thn v y l hi chng in hnh
cc b nam (t m truyn sang cho con trai). Vi nhng bnh nhn c triu chng mn kinh sm hoc v kinh
nguyn pht c th cho ch nh lm cc xt nghim di truyn phn t pht hin hi chng t gy nhim sc
th.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Tc ng di truyn gy v sinh nam
Cc trng hp v sinh nam do nguyn nhn di truyn chim t l 10 15% bao gm ri lon nhim sc th,
t bin DNA ty th, ri lon di truyn n gen, ri lon di truyn a yu t, v bt thng di truyn dn n
ri lon ni tit. S bt thng di truyn c pht hin nhng bnh nhn nam b thiu tinh
(oligozoospermia) v v tinh (azoospermia) thng l nhng bt thng v s lng v cu trc nhim sc
th.
Nhiu nghin cu cho thy rng, trong cc nguyn nhn di truyn gy v sinh nam th bt thng nhim sc
th chim khong 5 % (4% bt thng nhim sc th gii tnh v 1% bt thng nhim sc th thng).
Trong cc trng hp bt thng nhim sc th, hi chng Klinefelter l hi chng thng gp nht chim t
l khong 1/500 cc b trai mi sinh ra. 93% trng hp bnh nhn mang hi chng Klinefelter c b nhim
sc th l 47,XXY; bn cnh hi chng Klinefelter cng c cc dng karyotype khc nh: th khm
47,XXY/46,XY; 48,XXXY; 48,XXYY; v 49,XXXXY gy ra 11% azoospermia v 0.7% oligospermia.
Cc trng hp do chuyn on nhim sc th bao gm chuyn on 13/14 cn gi l chuyn on
Robertsonian (chim 60% trong cc bt thng c chuyn on v 1/500 tr sinh ra) v cc chuyn on trn
cc nhim sc th 1, 3, 5, 6 hay 10. Cc bt thng nhim sc th ny c th gy cn tr qu trnh gim phn,
lm gim kh nng to tinh trng v c th dn n v sinh. Nhng bnh nhn b chuyn on Robertsonian
th thng l b oligozoospermia, him gp azoospermia.
Nhng bt thng di truyn nh hng n kh nng to cc kch t sinh dc lm tng kh nng v sinh
nam c chia lm 3 nhm chnh: (1) Nhng ri lon lin quan n s ch tit v iu ha ca GnRH t vng
di i do t bin cc gen nm trn nhim sc th gii tnh X (Hi chng Kallman); (2) Nhng ri lon
nguyn pht ca s ch tit v iu ha ca hai hormon sinh dc LH v FSH t tuyn yn do t bin cc gen
th th LH nm trn cnh di ca nhim sc th s 9 (9q) v FSH nm trn cnh ngn nhim sc th s 2
(2p21) (Hi chng suy sinh dc do suy trc h i tuyn yn hay cn gi l hi chng HH
hypogonadotrophic hypogonadism); (3) Cc ri lon trong s pht trin ca tuyn yn.
Hormon kch dc t GnRH ch tit LH v FSH v t l LH/FSH t l thun vi s bin thin ca GnRH.
Nhng bnh nhn b hi chng HH cho hm lng testosterone thp v nhng bnh nhn b hi chng
Kallman cho lng hormon phng thch kch dc t GnRH thp dn n cho nng FSH, LH thp c th b
v sinh do qu trnh pht trin bit ha ca cc t bo mm sinh dc v c quan sinh dc ca cc bnh nhn
ny b tn hi v thiu cc hormon sinh dc ny, lm nh hng n qu trnh sinh tinh v th tinh ca nhng
bnh nhn ny.
Bnh v sinh nam cn chu tc ng ca cc ri lon di truyn n gen v cc gen ny di truyn theo quy
lut ca Mendel. C trn 50 loi di truyn n gen lin quan n v sinh nam, v mt s trong c bit
r.
C hai gen quan trng lin quan n qu trnh sinh tinh l gen th th androgen (AR) nm trn nhim sc th
X v gen iu ha tnh thm qua mng x nang (CFTR) nm trn cnh di ca nhim sc th s 7. Nu mt
trong hai gen ny b t bin im s dn n qu trnh sinh tinh b tht bi. Khi gen AR b t bin, th ngi
nam c b nhim sc th l 46,XY s c kiu hnh bn ngoi ca mt ngi n (do estrogen t tuyn thng
thn) v bn trong bt th (do chu nh hng ca AMDF, khng c c quan sinh dc n ). Khi gen CFRT b
t bin s dn n bt sn bm sinh ng dn tinh hai bn chim t l 2 6%.
Mt trong cc tn thng di truyn lin quan n bnh l nhng bnh nhn v sinh nam l mt on nh
trn cnh di ca nhim sc th Y (Yq). nhng trng hp tn thng ny 13% v tinh, 1% - 7% thiu tinh,
5 % tn thng tinh hon nguyn pht vi mt tinh trng t hn 5 triu /ml. S mt on De novo trn
nhim sc th Y l mt trong nhng bt thng ph bin nht, gp phn lm tng s ti t hp gia cc trnh
t lp li trong qu trnh gim phn hoc trong nhng giai on pht trin sm ca qu trnh tin cy phi.
Ngoi nhng bt thng trong b gen, nhng bnh nhn v sinh nam cn gp nhng bt thng DNA ti
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

