Y HOC VI^T NAM THANG 6 - SO 2/2013 Chung tdi chi djnh dieu trj bao ton khdng mo
cho 24 tru'dng hdp, chu yeu la tren 15 tudi 22/24 (91,7%), trong dd cd 6 tru'dng hdp (25%) thay cd tdn thu'dng dng tuy tren chup cSt Idp; 5 0 % co thu'dng ton ket hdp vdi cac tang dac trong^d bung (bang 2), chii yeu vdi gan. Qua trinh dieu tri bao ton phai chuye'n mo 5 tru'dng hdp (20,8%) trong do cd 2 dp I I , 2 dp I I I va 1 dd IV;
3/5 tru'dng hdp (60%) cd thu'dng tdn phdi hdp nhu'ng chi djnh md deu do tdn thu'dng d tuy.
Ket qua dieu trj bao ton khdng md, tdt: khdi ra vien 19/35 tru'dng hdp (79,2%); xau: bien chu'ng phai chi dinh mo 5 tru'dng hdp (20,8%);
thdi gian nam vien trung binh vdi nhdm bao ton la 6 ngay, vdi nhdm chuye'n mo la 23 ngay;
khdng cd bien chdng hinh thanh nang gia tuy va t d v o n g trong nghien ciru.
V. KET LUAN:
Dieu tri bao ton khong md trong chan thu'dng tyy cho ket qua tot, khdi ra vien 79,2%
sd tru'dng hdp, thdi gian nam vien trung binh ngan (6 ngay), khdng cd bien chu'ng va t d vong.
Vdi 5 tru'dng hdp (20,8%) phai chuye'n mo trong qua trinh dieu tri bao ton, thdi gian nam vien trung binh keo dai (23 ngay), 1 tru'dng hdp bien chirng chay mau phai md lai nhu'ng khdng cd t d vong sau md.
Ldi cam d n : nhdm nghien cdu xin chan thanh cam dn Khoa phau thuat cap cdu bung
benh vien Viet Ddc da giup d d trong qua trinh nghlSn cu'u va thu'c hien de tai.
TAI LIEU T H A M K H A O :
1. Stawicki SP (2007). Trends in nonoperative management of traumatic injuries: A synopsis.
OPUS 12 Scientlst;l (l):19-35.
2. Demetriades D, Velmahos G (2003).
Technology-driven triage of abdominal b-auma: The emerging era of nonoperative management Annu Rev Med; 54: 1-15.
3. Duchesne JC, Schmieg R, Islam S, Olivier j , McSwain N (2008). Selective nonoperatve management of low-grade blunt pancreatic injuiy:
are we there yet^. J Trauma. Jul; 65 (l):49-53.
-r. Trjnh Van Tuan, Nguyen Oijrc Tien (2012).
Nghien ciru chan doan va dieu tn chan thu'dng tyy tai benh vien Viet Ddc t d 2006 - 2008, Tap chlY hpc Viet Nam, 393, (2): 20-24.
5 BJaauur I, Winkelhorst IT, Rieu PN et all (2008). Pancreabc injury in children: good outcome of nonoperative treatment. J Pediatr Surg. Sep; ^3 (9): 1640-3
6. Haugaard MV, Penninga L, Gluud C, Wettergren A (2012). Non-operative versus operative treatment for grade I I I to V blunt pancreatic trauma in children (Protocol). The Cochrane Library 2012, Issue 4, 1-10.
7. Wood 3H, Partrick DA, Bruny JL, Sauaia A, Moulton SL (2010). Operative vs nonoperative managemnent of blunt pancreatic trauma in children. J Pediatr Surg. 2010 Feb;45 (2):401-6.
CHAN DOAN THAI MANG NHIEM SAC THE CHUYEN DOAN HOA HOP TAM
TOM T A T :
Chuyen doan hda nhap tam la chuyen doan xay ra d cac nhiem sac the tam dau, ngu'di mang chuyen doan hoa nhap tam thu'dng cd kieu hinh binh thu'dng, tuy nhien hp cd the sinh ra nhutig dira tre bat thUdng. Viec phat hien ra nhOtig thai mang nhiem sac the chuye'n doan nay cd y nghia cho chan doan va td van di truyen.
