CVv251V80PBS3D2012001.pdf

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TCNCYH Phu trifong 80 (3D) - 2012

KY THUAt P H A N U'NG CHU6l POLYMER HUYNH QUANG DINH LU'O'NG (QF - PCR) TRONG C H A N DOAN TRU'aC SINH

MOT S6 HOI CHl/NG LECH BOI NHI^M SAC TH^

Hoang Thj Ngpc L a n \ Nguyen Hoai N a m ^ TrSn Van Khdnh^

'Tru'&ng Dî hoc Y Hd NOi. ^B$nh vi$n Bach Mai Nghien cOv nhSm img dung ky thu$l QF • PCR trong chin do^n Irut/c sinh m&t s6 hî churtg l^ch hpi nhiem sSc the (NST) vd d^nh gi§ giA trj cua ky thu$t QF - PCR trong chSn do6n tru-Crc sinh m^t s6 hî chung l$ch bî NST. Kk qua da phit ht$n 28/31 cd bSt thutmg v4 s6 lux^g NST Trong dd v6i Trisomy 21: 16/31 miu. tnsomy 18 8/31, tnsomy 13- 2/31. 1/31 miu /d monosomy X C6 1 tnj'img h^p phdt tv$n dupe Tnsomy cua 4 NST (13. 18, 21, X) Cd 3/13 tnf&ng ht?p khdng phAt hi$n th4y bit Ihu^ng vS s6 hityng cdc c$p nhiim s4c th4 duxyc lai. Doi chiSu v&i kit qua karyo- fyp CO 30/31 mSu cd k4t qud phu h<yp giu-a kit quS QF • PCR vd kdt qui phin tich NST MQI truxmg hpp c6 sw khic nhau gii/a k4t quA karyotyp vd OF - PCR. kSl qui karyotyp dqc Ii XY cdn QF • PCR dgc 1^ XX Khi phdi hqfp giOa karyotype vi QF • PCR thi dupe chin doin Ii tliai cd bit thuteng vS ciu true NST X vi tliai cd hî chung Turner TLF khoa: QF- PCR, trisomy 21, 18, 13, chSn do^n tru'b'c sinh

I. OAT

V A N

Oe

Di tat bam sinh (DTBS) la mOl trong nhOng bat thu-dng hay gSp. Theo thong ke cua To chCcc Y te The gioi (WHO) di tat bam sinh chiem khoang 3 - 4 % tong so tre dLFOC sinh ra bao gom ca tre song va tre chet luc sinh [9] Theo nghien CLFU cua Phan Thi Hoan (2001) 6 nhdm dan cu- thuoc 4 tlnh dong bang S6ng H6ng cho thay ty, le DTBS chiem 1,96% dan s6 dieu tra [1] Mot s6 hpi chiFng bat thu-ong NST thu'6'ng gap nhu': hoi chu-ng Down, hpi chLFng Patau, hpi chijng Edward va m6t so hdi chCrng bat thu-ong NST gi^i nhu-, Klinefelter, Tuner Hien nay viec dieu tn cac benh di truyen c6n gap nhieu kho khan, vi vay viec chan doan som cac DTBS thoi ky phoi thai la can thiet de c6 cac bien phap XLF ly phu hop, Gan day ngu'oi ta phat hien ra cac trinh tu' lap ngan STR (short tandem repeat) c6 tinh da hinh cao o mot so locus nhat dinh tren NST s6 13, 18, 2 1 , X, Y Nho d6, khi tien hanh phan LFng nhan gen PCR nht^ng locus nay. chiing ta cd the xac dinh diFoc s6 iu-ong cac alen tren hinh anh dien di- Do bat thu'ong so lu'ong alen tu'ong LFng voi bat thu'ong cac NST nen phu'ong phap nay cd the LFng dung de chan doan cac bat thu'6'ng NST mdt each nhanh chdng va chinh xac ma khdng can phai nudi cay te bao, Ky thuat QF PCR (quantitative fluorescence - polymerase chain reaction) du'oc goi la phan LFng chudi polymer hui'nh quang djnh lu'p'ng dung de khuech dai cac STR.

