TCNCYH Phy trUdng 80 (38) - 2012
PHAN TICH NHI§M SAC TH^ & 350 CAP V g C H 6 N G
S A Y T H A I L I E N T I ^ P V A S I N H C O N Bj D! TAT B A M SINH
Le Thuy Hang^ Nguyen Van RM'c^ Nguyin Ngan Hai, Dgng Thj Nham^
(V Truttng D^i hpc Y Hd Ndi, <^> Tru-irng D$i hQC Khoa h(?c Ti/ nhi6n
R6i lo^n nhiim sSc thi (NST) cin bing d ci hai bd me Id nguydn nhin chu ySu giy siy thai liin flip dac bi$t trong 3 thing diu Nghidn cuu nhim phit hi^n cic rSi lo$n NST 6 nhOng c$p va chdng siy thai lidn flip vi sinh con bi d/ lOt bim sinh. 2 Tu- vin vi nguy ca sinh sin & nhOvg c$p va chdng niy. Kit qui cho thiy 24 c$p (VQ' ho$c chdng) (ty 1^ 6.86%) cd rdl loan NST. 21 c$p rdi loan vi ciu tnjc : 19 chuyin do^nNST (11 chuyin doan tuang h&. B chuyin do^n hda hgp tim); 1 dirt nhinh dii NST s6 18 vi 1 <Sio do^n quanh tim NSTsd 9. 3 c^p rdi loan vi sd luxyng karyotyp li' 45.X{5}/46.XXf95]: 47.XXX(4)/46.XX[96]
vi 47.XXY[5}/46.XY195}
Tu khoa: Bat thudng nhiem sac the, say thai lien tiep I. DAT V A N D £
Rdi logn nhiem sic the (NST) een bing dan den giim khi ning sinh san d c i ngudi nam v i ngudi nu". Khoang 15% den 20% say thai lien tiep xay ra trong 3 thing dau cua thdi ky mang thai la do roi logn NST d phoi thai. 0 nhu'ng cgp vp' chong cd tien su say thai lien tiep va sinh eon bi dj tgt bim sinh cd the do nhieu nguyen nhan khic nhau nhu mOi trudng, nhilm trung, roi logn chuyen hda, nOi tiet, bat thudng tu cung v i y l u to di Iruyln...
0 nhO'ng c$p vy chong mang roi logn NST cin bing se lam eho cie NST rlt khd khan ve sy ghep cgp va phan ly trong qui trinh phit sinh giao iLP v i tao nen nhu'ng giao tu mang rOi logn NST khong can bing dan din chit ph6i hogc chet thai gay nen say thai ty nhien. Ddi khi thai cd the phit trien duyc dung ky hgn va sinh ra nhO'ng dua tre vdi nhieu dj tgt bim sinh hoac chgm phat then trl tuO [6].
Trong nhO'ng nam gin d i y cac phuang phip nuoi cay md va ky thuOt nhuOm tilu ban, dgc biOt l i cac ky thugt nhupm bing ngay cing phit trien v i cai tien khdng ngung d§ cho
phip elc n h i di truyen hpe phit hien duyc chinh xac tung chile NST v i nhung roi logn v l so luyng va c l u true cua NST. Vi vOy d l tii nghien cuu cua chung tdi la " Phan tich nhiem sic the d 350 c^p vpr chOng say thai liln tilp v i sinh eon bj dj tgt bam sinh" nhim myc tieu:
Nghien cuu nhim phat hiOn c i c rot logn nhiem sic the d nhung e§p vp"
chOng say thai lien tiep va smh con bj dj tgt bim sinh.
II. o 6 i TU-p-NG vA PHU'aNG PHAP 2.1. Doi tup-ng nghien CLPU
Tu thing 5/2009 den 5/2011, tong so 350 c$p vp" chong c6 tien su siy thai lien tiep v i sinh con bj d| tgt bam sinh t u c i c bpnh vign Phu san Trung uang, Phy san Ha NOi, khoa San bOnh viOn Bgch Mai... gui d i n bO mdn Y Sinh hpc-Di truyin yeu c l u xet nghiOm NST.
2.2. PhU'O'ng phap nghien CLPU - LOp ho sa bOnh i n di truyen v i x i y dyng sa d6 gia hg theo tilu chuan qu6c t l .
- Nuoi cay te b i o bgeh eiu lympho miu 24
TCNCYH Phi,! tradng 80 (3B) - 2012 ngo?i vi theo phu'ong phap cua Hungerfor
D.A(1965) [3]. Nhupm tieu ban bing phu'ong phap nhupm bang G theo phuang phap cija Seabright M (1971) [4]. PhSn tich NST va l$p karyotyp theo tieu chuan cua ISCN (2009)[5].