th. Nhng trng hp bt thng ny s nh hng n kh nng di chuyn ca tinh trng do cc t bo ti
th l ngun cung cp nng lng ATP cho tinh trng.
S ri lon di truyn n gen cng c th kch thch di truyn a gen cng vi iu kin mi trng bt li
cng l mt trong nhng nguyn nhn di truyn gy v sinh nam. V d gen MTHFR t bin v tr
C677T ca tinh trng ngi nam c th dn n lm tng s ri lon di truyn a gen gy d tt ng thn kinh
cho thai nhi.
Tuy nhin, trong tt c cc nguyn nhn di truyn th nguyn nhn ri lon di truyn do mt on trn nhim
sc th Y l nguyn nhn c bit quan trng v n c th chuyn nhng bt thng di truyn cho th h con
chu.
Xt nghim QF-PCR
QF-PCR l vit tt PCR hunh quang nh lng (quantitative fluorescence PCR). y l mt k thut PCR
dng khuch i cc on DNA ngn c hiu, nh du bng tn hiu hunh quang v nh lng bng
in di mao qun.
QF-PCR c dng kim tra liu gen, v d: s lng bn sao ca gen trong 1 mu kho st, s lng ca
cc on nhim sc th. Cc nhim sc th thng c kho st bng QF-PCR l nhim sc th 13, 18, 21,
X, Y.
Hin nay QF-PCR thng c ch nh trong chn on nhanh trc sinh ri lon nhim sc th cho cc
trng hp thai nguy c cao b Hi chng Down, Hi chng Edwards, Hi chng Turner, Hi chng
Klinefelter
Loi mu c th s dng cho k thut ny gm: mu, dch i, gai nhau, dy rn, mu dy rn.
Kt qu xt nghim QF-PCR nh sau:

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Xt nghim FISH
FISH l vit tt ca t lai ti ch pht hunh quang (fluorescence in situ hybridization). y l k thut di
truyn t bo c s dng pht hin c hay khng s hin din ca mt trnh t DNA c hiu trn cc
nhim sc th.
Cc on d DNA c nh du hunh quang c lai gn ln cc v tr tng ng trn nhim sc th mun
tm hiu. Sau lai, sn phm c kho st di knh hin vi tm tn hiu hunh quang ca cc on d c
lai.
S c hay khng c tn hiu hunh quang gip suy ra c hay khng c s hin din ca nhim sc th c
hiu tng ng.
FISH thng c dng tm kim cc c im ca DNA nhm mc ch chn on, t vn di truyn, iu
tr v xc nh t bin nhim sc th, xc nh ging loi. Ngoi ra FISH cn c dng xc nh mRNA
trong nh gi s biu hin ca gen trong t bo v m kho st.
Hin nay FISH thng c ch nh trong chn on nhanh trc sinh ri lon nhim sc th cho cc trng
hp thai nguy c cao b Hi chng Down, Hi chng Edwards, Hi chng Turner, Hi chng Klinefelter
Loi mu c th s dng cho k thut ny gm: mu, dch i, gai nhau, dy rn, mu dy rn.
Kt qu xt nghim FISH nh sau:

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Xt nghim gen bnh Thalassemia
Thalassemia l bnh thiu mu di truyn, hng cu v, thiu oxy trong c th v nh hng n hot ng
bnh thng ca cc c quan khc. Bnh rt ph bin Vit Nam, vng ng Nam , Trung Quc
Bnh thalassaemia c phn loi thnh 2 th l alpha thalassemia v beta thalassemia.
Bnh alpha thalassaemia thng gy thiu mu nh hn, mc thiu mu rt thay i. Trng hp nghim
trng nht ca bnh alpha thalassemia l ph nhau thai lm cho thai b cht lu trong t cung hoc cht sm
sau sinh.
Bnh beta thalassaemia nu ch mang gen t bin th c th ch b thiu mu nh v t khi cn phi iu tr.
Tuy nhin trong trng hp c hai gen beta u b t bin th tnh trng thiu mu thng rt nghim trng,
cn phi truyn mu thng xuyn v iu tr lin tc. Bnh nhn thng biu hin ngay trong nm u i
v tin lng trong iu kin y hc hin nay thng km.
Nu khng c iu tr ph hp lch, gan v tim s gin ln. Xng tr nn mng v gin. S tp trung bt
thng ca st (th pht sau khi hng cu v) vo cc c quan nh tim, gan, ty c th lm cho cc c quan
ny b suy. Suy tim v nhim trng l nguyn nhn gy t vong hng u cc bnh nhn ny.
Cc t bin gen gy bnh thalassemia c kho st bng k thut PCR, MLPA, gii trnh t gen (DNA
sequencing).
i tng cn xt nghim gen thalassemia gm:

Ngi nghi ng b bnh thalassemia th n (mang gen bnh) hoc th nng

Cc cp v chng mang gen bnh

Cc trng hp thai c nguy c b bnh thalassemia

Bnh thiu mu di truyn thalassaemia

nh ngha bnh thalassaemia
Thalassemia (tha-lat-x-mi-a) cn gi l thiu mu min bin l mt bnh di truyn gy gim sn xut hoc
to ra huyt sc t bt thng. y l thnh phn cha trong t bo hng cu c chc nng vn chuyn oxy
n cc c quan trong c th. Ri lon s dn n tnh trng ph hy hng cu, lm thiu mu, thiu oxy trong
c th v nh hng n hot ng bnh thng ca cc c quan khc.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Bnh kh ph bin Vit Nam v nhng c dn thuc vng ng Nam , Trung Quc, n , Chu phi
v a Trung Hi.
Nguyn nhn v phn loi
Bnh thalassaemia c phn loi ty theo chui acid amin trong thnh phn huyt sc t b ri lon, bao gm
chui alpha v chui beta. Ngi bnh thng c bn gen alpha v hai gen beta. t bin gen alpha hoc beta
to ra s mt cn bng v chui acid amin alpha v beta c sn xut. Bnh cng c phn nhm theo s
lng gen b t bin trong c th.