Day la phLFong phap xac dinh cac bat thu'd'ng ve gen va NST hieu qua nhanh chdng hon so v6i cac phu'ong phap khac Ngoai ra, do dSc diem ve quy trinh cua phu'ong phap nay nen c6 t h i trien khai tren quy m6 Ion, vd'i so iLFong mau nhieu

Hien nay a Viet Nam, mot s6 trung tarn Ion da trien khai ap dung ky thuSt QF - PCR trong chan doan tru'd'c sinh cac benh di truyen Tuy nhien chu'a c6 de tai nao danh gia d6 chinh xac cua ky thuat nay trong chan doan tru'd'c sinh va chuan hda quy trinh de ap dung vao dieu kien Viet Nam Xuat phat tLF yeu cau dd du'oc tien hanh de tai nay vd'i muc t i e u :

', IJ'ng dung ky thuat QF - PCR trong chan doan tru'd'c sinh mot s6 hSi chCrng lech bdi NST

2, Danh gia gia tn cua ky thuat QF - PCR trong chan doan tru'd'c sinh mot so hdi chCFng lech bdi nhiem sac the

II. D 6 I TU-QNG V A PHU'aNG PHAP

1. Odi t y o n g

- 31 mau dich 6i cua nhiJng phu nu" mang thai du'oc lam xet nghiem NST tai bo mdn Y Sinh hpc Di truyen, Tru'dng Dai hpc Y Ha Noi Tien hanh lam xet nghiem QF- PCR tai Trung tam Nghien CLTU Gen va Protein - Tru'ong Dai hoc Y Ha Ndi SCF dung 1ml dich 6i / I m i u xet nghiem QF - PCR.

- Hda chat dung tach chiet DNA; Kit Qiagen, hda ch^t dung cho phan iVng QF - PCR: bd kit cua

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TCNCYH Phij tnmng 80 (3D) - 2012

hang Aneufast™, hda ch^t di^n di huynh quang, Hi-Di™ Formamide, GeneScan™-500 LIZ™ Size

Standard, Capillary 36, P 0 P 4 , Buffer.

* BO kit cua hang Aneufast^*^ g6m M 6 I gan huynh quang (g6m 29 marker cho cac NST 13, 18, 2 1 , X Y) dNTPs (dATP, dTTP, dCTP, dGTP), Taq DNA polymerase, dem thich hp'p

- DO tinh sach cua ADN d y a vao ly s6 OD =•

260/280nm Mdt dung d|ch acid nucleic du'p'c coi la sach khity s6 0 D ! a 1 , 8 - 2 , 0

'Thanh ph^n phan u-ng Multiplex PCR Mix lOpI, AND I p i , H30 4pl

- DiSn di tren may ABI 3100 Dien di map quan cho phep phan tich cac bang vach c6 s y sai khac nhau chi mOt nucleotid K^t qua se cho ta xac dinh du'oc kich thu'dc cua cac locus lu'ong ong vd'i cac alen cua mdi locus

- Ket qua thu du'p'c tir he thong dien di mao quan se du'oc phan tich bang phan mSm chuySn

B a n g 1 . C a c h d p c k4t q u a t y 1^ d i n h Ty le d i n h STR Ket qua 1,4 1 Binh thu'd'ng

Lech bdi NST 1,6- 1 doi vd'i cac

alen £ 20bp Binh thu'd'ng Chan doan ngu'd'i do bi lech bdi NST khi cd it

B a n g 2. D d i c h i e u ket qua QF -

nhcit 2 marker chan doan cho cCing 1 nhi§m sac th^

c 6 t y la 1 1:1 hoac 2 : 1 .

III. K^TQUA

1. K^t qua t a c h c h i ^ t DNA tip d j c h 6i K^t qua ki^m tra n6ng dO va dd tinh sach cua DNA Cho thay, n6ng dd DNA dao dOng tiF 2,6 - 45,9 ng/pl, dd tinh sach chu y^u tiF 1,7- 2,0 Tuy nhiSn Cd 3 mSu n6ng dd tinh sach la 1,56 va 2,3

2. K k qua cua k? t h u ^ t QF - PCR Da phat hi$n 28/31 cd b i t thu'd'ng ve s6 lu'p'ng NST Trong db' Trisomy 21 phat hien 16/31 mSu, tnsomy 18. 8/31, trisomy 13: 2/31. 1/31 m^u la monosomy X 0 6 1 tru'd'ng hp'p phat hi^n du-p-c Trisomy cua 4 NST (13, 18, 2 1 . X ) Cd 3/13 tru'd'ng hp'p khdng phat hien t h i y b i t thu'd'ng ve s6 lu'p'ng cac cap nhi^m sac th4 du'p'c lai

