CHUYEN DE: HiNH THAI H9C

KHAo SAT vA DINH LUQ'NG ADN PHOI THAI TV DO
TRONG HUYET TUaNG CUA Mf: (J cAc TU.AN TVDI THAI
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TV' 6 TVAN DEN 22 TVAN BANG PHV'aNG PHAP REALTIME PCR
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Tri~u Ti~n Sang*, Tr~n Van Khoa*, Dinh Doan Long**

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TOM TAT
(I). Ma dau: Vi~e phat hi~n ra su' ton t(,licua
ADN phoi thai tl/ do va te bao phoi thai tl/ do
trong huyet tu'dng ella me da rna ra mQt hu'ong
chan doan tnnrc sinh moi bang bi~n phap khong
can thi~p. De djnh 1u'c;1.19
du'c;1C
ADN phoi thai tl/
do trong huyet tu'dng cue me chung toi
dl,mg
phu'dng phap Realtime -PCR dl/a tren ky thu~t
TaqManPCRRealtime co SU dl:mg cac dau do
huynh quang. Ky thu~t nay cho phep quan sat
du'c;1c


* HQc vi~n Quan Y
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dao dQng tir 76.9 d~n 769 copy/ml.
mau ngoai vi cua me a cac tu~n thai khac
Nghien ciru cua Costa 1M. Benachi A,
nhau. Co 30/60 twang hop mang thai nam.
Gautier E va cong str narn 2001 cung da
Tir bang k~t qua tren chung toi nh~n th~y dung ky thuat Realtime PCR d~ chimg minh
nong dQ ADN cua thai ky (1 tirng nguaj khac r~ng ADN phoi thai W do t6n tai trong mall
nhau la r~t khac nhau va co SI,l' bi~n thien tang ngoai vi ella me. Tac gia Alen Chan K.C. va
d~n n6ng dQ ham hrong cua ADN ph6i thai cs. (2004). tach chi~t va nghien CUlln6ng dQ
tV do theo S\l' tang dau ella tu6i thai. Tir bang
va ph an b6 kich thuoe ADN ph6i thai W do
nay chung toi ciing th~y r~ng n6ng dQ trung trong mall mt( cho thfty n6ng dQ ADN trong
blnh ctta ADN phoi thai W do trong mau mall m~ chi~m 3.4-6,2% so voi ADN t6ng
ngo{li vi ctta mt( a cac tu~n ttr tuan thtr 6 d~n s6. tac gia nghien Ctru trtn 156 ph\! nti' mang
tu~n thu 12 nay co dQ l~ch ehll:1n r~t 16n. va thai ttr tll§n thu 7 d~n tu~n thtr 16 clla thai kY·
ian han ca ghi tri tru'1g blnh di~u nay chung Trong nghien cuu Clla chtmg t6i n6ng dQ
to n6ng dQ ADN phoi thai nay dao dQng (1 ADN phoi thai a cac tll~n thai dao dQng tir
mQt khoang r~t Ion nhu a tudn 6 ctta thai ky 0,52% a 6 tufm tu6i thai d~n 3,7% a 12 tll~n
n6ng dQ trung blnh ella ADN ph6i thai W do tu6i thai. Chungwen Wei. Devereux N. Saller
trong mau ngo{li vi clta mt( la 50.69 ± 83.56 va C9ng s\r (2001) du dinh ltrqng ADN tv do
ban copy/mt. hay a tll~n thir 12 la 206.63 ± ctla ph6i thai trong huy~t tucmg ella m~ etla
742,55 copy/mt. Theo tac gia Lo YMD. Tein
30 ph\! nfT mang thai ttT tll~n thiT 9 d~n tu~n
MSC, Lau TK va cQrtg s\T (1998) nghien cuu thtr 17 Clla thai ky thdY co 19 trtT{'tng hqp
tren 27 ph\! nil' mang thai a quy d~u etla thai dmmg Hnh vai gen DYS 14, s6 ban copy clla
ky, qllY thtr 2 va qllY thu 3 Clla thai kyo cac gen nay dao d9ng ttT 13.8 d~n 291 copy/ml,
ph\l nil' nay mang tha~ b~ng ky thll~t IYF. cho v6'i n6ng d() gen DYS14 nay trong hlly~t
thdy a quy 1 clla thai ky s6 han copy clla gen tuang la ttT 1.28 d~n49.7%. voi 2 truang hQ'p
oYS 14 trong hlly~t tuang Clla m~ vao n6ng d9 r~t cao la 29,2% bi hQi chtmg Down.
khoang 4,0 d~n 58,1 ban copy/ml di~u nay va m9t tnrang hqp n6ng d9 cao d9t bi~n