Bnh alpha thalassemia chui alpha b t bin

Ngi bnh thng khng c gen alpha no b t bin

Ngi lnh mang gen bnh mt gen b t bin
Bnh alpha thalassaemia nh hai gen b t bin
Bnh thiu mu HbH ba gen b t bin
Ph nhau v thai bn gen b t bin

Bnh beta thalassemia chui beta b t bin

Ngi bnh thng khng c gen beta no b t bin

Bnh beta thalassaemia nh mt gen b t bin
Bnh beta thalassaemia nng (bnh Cooleys) hai gen b t bin

(Gen t mu xanh l b t bin)

Cc triu chng ca bnh
Cc triu chng ca bnh thng xut hin sm trong vng 3 6 thng u i nh:

Thiu mu mc nh, va hoc nghim trng

Xanh xao, da vng, lch to
Mt mi, chm chp, bing n
Xng ph i v d gy
Ri lon tng trng
D mc bnh nhim trng
Ri lon ni tit nh chm dy th, tiu ng, ri lon tuyn gip
Suy tim, kh th
Bt thng gan v mt

Bnh alpha thalassaemia thng gy thiu mu nh hn, mc thiu mu rt thay i. Trng hp nghim
trng nht ca bnh alpha thalassemia l ph nhau thai lm cho thai b cht lu trong t cung hoc cht sm
sau sinh. Th ny c bit ph bin cc nc ng Nam nh Vit Nam, Thi Lan, Philippines.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Bnh beta thalassaemia nu ch mang gen t bin th c th ch b thiu mu nh v t khi cn phi iu tr.
Tuy nhin trong trng hp c hai gen beta u b t bin th tnh trng thiu mu thng rt nghim trng,
cn phi truyn mu thng xuyn v iu tr lin tc. Bnh nhn thng biu hin ngay trong nm u i
v tin lng trong iu kin y hc hin nay thng km.
Nu khng c iu tr ph hp lch, gan v tim s gin ln. Xng tr nn mng v gin. S tp trung bt
thng ca st (th pht sau khi hng cu v) vo cc c quan nh tim, gan, ty c th lm cho cc c quan
ny b suy. Suy tim v nhim trng l nguyn nhn gy t vong hng u cc bnh nhn ny.
Chn on
Chn on thng c da vo tin s bn thn v gia nh, thm khm cc triu chng, v xt nghim chn
on nh huyt , pht mu ngoi vi, in di huyt sc t, xt nghim st trong mu, v kho st DNA tm
t bin gen.
iu tr
Cc phng php iu tr ch yu l truyn mu, iu tr thi st ng trong c th, ct lch, ghp ty. Phu
thut ct lch gip ko gin thi gian gia cc t truyn mu.
St c th ng trong c th do hu qu ca vic truyn mu thng xuyn. Thuc thi st c s dng khi
vo c th s gn vi lng st d tha v thi ra nc tiu.
Phng nga
Bnh c th phng nga bng cch xt nghim tm sot v chn on tnh mang gen t bin gy bnh trong
thi k mang thai. Cc thai ph s c xt nghim huyt tm sot tnh trng mang gen t bin. Xt
nghim tm sot s c thc hin ngi chng nu thai ph c xc nh l mang gen t bin. Trong
trng hp c v v chng u l ngi mang gen t bin th thai c nguy c 25% b mc bnh th nng
do cn c chn on trc sinh bng cch chc i hoc sinh thit gai nhau v kho st DNA.
c bit i vi cc gia nh c con b thalassaemia nng nn c t vn v chn on sm tnh trng ca
thai.
Xt nghim huyt hc tm sot trc sinh Thalassemia
Huyt :
Hng cu cha hemoglobin c chc nng vn chuyn oxy ti cc m v c quan. Xt nghim huyt nhm
nh gi cc ch s hng cu quan trng, da vo c th bit c thiu mu hay khng:

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Cc ch s
Hb: Hemoglobin
RBC: s lng hng cu
MCV: th tch trung bnh hng cu
MCH (=Hb/RBC): Hemoglobin trung bnh hng cu
MCHC(=Hb/Hct): nng hemoglobin trung bnh hng cu

Gi tr bnh thng
13,5g/dl
4,2-5,4 triu
80-100Fl
27-31pg
32-36g/dl

Cc gi tr ny c th thay i ty theo phng th nghim, vi ngi ln, nu MCV<80fl, MCH<27pg c th

l ngi thiu mu nhc sc do mang gen Thalassemia hoc thiu mu do thiu st. Phng php ny
c WHO khuyn co s dng v tin li, c bit i vi nhng ngi khng chuyn ngnh huyt hc.
Pht mu v xt nghim hnh thi hng cu
Nhng thay i v hnh thi hng cu c th tm sot c hu ht trng hp mang gen Thalassemia. Nhng
thay i hnh thi thng gp khi quan st di knh hin vi l: hng cu nh, nhc sc, kch thc khng
u..., ngoi ra cn gp c th gp hng cu li, hng cu hnh limTuy nhin, trong tm sot trc sinh
Thalassemia th xt nghim ny t c s dng.
St huyt thanh
Thng s dng cc xt nghim: o ln st tng s (TIBC) v ferritine. Xt nghim ny phn bit thiu
mu nhc sc do mang gen thalassemia hay do thiu st. Tuy nhin, c mt s trng hp mang gen
thalassemia kt hp vi thiu st nn vi thiu mu nhc sc c thiu st cn b xung st v lm xt nghim
mu li.
in di Hemoglobin
L xt nghim xc nh thnh phn cc loi Hemoglobin (tiu n v vn chuyn oxy) trong mu.
C rt nhiu loi Hemoglobin tn ti trong mu, ph bin l: HbA, HbA2, HbF, HbE, HbS, HbC, HbH
ngi trng thnh bnh thng c cc thnh phn sau:
- HbA: (gm 2 chui alpha v 2 chui beta: 22) 97-98%,
- HbA2 (22): khong 2-3%
- Rt t HbF (22).
Gi tr cc xt nghim huyt hc trong tm sot Thalassemia
* Ch s hng cu gim v in di Hb bnh thng: c th xy ra cc trng hp:
- Thiu mu thiu st
- Alpha Thalassemia th n
- Mang gen t bin beta Thalassemia dng nh (HbA2 mc bnh thng cao)
- Mang gen d hp t t bin kt hp Thalassemia
- Mang gen d hp t t bin -Thalassemia
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