3. Ddi chieu vd'i ket qua phan t i c h NST tii- td bao 6i n u d i cSy

Qua bang 2 cho ta t h i y 30/31 mau cd ket qua phu hp'p giOa ket qua QF - PCR va ket qua phan tich nhiem sac the. Tuy nhi6n, cd 1 tru'd'ng hop cd s y khac nhau giCFa ket qua karyotyp va QF - PCR, ket qua karyotyp dpc la XY cdn QF - PCR dpc la XX Vd'i tru'd'ng hop nay chung toi xin du'p^ ban luan d' phan sau

PCR vd'i ket q u a d i t r u y e n te b a o Ky t h u a t QF -

Chan doan Tnsomy 21

Trisomy 18

Tnsomy 13 1 N S T X

T n s o m y 4 N S T 2 1 , 1 8 , 1 3 , X Binh thijong, XY

XX

- P C R n 16

08

02 01 01 01

02

%

51.62

25,81

6,45 3,22 3,22 3.22

6,45

Ky t h u ^ t d i t r u y i n tO b i o Chan d o i n

47,XX,+21 h o j c 47,XY.+21

47,XX,+18 hoSc47,XY,+18

47.XX,+13 hoSc47,XY,-H3

45,X 69,XXX

46,XY 46,XX 46,XY

n 16

08

02 01 01 01 01 01

%

51,62

25,81

6,45 3,22 3,22 3,22 3,22 3,22

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TCNCYH PhiJ trimng 80 (3D) - 2012

I V . B A N L U A N

Viec ap dyng ky that QF - PCR trong ch^n doan tru'd'c sinh mpt s6 hdi chCfng lech bOi NST cd th^

SLc dyng nhi^u bd kit khac nhau Tuy nhien tren thu'c te, cd hai bd kit thu'd'ng du'p'c s i i dyng hon ca, dd la bd kit cua hang Aneufast™ va Chromo- quant vi hai bp kit nay cd the dong thd'i phat hi^n nhieu nhat cac hdi chCrng lech bdi NST thu'd'ng gap Bd kit cua hang Aneufast^" da cd d i y du cac hda chat de thyc hien phan LFng QF - PCR, trong khi si> dung bO kit cua hang Chromoquant phai cho them Taq DNA polymerase, Thdi gian chgy ph^n LFng QF - PCR cua Aneufast™ la 123 phut, nhanh hon Chromoquant 48 phut Khdng chl vay. gia thanh d ^ phan tich mdt m i u bang bd kit Chromo- quant dat hon han so vd'i khi s i i dung bd kit Aneu- fast™ Do dd Chung tdi da chpn bd kit Aneufast™

de Chan doan mdt so bat thu'd'ng so iopng NST (13,18, 2 1 , X , Y ) .

Theo bang 2 k? thuat QF - PCR c h i n doan phu hpp so vd'i karyotyp 30/31 tru'd'ng hop chiem 96,77%

Nhu' vay, cd 1 benh nhan k4t qua khac nhau giD-a karyotyp va QF - PCR, Vd'i 30 tru'd'ng hp'p nay thi 28 tru'd'ng hp'p karyotype la cd b i t thu'd'ng s6 iu'png thi kk qua QF - PCR cOng phu hp'p,

D 6 I vd'i tru'd'ng hop cd s y sai khac giLKa k i t qua phan tich NST va k i t qua QPF - PCR D^u tien a tru'dng hp'p nay karyotyp thi lai tra id'i la 46,XY tuy nhien tren sieu am d- t u i n thai thLF 21 khdng thay cd tinh hoan va du'ong vat 0 6 sy khac nhau gi&a 2 ket qua, khi dd c6 the cd 2 tru'd'ng hpp xay ra la'

K i t qua sieu am sai do tinh hoan nam lac ch6 va khdng phat hidn du'p'c

Do cd s y mau thuan giOa 2 chan doan, chung tdi t i l n hanh them ky thuat QF - PCR do cd cac maker c h i n doan cho nhidm sac t h i gid'i

K i t qua QF - PCR 6'hinh 1

.i-.:J.

...L M!