III. K^T QUA
Tong s6 350 cjp vp chong (700 tru'png hpp) c6 tien sir say thai lien tiep va sinh con bj di tat bam sinh dupe xM nghipm NST,
phan tich va l?p karyotyp. Chljng toi da phat hipn duac dupe 24 cap vp chdng (va hoac chong) (chiem ty Ip 6,86%) cd bieu hien rdi lo?n NST
24 tru'O'ng hpp (vp hoac chong) bieu hipn roi lo?n NST, trong d6 21 truong hpp (ty 1$ 87,5%) c6 bieu hipn roi logn v& cau true va 3 tru'O'ng hpp (ty Ip 12,5%) cd bieu hipn ve so lu'png.
Bang 1. Sy phan bo cac kieu roi logn cau true nhiem sac the a cac cap vp.
Cac kieu roi loan cau trijc NST Chuyen doan Mat doan*
Dao doan**
l o n g s6
n 12
1 1 14
Ngu'd'i vp"
%
85,72 7,14 7,14 100
Ngu'd'i chong
n % 7 100 0 0 0 0 7 100
* Mat doan nhinh dii NST so 18: karyotyp t i 46,XX,del(18)(q21)
** Dao doan quanh tim NST so 9: karyotyp l i 46,XX,inv(9)(p13q13)
Tong s6 19 tordng hyp (vy hoge chdng) mang NST chuyen doan can bing bao gom 11 trudng hap la chuyen dogn tuang hd va 8 trudng hyp la chuyen doan hda hyp tam.
Bang 2. Sy phan bo cac kieu chuyen doan giii-a cac NST trong chuyen doan hda hyp tarn Cac kieu ch
t(Dq;Dq)
t(Dq;Gq)
t(Gq;Gq)
uyen doan t(13q;13q) t(13q;14q)
t(14q;21q)
t(21q;21q)
Ngu'd'i 1 2
2
1
vp' Ngu'd'i chong
0 1
1
0
25
TCNCYH Phu trJOng 80 (3B) - 2012
Bang 3. Cac k i l u karyotyp ve sg' chuyin dogn tu'O'ng ho * cac c?p vp- chAngsay thai lien tiep va sinh con bj d| t$t b^m sinh
Cac kieu karyotyp Ngu'al vp- Ngu'd'i chong 46,XYt(7 ,10)(q36;q24)
46,XYt(8;9)(p21;p22) 46,XYt(2i10)(q13;p13)
46,XYt(1 ;5)(q44;q15) 46,XYl(9;12)(p12;p13) 6
7 8 9 10 11
46,XX,t(7,14)(p22;p22) 46,XX,t(11 ,15)(q26,q22) 46.XX,t(7;21)(p12;q11 2) 46,XX,t(12,14)(p11.2;p11.2)
46,XX,l(2,16)(q13;q14) 46,XX,t(6;8)(q21,p21)
5
Tong so
Bang 4. Cac kieu karyotyp bat thudng xay ra d cgp NST gidi tinh d cac cgp vp- chong say thai lien tiep va sinh con bi dj tgt bam sinh
Cac kieu karyotyp Ngu'o'i vp- Ngipo'i chong 45,X[5]/46,XX[951 1 47,XXX[4]/46,XX[961 1
47,XXY[5];46,XY[95] 1
Tong so 2 1
IV. BAN LUAN
Say thai ti/ nhiSn va chu ylu trpng 3 th^ng dlu cua thai ky mang thai phin Id'n la do r6i ld?n NST ve so lirpng cua phSi thai. Khoang 60% la trisomi, 20% IS monosomi X va 15%
la da bpi the, dac bipt la tam bpi. Tru'd'ng hpp thai CO bat thudng ve s6 lupng NST vk khi xet nghipm NST cua bo mp thi phin Id'n bp NST cija.bo mp IS binh thuc^ng va nguy ca tai dien mang thai lln sau vd'i trisomi la khoSng 1 %.