* Ch s hng cu bnh thng hoc mc ranh gii v HbA2 tng: c th kt hp vi Thalassemia
* Ch s hng cu gim hoc bnh thng, HbF tng, HbA2 bnh thng: d hp t Thalassemia hoc
bnh HPFH.
* Ch s hng cu bnh thng v in di Hb bnh thng: c th gp trong trng hp mang 3 gen alpha
hoc t bin beta Thalassemia dng nh.
Ch nh xt nghim huyt hc tm sot Thalassemia trc sinh:
- Sng lc sm nhng ngi sp lp gia nh
- Ph n c thai
- Chng ca thai ph c xt nghim huyt hc bt thng
- Gia nh c ngi mang gen hoc b bnh Thalassemia.
- Cp v chng c con b bnh Thalassemia.
Vic s dng cc xt nghim huyt hc tm sot Thalassemia trc sinh thc hin theo quy trnh sau:

Xt nghim gen bnh lon dng c Duchenne

Bnh lon dng c Duchenne (Duchenne muscular dystrophy) l bnh di truyn thn kinh c ph bin nht
ngi. T l bnh xy ra khong 1/3.500 tr trai sinh sng. Bnh DMD c cc c trng sau:

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

C tnh di truyn.

Tt c cc triu chng u l do yu c gy nn, khng ri lon thn kinh v cm gic.

Din tin nng dn, thoi ha c khng ngng v khng hi phc.

Cc triu chng khu tr ch yu c vn, i khi c trn v c tim cng c th b.

Bnh nhn DMD thng b nhc c xut hin sm t 2 3 tui, tin trin nhanh, khi u t nhng thay i
vi m cc c, c khng cn xng hai bn, sc c yu dn, cui cng l lit mm v x ha ca c, mt
kh nng i li v cht la tui 20 do tn thng c tim v ri lon h hp.
Bnh do t bin gen dystrophin gy ra, vit tt l gen DMD. y l gen ln nht ngi di 2.400 kb nm
trn nhim sc th X v tr Xp21.2, gm 79 exon m ha 14 kb mRNA.
Bnh c c im di truyn gen ln nm trn nhim sc th X. C th n 46,XX mang gen bnh l ngi c
mt NST X mang gen t bin. Ngi n mang gen thng khng biu hin bnh nhng li c 50% kh nng
truyn gen t bin ny cho con trai hoc cho con gi. Mt s trng hp him c th gp b gi c biu hin
bnh do b gi ch c mt NST X (hi chng Turner 45,X), hay do hin tng bt hot ca NST X bnh
thng cn li ca cp XX.
c th nam 46,XY ch c mt NST X. Nu NST X mang gen t bin th c th nam s c biu hin bnh
cc mc nh trn. Hu ht cc trng hp con trai b bnh l do tha hng NST X mang gen t bin t
m.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Phng php phng nga tch cc l chn on thai trc sinh cho cc cp v chng c con mc bnh
hoc c ngi thn trong gia nh b mc bnh. Phng php ny c thc hin rng ri v thnh cng ti
nhiu nc trn th gii v ti bnh vin T D nh vo cc k thut sinh hc phn t.
i tng cn xt nghim gen DMD tm t bin gy bnh lon dng c Duchenne l:

Ngi nghi ng b bnh Duchenne

Cc cp v chng c con b bnh

Cc gia nh c ngi thn b bnh

Xt nghim gen gy Hi chng DiGeorge

Hi chng mt on nhim sc th 22, v tr 22q11.2 gy d tt bm sinh:

Khuyt tt tim: thng lin tht, thn chung ng mch, t chng Fallot

Khuyt tt tuyn c: suy min dch, d nhim trng

Khuyt tt tuyn cn gip: gim tit hoc-mn cn gip dn n gim canxi v pht pho trong mu

Khuyt tt mt: Ch hm v khe mi, mt di, tai nh v thp, 2 mt xa nhau, mt bp, mi trn mng
v c rnh ngn

Tr no: ri lon pht trin, ri lon hnh vi, hc tp v ngn ng km, ri lon tp trung, t k

Khuyt tt v thnh gic, gim th gic, chc nng thn km, th trng thp b

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Tr ln v ngi ln: trm cm, tm thn phn lit