Hinh 1 . K M qua QF - PCR cua m i u benh nhan karyotyp k i t luan 46,XY BO chinh xac cua QF - PCR trong c h i n d o i n b i t thu'd'ng ISch boi NST

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TCNCYH Phij truvng 80 (3D) - 2012

K i t qua QF - PCR chl ra la b^nh nhan cd 2 NST X thi thai se phat t r i l n theo hu'd'ng mdt ngu'6i nO' binh thu'd'ng K i t qua karyotyp k i t luan 46 XY thi thai se phat t r i l n theo hu'd'ng mdt ngu'd'i nam K i t qua sieu am chi ra thai nay khdng cd tinh hoan Nhu'ng khi d l i c h i l u k i t qua cua NST va k i t qua cua QF - PCR thi day la thai nO- nhu'ng cd 1 NST X da m l t doan nhanh ngan va tu'ong lai thai nay se phat t r i l n theo hiFd'ng ngu'di nu' nhu'ng la nCr vd'i hdi ChLFng Turner Vd'i tru'd'ng hp'p dac biet nay Chung tdi nhSn t h l y

Mac dii cho d i n nay k i t qua karyotyp vSn la tieu c h u l n vang d l c h i n doan cac b i t thu'd'ng v l NST nhu'ng cung khdng phai t i t ca cac tru'd'ng hp'p ddt b i l n d u true NST d i n d i n vi^c nhan d|nh khdng chinh xac v l ngudn g6c thyc s y cua NST dd thi nhu'ng x6t nghiem 6' m i j c dO phan ti> cd t h i lam sang to d i l u nay Trong tru'dng hp'p nay xdt nghiem QF - PCR da bo sung cho x6t nghi$m di truyen te bao d l cd mdt k i t luan chinh xac cho thai va de t y dd dLFa ra nhi>ng tu- v i n hop ly giup cho san phy va gia dinh c6 quyet dinh hpp ly cho thai QF - PCR cd nhieu u-u diem nhu'ng cung cd nh&ng han che nhu' trong tru'd'ng hop nay da khdng phat

hi^n du'p'c ddt b i l n m i t doan, hay khd khao sat du'p'c cOng liiic 23 cap NST ndn khdng t h i thay t h i karyotyp, Tuy nhiSn, k i t qua QF - PCR vd'i nhOng cap NST ma Chung ta quan tam da du'a ra du'p'c nhO'ng c h i n doan sd'm v l tinh trang s i lyp'ng cua cac NST dd, giOp s i n phy bd't lo l i n g S y k i t hp'p 2 ky thuat nay vd'i nhau giCip lam tang dd chinh xac cua c h i n dean

Sau khi t i l n hanh phan tich benh nhan cd k i t qua khac nhau giO'a karyotyp va QF - PCR thi benh nhan nay la ddt b i l n m I t doan chLF kh6ng phai c6 b i t thu'tJrng v l lech bdi NST Nhu' vay. chi cd 28 benh nhan cd b i t thu'dng lech bfti NST

Dd chinh xac cua ky thuat QF - PCR khi SCK dyng bd ktt Aneufast™ la 100% O i l u nay trung vd'i k i t qua bd kit Aneufast™ d u a ra vd'i dO nhay va dd

dac hieu la 100% [2].

Vd'i dd chinh xac cao cua ky thuat chung tdi nhan t h i y nen ap dung ky thuat nay vao trong thyc t l d l c h i n doan sd'm cac b i t thu'd'ng b i m sinh

So lu'p'ng marker c i n sCr dung trong chan doan cac hdi ChLFng lech bdi NST va viec so dung cac extra marker

B a n g 3. K i t qua cac n g h i e n CCPU c h i n d o a n l^ch b d i n h i l m s i c t h i b a n g ky t h u a t QF - PCR

Nghien cu'u So ca phan t i c h NST/S6 marker S d ca phat h i f n Trisomy/

s d ca T r i s o m y t h i ^ te Verna va cong su' (1998) 2139

PertI va cdng su' (1999) 247 21/4 13/2 18/3 21/2 - 4 13/2-4 18/2-4 21/4 13/4 18/4

15/15 1/1 4/5 189/189

32/32 75/75 11/11 6/6 6/6 Mann va cong su' (2001) 5090

Quaife «a cong su'(2004) 1115

Theo bang tren, trong nghi6n ciru cua Verna v i cdng SU' (1998) [7] khi khao s i t 2139 trudng hop c6 SLK dung 2 - 3 marker de chan d o i n Trisomy 21

thi p h i t hien du'oc 32/33 tri^O'ng hop Tu'ong tu' rhu' vay, PertI v i cong su' (1999) |5] khi nghien cilu 247 t r i r i n g hc?p s i l dgng 3 marker d6 c h i n

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TCNCYH PhiJ trwang 80 (3D) - 2012

doan Trisomy 18 chi phat hi^n 4/5 tru'd'ng hp'p.