Myc tieu 1. Oanh gia gia tri cua cac test sang loc trudc sinh trcing viec phat hien cac thai mang NST chuye'n doan hoa hdp tam 2. Tim hieu mdi lien quan giiJa thai mang NST chuyen doan hda nhap tam vdi karyotype cua bd me, DOI tu'dng: 11 thai cd mang nhiem sac the chuyen ' Dgi hQC Y Ha NQI
Phan bi^n khoa hpc: PGS.TS Phan Thj Hoan 18
Hoang Thj Ngoc Lan*
doan hda nhap tam bong tdng sd 4014 thai lam xet nghiem nhiem s3c the. Ket qua: Cd 7/11 thai mang NST chuyen doan hda nhap tam loai 45 NST (cd 1/7 thai mang them 1 chuyen doan tu'dng ho khac). 4 thai mang nhiem sac the chuyen doan hda nhap tam loal 46 nhiem s k the. Cac thai mang NST chuye'n doan hoa nhap tam 45 NST (chuye'n doan can bSng) du'dc chan doan tniiic sinh chii yeu dyS vao tien su" va sang loc HTN nguy cd cao cho HC Down. Cac thai mang NST cjiuyen doan hoa nhap tam 46 NST (chuye'n doan khong can bSng) duW chan doan trudc sinh chu yeu di/a vao sieu am hinh thai thai.Cd 8/11 (72,72%) thai mang NST chuye'n doan co nguon gdc t d bd hoac me. Ket luan: TTiai mang chuyei
Y HQC VIET NAM THANG 6 - SO 2/2013 doan hda nhap tam (45 NST) dygc phat hien chii yeu
du^ vao sang loc d huyet thanh me va tien sir thai san, thai mang chuyen doan hda nhap tSm loai 46 NST dUdc phat hien chii y a i du^ vao ben sir va sieu am thai. CSn phan tich NST cua hid me khi cd con mang NST bat thydng j a u tnic noi chung va mang NST chuyen doan ndi rieng dedu^ ra h/van phii hdp, chfnh xac.
Tdkhoa: nhiim sSc die, chuyen doan hoa nhap tam, sang loc, chan doan.
SUMMARY:
PRENATAL DIAGNOSIS OF FETAL CHROMOSOMAL ROBERTSON!AN TRANSLOCATIONS Robertsonian translocatons is a stnjcture mutation of chromosome, chnDmosome producted includes the complete long airni chromatin of the two fusing chnsmosomes, althought ot lacks at least some of the short arm chnamatin, whom carr/ the chromosome robertsonian translocations is usually normal, but may be unusual for the next generation, so the eariy detecbon of fetuses with chromosome robertsonian translocabons will help genetic counseling in order to give birth to healthy children. Objectives: To assess the value of prenatal screening tests for the detection of fetal chromosome robertsonian translocations; explore the relationship between chromosomal abnormalities of fetuses with their parents. Subjects: 11 fetuses with chromosome robertsonian translocations of 4014 fetuses were analyzed chromosomes from 2006 to 2012. Results: In the 7/11 robertsonian translocations chromosome fetuses with karyotype were 45 chromosomes (1/7 fetueses bnngs a redpnxal translocation and robertsonian translocation). 4 fetuses with karyotpe were 46 chromosomes. Ttie fetuses chromosome rotiertsonian translocations with karyotype 45 chromosomes (balanced stmctural rearrangements) were diagnosed mainly based on hi^ory and matemal serum saeening for Down syndrome In high- risk groups. The fetuses with dinamosomal robertsonian translocation, karyotype 46 chromosomes (balanced structural rearrangements) were diagnosed based on history and ultrasound. There are
8/11 (72.72%) fetuses with chromosome robertsonian translocations derived from a parent. Analysis parents chromosomes should be required when the fetuses brought abnormal sfructures chromosomes.
Key word: chromosome robertsonian transiocatic^s, screening, diagnosis.
I. O A T V A N DE:
Chuyen doan hda nhap tam la chuyen doan xay ra d cac nhiem sac the tam dau, ngu'di mang chuye'n doan hda nhap tam thu'dng cd kieu hinh binh thu'dng, tuy nhien hp cd the sinh ra nhij'ng dda tre bat thu'dng. Viec phat hien ra nhu'ng thai mang nhiem sac the chuyen doan nay cd y nghTa cho chan doan va tu" van di truyen cho the he hien tai cung nhu' nhu'ng the he tiep sau do. Vi vay, chiing tdi ben hanh thy'c hien de tai vdi myc tieu: 1. Oanh gia gia trj cua cac test sang Ipc tru'dc sinh trong viec phat hien cac thai mang NST chuyen doan hda hdp tam; 2. Tim hieu mdi lien quan giu'a thai mang NST chuye'n doan hda nhap tam vdi karyotype cua bd me.
It. o d l n / d N G VA PHUONG PHAP NGHIEN ClAj:
2 . 1 . €)61 tu'dng nghien cu'u; La 11 thai phu cd thai bat thudng NST dang chuye'n doan hda hdp tam trong tdng so 41 thai cd bat thu'dng cau Ijuc NST ndi chung du'dc phat hien td 4014 thai phu mang thai du'dc xet nghiem NST t d te bao dl do cd nguy cd cao sinh con bat thu'dng.
2.2. Phu'dng phap nghien cii'u:
Nghien cdu hoi cdu md ta. Cac thai phu du'dc choc dl tai Trung tam chan doan tru'dc sinh Benh vien Phy San Trung L/dng va Benh vien Phy san Ha Ndi. Nudi ciiy va phan tfch NST te bao di du'dc thy'c hien tai Bd mdn Bp mdn Y Sinh hgc - Di truyen Tru'dng Oai hoc Y Ha Ndi t d nam 2006- 2012.