i tng cn c xt nghim chn on gen tm mt on nhim sc th 22q11.2 l cc trng ngi ln,

tr em v thai nghi ng b Hi chng DiGeorge pht hin qua khm lm sng, cc xt nghim chn on v
chn on hnh nh nh khuyt tt tim, tuyn c
Xt nghim Cytomegalovirus DNA
Cytomegalovirus vit tt l CMV l loi virus thuc nhm Herpes, tn gi t t bo b nhim virus phng to
ln.
S ly nhim CMV xy ra theo nhiu kiu khc nhau. Nhim tui chu sinh v tr nh l ph bin nht. Giai
on sm th truyn qua nhau thai. Trong lc sinh khi tr i qua ng m o v sau sinh nhim qua sa m.
tr nh th truyn qua sa v dch tit ca m. Lc ln th truyn qua ng sinh dc, CMV hin din trong
tinh dch v dch tit c t cung. CMV cng ly truyn qua ng mu hoc do ghp c quan.
Mt khi b nhim th ngi bn s mang CMV sut i d cho khng c triu chng.
80% ngi ln c khng th khng CMV.
Nhim CMV thng khng gy triu chng v v hi. Tuy nhin i vi ngi suy gim min dch hoc ph
n ang mang thai tnh trng nhim CMV c th dn n cc nh hng nghim trng n sc khe.
T l mc tng ln nhng ngi nhn c quan ghp, ha tr trong ung th Bin chng thng gp l vim
phi, c bit vim phi k.
CMV l nhim trng gy d tt bm sinh ph bin nht M. Mi nm c khong 40.000 tr sinh b nhim
CMV. Trong s ny c khong 4.000 tr b nh hng nng nh chm pht trin tr tu, mt kh nng hc tp,
ic bm sinh, m bm sinh v nhiu khuyt tt khc do nhim CMV bm sinh gy ra.
i tng xt nghim tm DNA ca CMV nh tnh v nh lng s lng virus:

Ph n mang thai ng mi b nhim CMV.

Cc trng hp thai d tt bm sinh nghi ng do nhim CMV.

Cc trng hp chun b ghp tng ghp c quan.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Tr s sinh nghi ng bnh CMV bm sinh vi du hiu vng da, thiu mu, lch v / hoc gan to, u
nh; hoc tr s sinh b vn thnh gic v th gic, vim phi, co git, chm pht trin tm thn.

Loi mu xt nghim: mu, dch c th, m.

Cytomegalo Virus
1. nh ngha:
Virus Cytomegalo (CMV) l loi virus thuc nhm Herpes, tn gi t t bo b nhim virus phng to ln. y
l tc nhn c th gy nhiu bnh cho mi nhm tui, t nhng bt thng bm sinh n cc ri lon bnh l,
c bit ngi suy gim min dch.
2. S ly truyn v dch t:
- CMV c mt khp ni trn th gii, ch gy dch nh. Cuc sng cng ng v v sinh c nhn km l
iu kin thun li cho s ly truyn bnh; khong 1% s sinh nhim CMV, t l ny cao hn cc nc ang
pht trin.
- CMV c th hin din trong sa m, nc ming, phn ngi v nc tiu. S ly truyn theo nhiu kiu
khc nhau. Nhim tui chu sinh v tr em nh xy ra rt thng xuyn. Giai on sm th truyn qua nhau
thai, trong lc sinh v trong sa m. tr nh th truyn qua nc bt. Lc ln th truyn qua ng sinh dc,
CMV hin din m thm trong tinh dch v dch tit c t cung. N cng truyn qua ng mu hoc ghp c
quan. 80% ngi ln c khng th.
- Khong 40-80 % ngi ln b nhim CMV ti Hoa K trc tui 40. cc nc ang pht trin t l ny
cao n 90 %.
3. Tnh cht:
CMV c tnh c hiu loi v t bo, v cu trc v hnh dng tng t nh nhng herpesvirus khc, nhng
CMV ch c n c 1 serotp .
Virus thng n trong nguyn bo si phn chia v tng trng, c phn lp t t bo biu m k ch v
to nhiu th vi.
4. Sinh bnh hc:
- Ngi l k ch t nhin. Ly truyn t ngi sang ngi. Dng CMV ng vt khng gy bnh cho ngi.
a s ngi b nhim pht hin c nh xt nghim.
- T l mc tng ln nhng ngi nhn c quan ghp, ha tr trong ung th Bin chng thng gp l
vim phi, c bit vim phi k.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