Nhu' vay, n l u chi SLP dyng 2 - 3 marker v I n chu'a phat hien h i t cac tru'd'ng hp'p lech bdi n h i l m s i c t h i Mann K va cdng s y (2001) [4] nghien CLFU trSn 5090 m i u s i j dung 2 - 4 marker cho c h i n dodn trisomy 2 1 , 13, 18 da phat hi^n 100% tru'dng hp'p trisomy nay.

D i n nghien CLFU cua Umberto Nicolini va cdng SU' (2004) [8], vd'i c© m i u 22504 va su dyng QF - PCR d l c h i n doan Tnsomy 2 1 , 13, 18 thi ty le Chan doan dung la 98,6%. Nam 2004, khi khao sat 1115 tru'd'ng hp'p, Quaife su' 4 marker d l phat hidn cac lech bOi NST va k i t qua la khdng tru'd'ng hp'p nao c h i n doan sai [6]

Nghien CLFU cua chung tdi su' dyng bfi kit cua hang Aneufast^"^ cung dung 4 marker de c h i n doan cac lech bdi NST 2 1 , 18, 13 va ty !§ c h i n doan dung ma chung tdi thu du'oc cung la 100%, tu'ong t y nhu' cac nghien CLFU ndi trdn

Trudng hop trisomy 4 NST 13. 18, 2 1 , X viec chan doan lech bdi d' cac NST thu'd'ng khdng m i y khd khan, nhu'ng d l phat hi^n lech bdi tren NST

"gid'i dang XXX viec dung 5 marker la choa du vi thu'c chat chi cd 3 marker cd kha nang c h i n doan du'oc XXX la X22. DXYS218, HPRT , k i t qua chi xuat hien 2-dinh cd ty le 2 1 d- marker X22, do vay Chung tdi phai SLF dung cac extra marker de du'a ra k i t luan cuoi cung D i l u nay cung la 1 han che cua bd kit vi n l u so iLrp'ng marker gulp cho chan doan XXX la 4 marker thi se khdng phai chay them cac extra marker Ngoai ra trong tru'd'ng hp'p cd c h i n doan khac nhau giOa QF - PCR va karyctyp chung ta cung nhan thay chi cd 1 marker chan doan cho nhanh n g l n cua NST X nhu' vay la khdng du 6^ cd t h i phat hien nhong ddt b i l n mat doan Bd kit Chromoquant md'i nhat da tang so marker chan doan cho NST gidi la 6 marker tuy nhidn cung chi cd 1 marker cd the chan doan cho nhanh n g l n cua NST X- Chung tdi hi vpng trong tu'ong lai cd bd kit mdi SLF dyng 6 marker cho NST gid'i va cd 2 marker c h i n doan cho nhanh n g l n NST X

Trong b0 kit cua hang Aneufast^" ngoai cac marker thu'd'ng dung cdn cd thdm cac extra m?rker tu'ong ijng vdi tCrng NST khac nhau, Cac extra marker thu'd'ng du'p'c SLP dung trong cac tru'd'ng hop sau:

c a c marker giup c h i n doan cho cung 1 NST d i u chi cd 1 dinh duy n h i t

c a c marker giup c h i n doan cho cCing 1 NST chi cd 1 marker cd ty le b i t thu'd'ng.

Mdt s6 marker khdng cd tin hieu hoac tin hieu t h i p lam cho khdng du d i l u ki^n k i t luan

Su' dyng ky thuat QF - PCR cd mdt so u-u d i l m Cho phep rut gpn thdi gian cua mpt xdt nghiem xudng cdn khoang 5 h sau khi l l y m i u D i n g thd'i cd t h i xac dinh nhilu hdi chC^ng lien quan d i n bat thu'd'ng NST thu'd'ng gap Phu'ong phap nay khdng ddi hdi nudi cay t l bao nen khdng c I n m i u tu-oi hay vd khuan, tham chi cd the phan tich ddi vd'i cac m i u DNA da bi <3\j\ gSy nhu cac mau mau khd, DNA n l m ngoai te bao Gia thanh xdt nghiem t h I p hon phuong phap FISH dang dupe ap dyng Ngoai ra, do dgc d i l m v l quy trinh cua phu'ong phap nay nen cd the triln khai tren quy md Id'n, vd'i s6 lu'p'ng m i u nhilu ma khdng c l n nhilu nhan lye Day la mdt han che rat khd k h i c phyc cua cua phLFong phap chan doan cac hdi Chung lech bdi NST theo phuong phap di truyin t l bao truyin thdng Ben canh do ky thuat QF - PCR cd mdt s6 han che dd ta khdng phat hien duoc cac truong hop b i t thud'ng cau true nhilm s i c the, khdng phat hien du'oc t h i kham, k i t qua se bi sai lech n l u m i u djch 6i l l n t l bao mau me, khdng cung mdt luc khao sat d u o c 23 cap NST va khdng phai ca SO' y t l nao cung trang bi d u o c may PCR va may didn di mao quan