Khpang 7% cac cSp vp ch6ng cd It nhlt 2 lln
say thai li§n tilp g$p 6" nguai vp ho$c ching cd bilu hi^n r6i losn NST v l c l u tnJc va hay g?p nhlt la mang NST chuyin dogn [6],
Azim M. vS cSng sij' (2003) [1] phan tich NST a 300 cgp vp chong c6 tien su say thai lien tiep da phat hi$n dupe 16 c$p (vp ho$c ching) (ty 1$ 5,3%) od bilu hipn r6i logn NST bao gIm :7 trud'ng hpp mang NST chuyin dogn can bing (5 trud'ng hpp chuyin dogn tuang h6 va 2 tnj'd'ng hpp chuyin dogn hda hpp tam), 5 tnj'd'ng hpp dao dogn quanh tam 26
T C N C Y H Phy trUdng 80 (38) - 2012
(4 t r u d n g h y p ggp d NST sd 9 v i Itrud'ng h y p ggp d NST s6 16), 2 t r u d n g h y p m i t dogn (1 mat dogn d n h i n h n g i n NST so 1 6 v i 1 mat dogn d nhanh d i i NST so 19), 1 t r u d n g h y p 47,XXY va 1 t r u d n g h y p 47,XYY.
Dubey S. va cOng s y (2005) [2] nghien eu'u NST d 742 cap v a ehong (1484 trudng hyp) eo t i l n s u say thai lien t i l p da phat hiOn dup'c 31 cap (vy hogc chong) (ty 10 4,18%) cd rOi logn NST, trong dd 22 t r u d n g hp'p ( l y Ip 71%) rdi logn ve c l u true bao gdm 15 c h u y i n dogn tuang hd, 4 chuyen dogn hda h y p t i m , 2 du'l dogn ( n h i n h ngan NST so 3 v i so 10) v i 1 dao dogn NST so 4. 9 t r u d n g h y p (ty 10 29%) roi logn v l sO l u y n g lien quan den c§p NST gid"! linh bao gom bao gom 3. (45,X/46,XX), 3: (46,XX/47,XXX),V (46,XYy47,XXY) va 2:
(45,X/46,XX/47,XXX) . Nhin chung c i c t i c gia da kel lugn r i n g : xet nghipm NST l i can thiet va ddng vai trd quan trpng de tim hieu nguyen nhan va t u v i n v i nguy c a sinh san ddi vdi cap v a chdng cd tien s u say thai lien t i l p v i sinh con bj dj tgt bam sinh. T r u d n g h y p nhu'ng cap v y chong mang rdi logn NST can b i n g thi nguy ca sinh ra nhu'ng d u a tre cdn song mang roi loan NST khdng can b i n g khoang t u 1 % den 15%.
Tuy nhien nguy c a chinh xac edn phy thuOc vao kich t h u d c doan bj dirt, gen chua trong dogn bj dut do va cdn tuy thupc vao n g u d i chong hoac ngudi v y mang roi loan NST [7,8].
K i t qua nghien c u u nay khi phan tich NST d 350 cgp v y chdng say thai lien tiep va sinh con bj dj tat bam sinh cho t h i y 24 cgp v y chong (gap d n g u d i vp- hoac d n g u d i chong) cd roi ioan NST (ty le 6,86%) trong do 21 trudng h a p rdi loan v l e i u true va chiem p h i n Idn (19 t r u d n g h y p ) mang NST ehuyen dogn, 1 t r u d n g h a p m i t dogn nhanh d i i NST s6 18 va 1 t r u d n g h y p dao dogn quanh tam NST so 9 (bang 1). 3 t r u d n g h y p roi logn so l u y n g the kham d cap NST gidi tinh v d i karyotyp la:
47,XXX[4]/46.XX[96]; 47,XXY[5]/46,XY[95] va 45.X[5]/46,XX[95]. Tong so 24 cap v y chong CO bieu hipn roi logn NST deu c6 lien s u say thai It n h i t la 2 lan hogc sinh con bi dj tgt b i m sinh. Vi vgy d nh&ng cap v a chong nay thi c i n phai xet nghiem NST v i dua ra nhu'ng nguy c a khi cd thai d lan sau. Mgt khac c i n phat theo ddi, tham k h i m ve san khoa va lam c i e xet nghiOm t u mau m? va thai d l gdp p h i n c h i n doan I r u d c khi sinh,
v. K^T LUAN
T6ng so 350 cap v p chong say thai lien liep v i sinh con bj di tgt bam sinh:
24 cOp v y chong ( v y hogc chong) cd bieu hiOn roi logn NST (ty le 6,86%) bao gom- 21 cgp cd roi loan v i cau true (ty 10 87,5%) va 3 cgp cd roi logn v l sd l u y n g (ty Ip 12,5%):
- 21 t r u d n g h y p roi logn ve cau true: 19 la chuyen dogn NST (11 chuyen dogn t u a n g hd; v i 8 cap ehuyen dogn hda h y p tam); 1 d u t dogn nhanh dai NST sd 18 va 1 dao dogn quanh tam NST so 9
- 3 t r u d n g h y p roi logn veso l u y n g , karyotyp la 45.X[5]/46,XX[95], 47,XXX[4]/46,XX[961 v i 47,XXY[5]/46,XY[95].