- Mt khi b nhim th ngi bnh s mang CMV sut i d cho khng c triu chng. CMV thng ng
yn trong t bo bch cu, s ti hot CMVc th xy ra khi cc t bo min dch Lympho T b suy yu, do
bnh nh nhim HIV hoc s dng thuc c ch min dch.
- Trong trng hp bnh lan ta c th tm thy CMV nhiu c quan, do s lan ta ca cc i bo cha th
vi nhng s lng i bo khng phn nh c s ri lon chc nng ca cc c quan b nhim.
5. Bnh hc:
Nhim CMV ngi ln v tr em ln:
Nhim CMV gy ra Hi chng tng bch cu n nhn
nhim trng. Thi gian bnh 20 60 ngy, xut hin triu
chng bnh sau 2 6 tun vi cc triu chng: st ko di,
i khi lnh run, suy yu, kh chu; au c, lch to, vim
hng xut tit v vim hch c;bt thng chc nng
gan v bnh l lympho bo. Bnh thng nh, hu ht bnh
nhn hi phc khng di chng nhng vim gan cn lm sng
li thng gp. Rt him khi nhim CMV a n t vong,
tr cc trng hp bnh nhn b suy gim min dch. c
bit bnh nhn c ghp thn, ghp ty b nn min
dch li bin chng vim phi m k vi t l cao.
Nhim CMV chu sinh:
- Tr s sinh c th b nhim CMV trong lc sinh khi ngang qua m o hoc nhim sau sinh khi b sa m
hay do tip xc vi cc dch tit khc ca m. 40 60 % tr s sinh b m hn mt thng m m c huyt
thanh dng tnh vi CMV s b ly nhim.
- a s cc tr ny u khng c triu chng, mt s tr c th c triu chng vim phi k ko di. Mt s
triu chng khc hay gp nh cn nng lc sinh thp, vim hch, ni mn, vim gan, t bo lympho tng v
thiu mu.
- CMV c kh nng c thi khng lin tc t hu hng v nc tiu trong nhiu thng, thm ch nhiu nm.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Nhim CMV bm sinh:
- Tr nhim virus trong thi k thai nghn gy
bnh th vi t bo khng l. T bo khng l
c to thnh gi l Cytomegalo, c nhiu nhn
ni bt, nhiu th vi trong nhn. Nhiu c quan
cng b nhim dn n bt thng bm sinh.
- Hu nh ch nhng thai nhi c m b nhim
CMV ln u trong khi mang thai mi c triu
chng lm sng.
- Thai nhi c nhiu dng biu hin lm sng t
khng c triu chng n th nng v lan rng
ton thn. Mt s triu chng nh m mng
xut huyt, gan, lch to, vng da (60-80%), teo
no v u nh, nhu m no b vi ha, chm
pht trin trong t cung(30-50%), thot v bn v
vim vng mc t thy hn.
Xt nghim cn lm sng: men gan tng, tiu cu gim, bilirubin cao, tn huyt, protein trong dch no ty
cao.
Tin lng xu: t l t vong 20 - 30% , nu cn sng st c th dn n tr tr tm thn tr v ic khi ln
ln. Gn nh cc trng hp CMV bm sinh khng c triu chng lm sng r rt v sau ny, 5-25% s b
chm pht trin tm thn, m, rng hng bt thng.
6. Chn on:
Cc xt nghim gip chn on xc nh nhim CMV: phn lp siu vi CMV, tm khng th - khng nguyn
CMV, th nghim PCR tm CMV-DNA hoc quan st trc tip bng
knh hin vi in t.
Phn lp virus:
- Bnh phm: nc ra hng, nc tiu.
- Cy bnh phm vo t bo v quan st s thay i t bo sau 1-2
tun l s cho hnh nh t bo b phng to cha nhiu th vi trong
nhn t bo.
- Do s hy hoi t bo xy ra chm (1-2 tun) nn khuyt im ca
phng php ny l thi gian c kt qu lu.
- Phn lp virus kt hp vi chuyn i huyt thanh l phng php
tt nht chn on s nhim CMV ngi bnh thng.
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Chn on huyt thanh hc:
- Th nghim trung ha, min dch hunh quang tm khng th rt hu ch trong chn on cc trng hp
nhim trng bm sinh nhng khng c biu hin lm sng.
- Khng th c hiu chng virus Cytomegalo l IgM, IgA v IgG. Khng th c trong sa m khng ngn
chn c s ly truyn t m sang con v hn ch c s trm trng ca bnh.
- Khi nhim CMV th mang IgG dng tnh sut i
7. Phng bnh:
- Hin vn cha c vaccine d phng CMV.
- Sng lc k mu trc khi truyn mu, sng lc ty xng tng ghp trc khi a vo ngi nhn
- Tr b bnh th vi t bo khng l thi virus qua nc tiu phi cch ly vi nhng tr khc.
- C th s dng CMV-globulin min dch tim hn ch bt cc trng hp nhim khi ghp tng hoc d
phng nhim cho cc b c m nhim tin pht CMV trong lc mang thai. Acyclovir hay valacyclovir c th
hn ch bt s ly nhim CMV cho ngi nhn tng ghp.
8. iu tr:
Hin cha c thuc iu tr c hiu cho ngi nhim CMV.
Ganciclovir c th lm gim triu chng ngi suy gim min dch nhim CMV.
D- Xt nghim nhim sc th
E- Xt nghim gen
Xt nghim gen AZF
AZF vit tt ca Yu t gy v tinh trng (Azoospermia Factor) l gen nm trn nhim sc th Y (v tr
Yq11). Gen thng b t bin mt on nhng nam gii b v sinh do thiu tinh trng nng hoc khng to
c tinh trng. y cng l nguyn nhn di truyn gy v sinh hng u nam gii.
Xt nghim gen AZF c ch nh i vi v sinh nam suy gim hoc khng c tinh trng tm nguyn
nhn v sinh v gip chn phng thc iu tr h tr sinh sn thch hp.
Gen AZF c kho st bng k thut PCR khuch i on DNA c hiu nm trong vng AZFa, AZFb v
AZFc ca gen. Cc on khuch i c nh du bng hunh quang v phn tch bng h thng in di
mao qun.

F- Xt nghim gen
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G- Xt nghim di truyn trong him mun
H- Xt nghim di truyn trong sy thai lin tip
I- Xt nghim gen cc bnh huyt hc
K- Xt nghim gen cc bnh thn kinh c
L- Xt nghim gen cc hi chng bm sinh
M- Xt nghim gen xc nh gii tnh
N- Xt nghim sinh hc phn t nh danh virus
Xt nghim nh danh Human papillomavirus (HPV)
HPV l virus thuc h Papillomavirus. T nm 1949, HPV c tm thy trong nhn ca cc t bo ca
ngi b nhim di knh hin vi in t. HPV tn ti khu tr biu m, gy bnh v lm tng sinh biu m
cc v tr b nhim trn c th ngi. Di nhng iu kin c th tnh trng b nhim c th tr thnh cc
khi u biu m lnh tnh hoc c tnh.
Vai tr gy ung th c t cung ph n b nhim HPV c khng nh qua nhiu nghin cu. Vi c
im c th ly nhim qua tip xc tnh dc, nhim HPV l mt trong nhng bnh ly nhim qua ng tnh
dc ph bin nht. Mc d khng phi mi ph n b nhim HPV sinh dc u dn ti ung th c t cung
nhng tnh trng nhim tn ti ko di c cho l yu t quan trng nht dn n ung th CTC. Chnh v th
vic tm sot, xt nghim HPV c t cung, qun l tnh trng nhim v phng nga ly nhim HPV ng vai
tr thit thc trong cng tc chm sc sc kho ph n, phng nga ung th c t cung.
Cc HPV nhim hu mn sinh dc c chia thnh 2 nhm: nguy c thp v nguy c cao. Cc HPV nguy
c thp thy tn thng mn cc hay mng g sinh dc. Cc loi nguy c cao thng lin quan vi cc tn
thng c t cung mc cao v cc ung th c t cung xm ln.