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y H9c VI~T NAMTHANG11 '

Tir bang k~t qua so sanh tren cluing toi nhan
thay k~t qua ella cac tnrong hop nghien dill
tir tuan thir 8 d~n tufin thir 12 cua k9 thuat
Nested peR, Realtime peR. sieu am tufin thir
16 va sau sinh la phil hop nhau. Voi oQ chinh
xac la 100% va d9 nhay la 100%. Voi tuan
thai 6 co 4/60 tnrong hop chay Realtime -

56 f)~C BI~/2014

3.4. K~t qua bi~n thisn nAng dQ ADN
phoi thai tl}' do trong mau ngo~i vi ciia me
D~ kiern tra xem nong dQ ADN phoi thai

W do trong rnau ngoai vi cua me bien 06i
theo tu~n thai ella thai nhi chung t6i tien hanh
dinh luong cac mftll nghien ciru nay a cac
tuan tir 6 tufm o~n 22 tuan tuoi. K~t qua cho
thAy n6ng oQ bi~n thien nong dQ ADN phoi


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TU311!ha:

Hinb S.Biell do bien Ihien nilllg It9 AD:" II! do ella 1l11img bqp 19"

Hillb 10. Bieu 110biellihien non!!.do .\D:-; It~do ctia Imim!!.hl11l 301

145


CHUYEN DE: HiNH THAI H9c

Tir hinh anh cac bieu db v~ S\Tbien thien
nong dQ ADN phoi thai chung toi nhan thay
nong dQ ADN phoi thai t\T do trong mau
ngoai vi ella my bi~n thien thea tung d6i
nrong va co tinh eh~t ca th~. Theo tac gia Lo
YMD, Tein MSC, Lau TK va cong S\T(1998)
dll nghien cuu S\Tbien d6i ADN tv do trong
huy~t tuong ella my ella 12 tnrong hop lam
thu tinh bng nghiem IVF a cac tu~n thai ttr
tu~n d~u d~n 3 7 tu~n. K~t qua cho thdY neng
dQ ADN ph6i thai bi~n d6i thee tung ca th~
va ding co xu huang tang sb ban copy khi
tu6i thai cao d~n. Tren bieu db bien thien
nbng dQ ADN tv do trong huy~t tuong cua

DNA In Maternal Plasma. Clinical
Chemistry. 47. No. 2:336-338.
4. Lo YMD, Tein MSC, Lnu TK, Haines CJ,
Leung TN, Poon rMK,

IV. KETLU~N

(2004).

et al (1998).

Quantitative analysis of fetal DNA ill
Trong nghien clru nay chung t6i da ph~\t
maternal plasma and serum: implications for
hi~n va dinh lugng dugc nbng dQ ADN W do
noninvasive prenatal ciagnosis. Am J Hum
Clla thai nhi luu hanh trong huy~t tuang clla
Genet, 62:768-75.
m~ b~ng phuang phap realtime peR. Khao 5. Lo, Y. M., P. Patel, J. S. Wainscoat, M.
sat duQ'c nbng dQ ADN ph6i thai tv do trong
Sam pietro, M. D. Gillmer, and K. A.
mau ngo~i vi cua m~ a cac tu~n tu6i thai khac
Fleming () 989). Prenatal sex determination
nhau. Nghien ClrU miy chi cho chung toi thAy
by DNA amplification from maternal
duQ'c s\1'bi~n thien nbng dQ ADN ph6i thai tlJ
peripheral blood. Lancel, 2: 1363-1365.
do a tirng ca th~ lil kh6ng gibng nhau. Xu 6. Zolotukhina T.V. et al (2005). Analysis of
huang nbng dQ ADN phoi thai tv do t~ng dan
Cell-free Fetal DNA in Plasma and Serum of