Cac cgp v y chdng n i y can phai xet nghiem NST va t u v i n ve nguy c a sinh san.
TAI LIEU THAN! K H A O 1. A z i m M. et al (2003). Chromosomal abnormalities as a cause of recurrent abortions: a Hospital Experience. J. Pak. Med.
Assoc. 53(3): 1 1 7 - 2 2 1
2. D u b e y S. et al (2005). Cytogenetic causes for recurrent spontaneous abortions- An experience of 742 couples (1484 cases). Indian joumal of Human Genetics 11 (2): 94 - 98
3. H u n g e r f o r D.A. (1965). Leukocytes cultured from small inocula of vt/hole blood and
TCNCYH Phg trUdng 80 (SB) - 2012
the preparation of metaphase chromosome by spontaneous abortipn. TMJ, 7(2-3):117 treatment with hypotonic KCI. Stain technol, ^ ^^^^^ 1^ ^^ ^1 (2010). Cytogenetic ' " ' • ^ ^ ^ abnormalities in 1162 couples with recurrent 4. Seabright M. (1971). A rapid banding miscarriages in Southern region of India: repprt technique for human chromosomes The a„<j ra^„e„, journal of Assisted Reproduction Lancet 2 971.
5. Shaffer L.G et al (2009). ISCN : An Internatinonal System for Human Cytogenetic
and Genetics. 28(2). 146 - 149
8. Zarlna A. L. et al (2006). Unbalanced Nomenclature. S. Karger, Basel. chromosomal translocation A cause of
„ „ . ,- . , , „ „ „ - . . r. I I recurrent spontaneous abortion. Med. J.
6. Simona F. et al (2007). Role of "^
chromosomal translocations in recurrent Malaysia, 61(2): 260 - 262 Summary
CHROMOSOMAL ANALYSIS IN 350 COUPLES WITH RECURRENT SPONTANEOUS ABORTIONS AND CONGENITAL MALFORMATION OFFSPRING
Balanced chromosomal aberration in either parent is an important cause of recurrent pregnancy loss particularly in the first trimester. Our study was conducted to detect chromosomal aberrations in the couples with repeated aborations and congenital malformation offspring and present a productive risks for these couples. The results indicated that 24 couples (wife or husband) (6.86%) had balanced chromosomal aberrations: 21 couples showed structural aberrations include: 19 chromosomal translocations (11 reciprocal translocations and 8 Roberlsonian translocations); 1 deletion of long arm of chromosome 18 and 1 pericentric invertion of chromosome 9. 3 couples carried numencal aberrations, karyotypes were: 4S.XXIS1/45,XX[95]: 47.XXX[4]/46,XX[96] and 47,XXYI5y46,XY[9S].
Keywords: Chromosomal aberration, spontaneous abortion
ANH HudNG COA MUC DO HdA Hyp HLA LEN CHUC NANG THAN GHEP SAU GHEP 18 THANG
Ha Phan Hal An', Nguyen Mgnh Tuo'ng^, Trin Minh TuIn', Nguyen Thj Thuy' IDTnftmg Bai hQC Y Ha Nfi, (2) B^nh vi$n HOv nghi W#( BiK
Cac ket qui ghep th$n gan day nh$n thiy vai trd cua hda hop khdng nguy&n Ht.A chi anh huvng It din ket qui ghip th$n, d$c bi$t la tu giai doan cd si> dung Cyclosporin. Nghi&n c(nj nhim dinh gii tinh trang chOc nSng th$n sau ghip IB thing d nhOng b^nh nhin dupe ghip thin tit nguxH cho s6ng hoic chit nio CO miK do hda hvp HLA khic nhau. Kit qui sau ghip 6 thing, 12 thing. IB thing cho Ihiy Creatinin
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