Nguy c sinh ung th

Thp
Cao

Cc tp HPV
6, 11, 40, 42, 43, 44, 53, 54, 57, 61, 62, 72, 81, 83,
16, 18, 26, 31, 33, 35, 45, 51, 52, 55, 56, 58, 59, 66, 67, 68, 82

Xt nghim chn on HPV hin nay thng dng k thut Realtime PCR.
Loi mu xt nghim l dch qut c t cung hoc bnh phm chi si.
Ung th c t cung v nhim Human Papillomavirus
Ngy nay, bnh ung th c t cung (UTCTC) vn l gnh nng ca ton cu. Mi nm c khong
493.000 trng hp bnh mi, 274.000 ph n cht v UTCTC. Hin ti c 1,4 triu trng hp
UTCTC trn ton cu, v hn 80% UTCTC cc nc ang pht trin.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Ti Vit Nam UTCTC l loi ung th thng gp nht v c t l t vong cao nht trong tt c loi ung th
n gii. Tuy nhin, hin khng cn l ung th hng u n gii m ng hng th hai sau ung th v. C
khong 6.224 trng hp mc mi v 3.334 trng hp cht trong nm 2002 vi xut UTCTC v t sut l
20.2 v 11.2. Xut UTCTC min Nam cao hn min Bc (26,0 vs 6,1 / 100.000 ph n). Xut
UTCTC trong cc nm qua c xu hng gim dn, ASR =28,4 (1997) xung cn 16,5 (2003).

Ngun Globocan 2002

UTCTC l kt qu ca tnh trng nhim ko di mt hay nhiu type HPV sinh ung hay nguy c cao. Nhiu kt
qu nghin cu ghi nhn s hin din ca DNA HPV trong ung th c t cung trn th gii l 99,7%.
Human Papillomavirus (HPV)
HPV l mt lai virus gy ra bnh ly truyn qua ng tnh dc thng gp nht. Hin nay, c hn 100 tp
HPV c xc nh. C 30 - 40 tp vng hu mn - sinh dc.
Ngi ta chia cc tp HPV ra lm hai nhm. HPV sinh ung v HPV khng sinh ung hay cn gi l HPV nguy
c cao v HPV nguy c thp. Nhm sinh ung th c 15 - 20 tp, trong HPV 16 v HPV 18 l hai tp gy
ra UTCTC nhiu nht. HPV khng sinh ung thng gp nht l HPV 6 v 11 thng gy ra mn cc hu mn
sinh dc.
Cc loi HPV sinh ung l nguyn nhn ch yu ca UTCTC
Cc tp HPV
- Cc tp HPV sinh ung (nguy c cao): 16, 18, 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 68, 82.
- Cc tp HPV khng sinh ung (nguy c thp): 6, 11, 40, 42, 43, 44, 54, 61, 72, 73, 81.
- Cc tp HPV cha phn loi c: 26, 53, 66, 73
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

C ch ly truyn HPV
HPV khng ly truyn qua tinh dch hay cc dch tit ca c th, m qua ng tip xc da vi da.
Quan h tnh dc
- Giao hp.
- Sinh dc - sinh dc, tay - sinh dc, ming - sinh dc.
- Dng bao cao su c th gim nguy c nhng khng bo v hon ton.
ng khng tnh dc
- M sang con.
- Vt dng ( lt, gng tay, dung c khm, . v. v.).
a s ngi nhim bnh u khng hay bit v v tnh truyn bnh cho ngi khc.
Din tin t nhin ca nhim HPV sinh dc
- Hu ht ngi nhim HPV sinh dc qua ly truyn v khng c triu chng.
- 70% HPV mi nhim t nhin ht nhim trong 1 nm.
- 91% nhim HPV t nhin ht nhim trong 2 nm.
- Thi gian trung bnh cho nhim HPV mi l 8 thng.
- HPV 16 c thi gian nhim ko di hn nhng tp khc, nhng phn ln nhng ngi nhim HPV 16 khng
c pht hin trong 2 nm u.
- Ch c 10% ph n nhim HPV ko di v tn ti sau nhiu nm c nguy c pht trin thnh tn thng
mc cao (HSIL) hay l ung th.
- Nhiu ph n nhim HPV thong qua c Pap's l ASCUS hay LSIL. y l nhng bt thng nh ca t bo
do HPV gy ra sau khi nhim .
- Nhim nhng tp HPV sinh ung c th gy ra UTCTC v nhiu loi ung th khc nh dng vt, m h, m
o v vng hu mn.
- Mc d nhim HPV l iu kin cn pht trin UTCTC , nhng n khng phi l iu kin gy ra
ung th.
- Hu ht nhng ph n nhim HPV khng b ung th c t cung.
- Ung th c t cung c th ngn nga c bng pht hin sm nhng thay i bt thng ca t bo, qua
xt nhgim pht t bo c t cung.
Quan h tnh dc sm Ung th c t cung
Nghin cu trn 20,000 ph n cho thy, quan h tnh dc sm c lm tng gp 2 ln nguy c ung th
CTC ?
Tm hiu nguyn nhn ti sao ph n ngho c nguy c mc bnh cao hn, thy rng ph n tng lp ngho
c khuynh hng c quan h tnh dc sm hn 4 nm so vi ph n giu c.