V. K^T LUAN

1, L/ng dung thanh cdng ky thuat QF - PCR trong c h i n doan lech bdi NST tai Trung tam nghien CLFU Gen - Protein, Trudng Dai Hoc Y Ha Ndi

2 Gia tri cua ky thuat QF - PCR,

Si> dung ky thuat QF - PCR cho k i t qua chan doan tuong d u o n g nhu SLF dung ky thuat di truyen t l bao v&\ dd chinh xac la 100% doi vd'i cac hdi chCFng bat thud'ng ve so luong NST phat hien du'p'c 16 m i u Tnsomy 2 1 , 8 m i u Trisomy 18, 2 m i u Tnsomy 13, 1 mau monosomy X va 1 m i u t r i s o m i 4 N S T 2 1 , 1 3 , 1 8 , X

Ciling vd'i sieu am, phan tich NST da phat hien du'p'c 1 m i u CO mat doan nhanh n g l n NST X

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TCNCYH Phij tnmng 80 (3D) -2012

TAI LIEU THAM K H A O 1. Phan Thi Hoan (2001). Nghien ci>u t i n s u i t va tinh c h i t di t r u y i n cua mdt s6 dj tat b I m sinh 6/

mdt s6 nhdm dan c u m i l n b l c Vi^t Nam, Luan an l i l n sy Y hpc, trut^ng Dai hpc Y Ha Ndi, Ha Ndi,

2. Aneufast user's m a n u a l revised July (2007). Multiplex QF-PCR kit for rapid diagnosis of tnsomi 2 1 , 13, 18 and sex chromosomes aneuploidies

3. Human R e p r o d u c t i o n Update (2004). The introduction of QF - PCR in prenatal diagnosis of fetal aneuploidies time for reconsideration, 10, 541-548

fl Mann K, Fox SP, A b b s SJ (2001). Develop- ment and implementation of a new rapid aneuploid diagnostic service within the UK National Health Service and implication for the future of prenatal diagnosis Lancet 358, 1057-1061

5. PertI B. K o p p S, Kroisel P.M et al (1999)

Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR first application on 247 chorionic villus samples, J MedGenet 36, 300 - 303.

6. Quaife R., W o n g L.F.. T a n S.Y., et al (2004). QF - PCR based prenatal detection of ane- uploidy in a southeast Asian population, Prenat Diagn24, 407-413

7. Verma L., M a c d o n a l d F., Leedham P., et al (1998). Rapid and simple DNA diagnosis of Down syndrome. Lancet 352, 9-12

8. Umberto N i c o l i n i , Faustina L a l a t t a l , Federica Natacci et al (2004). The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies time for reconsideration". Human Reproduction Update, 10(6) 541-548

9. WHO (2003). The development of registries to support birth defect research Report of a WHO Registry Meeting on Craniofacial Anomalies.

S u m m a r y

A P P L I C A T I O N O F Q F - P C R IN P R E N A T A L D I A G N O S I S F O R F E T A L A N E U P L O I D I E S

Application QF - PCR in prenatal diagnosis for fetal aneuploidies to assess the value of quantitative fluorescent polymerase chain reaction (QF - PCR) in prenatal diagnosis for fetal aneuploidies Results found 28/31 with abnormal number of chromosomes Of which, Tnsomy 21 16/31 samples, tnsomy 18 8/31. tnsomy 13: 2/31, 1/31 is monosomy X and 1/31 case detected trisomy of chromosome 13. 18, 2 1 , X (karyotype was 69,XXX) with detection rate was 100%, There were 30/31 pattern matches between the results of QF - PCR and chromosome analysis First case there was a difference between the results karyotyp and QF - PCR, karyotyp results read as XY also QF - PCR reading XX When coordination between karyotype and QF - PCR was diagnosed as pregnant with the X chromosome structure abnormalities and that was a Turner syndrome fetal Being less expensive, and almost entirely automated, more women could undergo invasive prenatal diagnosis without significant increase in health expenditure. By using QF - PCR allow rapid diagnosis of some selected chromosomal abnomalities

K e y w o r d s : QF - PCR, t n s o m y 2 1 , 1 8 , 1 3 , prenatal diagnosis