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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

HPV ly truyn qua ng tnh dc l nguyn nhn ch yu ca ung th CTC

Trc y, ngi ta cho rng s khc bit giu ngho dn n vic t tm sot ung th khu nh ngho.
Mc d s khc bit v t l ung th CTC gia 2 nhm giu ngho c ghi nhn t lu, nhng nguyn
nhn ti sao vn cha c bit. Cng thm t l nhim HPV - 1 trong nhng bnh ly qua ng tnh dc
c
lin
quan
mt
thit
ti ung
th CTC,
l
bng
nhau gia
2
nhm.
Nghin cu khng nh t l b ung th cao trong nhm ph n tng lp ngho khng lin quan n t l
nhim HPV.
" Mc d HPV c th ly nhim cho ph
Nguy c mc bnh cao hn 2 ln nhm ph n tng lp ngho n bt k tui no, nhng nhim HPV
c gii thch l do h bt u c quan h tnh dc sm hn. khi cn rt tr dng nh nguy him hn
bi HPV c nhiu thi gian tc ng gy
Tui sanh con u lng cng l mt yu t quan trng. ung th CTC"
Nghin cu cng nhn thy yu t c tm sot bnh c hiu qu BS Lesley Walker - Trung tm nghin
gim
nguy
c
mc
bnh. cu ung th Anh
Tuy nhin, yu t s bn tnh v ht thuc l khng lin quan n nguy c ung th CTC.
Ch nhim ti, bc s Silvia Franceschi cho bit: nguy c ung th CTC cao hn nhm ph n bt u c
quan h tnh dc tui 20 so vi ph n bt u c quan h tnh dc tui 25
"Trong nghin cu ca chng ti, ph n tng lp ngho bt u c quan h tnh dc sm hn 4 nm so vi
ph n giu. C l v vy m h b nhim HPV sm hn, thi gian HPV tc ng ln CTC lm pht
trin
ung
th."
Bc s Lesley Walker - Gim c thng tin Trung tm nghin cu ung th Anh cho rng kt qu nghin cu
t ra nhiu cu hi th v . ng ni "Mc d HPV c th ly nhim cho ph n bt k tui no, nhng
nhim HPV khi cn rt tr dng nh nguy him hn bi HPV c nhiu thi gian tc ng gy ung th CTC.
Kt qu nghin cu cng cng c cho tm quan trng ca vic tim phng HPV cho cho cc b gi tui i
hc trc khi tr bt u c quan h tnh dc, v cng tc tim phng c bit quan trng i vi cc tr
sng trong hon cnh kinh t kh khn.
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

Pap' s smear bt thng

Dch t hc :
- Ti Hoa K, t l mc bnh l 8/100 000, c khong 10 000 bnh nhn mi mi nm. Cc bnh nhn ny :

50% cha tng c tm sot bng Pap's smear

10% trong vng 5 nm khng lm Pap's smear
Thng xy ra tui 45 n 49

- Trn th gii ung th c t cung ng th hai trong cc bnh ung th ph khoa v ng hng th ba dn n
t vong.
Tm quan trng ca Pap's smear :
- Ung th c t cung l loi ung th dn n t vong cao nht M khi cha c
Pap's smear.
- Pap's smear ra i vo nm 1941, l mt phng tin l tng tm sot v :

Ung th c t cung c mt giai on tin ung ko di nhiu nm.

R tin, d dng thc hin bnh nhn ngoi tr.

Yu t nguy c
- Nhim HPV: tnh dc khng an ton, nhiu bn tnh. Hot ng tnh dc sm
- Thuc l
- Suy gim min dch
- Kinh t thp.
- Tin cn mc cc bnh hoa liu.
- Lon sn m o, m h.
- Trong 5 nm cha tng lm Pap's smear.
Khi no c th thc hin Pap's smear
Theo American College of Obstetricians & Gynecologists (ACOG):
- Tm sot thng xuyn bng Pap's
- Pap's nn bt u sau 3 nm sau khi c quan h tnh dc (di 21) hoc t 21 tui tr i.
- Ph n di 30 tui tm sot mi nm.
- Ph n trn 30 tui tm sot mi 3 nm nu :

Kt qu Pap's 3 ln u m tnh
Pap's v HPV test u m tnh
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

- Ngng tm sot khi :

ct hon ton t cung v bnh l lnh tnh hoc ct hon ton t cung m khng c tin cn mc
bnh ung th.
ct hon ton t cung c tin cn CIN II, CIN III m 3 ln m tnh lin tip.
Ph n ln tui c thn.

Theo United States Preventative Services Task Force (USPSTF ) :

Ngng tui 65
Theo American Cancer Society (ACS) :
Ngng tui 70 tr trng hp nguy c cao.
Kt qu bnh l
Theo 2001 Bethesda System :
* ASCUS: Atypical cells of unknown significance
Tm sot mi 4 6 thng, nu 2 ln m tnh s lm mi nm.
Nu c HPV test :
(+) s chuyn sang soi c t cung.
(-) Pap's mi nm
* LSIL: Low-grade squamous intraepithelial lesion # CIN 1 => Soi c t cung
* HSIL: High-grade squamous intraepithelial lesion # CIN 2, CIN 3 => Soi c t cung
* AGUS: Atypical glandular cells of unknown significance => Soi c t cung km Sinh thit ni mc knh
c t cung
Lu :
* Kt qu Pap's smear: khng c t bo, qu nhiu mu, vim, thay i do phn ng :
Lp li sau 1 nm
Lp li sau 4-6 thng nu :

Tin cn bt thng Pap's smear

Nhim HPV
Suy gim min dch
HIV

* i vi bnh nhn HIV : lm Pap's mi 6 thng cho n khi m tnh 2 ln lin tip th s tm sot mi nm
* i vi ph n hu mn kinh :
Khng c t bo: Lp li sau 1 nm
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XT NGHIM DI TRUYN Y HC - BENHVATHUOC.COM

ASCUS: s dng estrogen gel trong 7 ngy v lp li Pap's
AGUS: soi c t cung v no sinh thit knh CTC.
O- Xt nghim trc chuyn phi (PGD)
P- Gii trnh t gen theo yu cu (DNA sequencing)

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