III. KET Q u A NGHIEN CCrU:
3 . 1 . Cac dang chuyen doan hoa nhap t a m d thai Bang 1. Phan loai cac dang chuyen doan hda nhap tam.
Cac dang BTCT CD hoa nhap tam (45NST)
CO hoa nhap tam {46NST) CD ti/Ong ho kep
Ket qua phan tich NST thai 45,XX(XY),t(13q;14q)
45,XY,t{14q;21q) 45,XY,t(15q;21q) 45,XX,t(21q;22q) 46,XY,t(13q;13a) 46,XY,t(14q;21a) 46,XX(XY),t(21q;21q) 45,XY,t(lq;17q)(q24:q251,t(13q:21q) Tonq
n 3 1 1 1 1 1 2 1 11
•/o
06 = 54,55%
04 = 36,36%
9,09%
100,0%
Y Hpc VI$T HAM T H A N G 6 - SO 2/2013
Nhan xet: - Chuyen doan hda nhap tam m^ karyotype cd 45 NST chiem 54,55%
- Chuyen doan hda nhap tam ma karyotype cd 46 NST chiem 36,36%
- Ngoai ra cd 1/11 (9,09%) tru'dng hdp chuye'n doan kep karyotype cung cd 45 NST.
3 . 2 . Ooi Chieu k e t qud phSn tich NST thai v6i cdc phu'dng phdp sang loc
Bang 2. Ket oua phan ti'ch NST thai mang NST chuyen doan hda nhap tam vdi ket qua sang Ipc Cac dang
BTCT NST
CD hoa nhap tam (45 NST)
CD kep
CD hda nhap tam 46 NST
XN sang Ipc Karyotype thai 45,)CX,t(13q;14q) 45,XY,t(13q;14q) 45,XY,t(13q:14q) 45,XY,t(14q;21q) 45,XY,t(15q;21q) 45,XY(21q;22q) 45,XY,t(l;17)(q2 4;q25),t(13q;21q 46,XY,t(13q;13q)
1
46,XY,t(14q;21q) 46,XX,t(21q;21q)
46,XY,t(21q;21q)
Tfen sufsan khoa say thai Ifan, thai
lu'u 1 lan
sinh con Down dinh chi 2 thai bat
thu'dng smh con Down
bt sinh con Down dinh chi 1 thai bat thu'dng,da slnh 1
con gai binh thu'dnq da smh 1 con gai
binh thu'dng Tuoi
me Sieu am
thai Nang ORMM
8 va 6mm
Nang DRMM 5mm
KSSG 5,7mm
TSng KSSG
_i±I_
(-)
khdng lam
khdng lam
khdng lam
(+) HTM: huyet thanh me; Nguy cd thap (-); Nguy cd cao sinh con HC Down ( + ) , binh thu'dng (bt) Nhan xet: 1/11 thai mang NST chuye'n doan hda nhap tam thuoc nhdm thai phu cd nguy cd cao thai bat thu'dng NST theo tuoi me; 7/11 thai phy cd tien sir thai san bat thu'dng (say thai, thai luli hoac smh con bat thu'dng), 5/11 thai cd hinh anh sieu am thai bat thu'dng; 7/11 thai cd ket qua sang loc d huyet thanh me thi cd 2/7 thai cd ket qua sang loc thudc nhdm nguy cd cao cho thai bat thu'dng NST trong dd cd 1 tru'dng hdp thupc nhdm thai cd karyotype 45 NST va 1 tru'dng hdp thuoc nhdm thai cd karyotype 46 NST.
3.3. Odl chieu k e t qua phan tich NST thai vdi NST ciia bo m e Bang 3. Odi chieu ket qua phan ti'ch NST thai vdi karyotype bd/me
Phan Ioai CO kep
CD hoa nhap tam 45 NST
CD hoa nhap tam 46 NST
Karyotype cua thai 45,XY,t(l;17)(q24;q25),
t(13q;21q) 45,XY,t(15q;21q) 45,XX,t(13q;14q) 4S,XY,t(13q;14q) 45,XY,t(21q;22q) 45,XY,t(13q;14q) 45,XY,t(14q;21q) 46,XY,t(14Q;21q) 46,XY,t(13q;13q) 46,XX,t(21q;21q) 46,XY,t(21q;21q)
Karyotype Bo
46,XY,tCl;17)(q24;q25) 46,XY 46,XY 45,XY,t(13q;14q) 45,XY,t(21q;22q)
46,XY 46,XY 46,XY 46,XY 46,XY Khonq lam
|i1e 45,XX,t(13q;21q) 4S,XX,t(15q;21q) 45,XX,t(13q;14q)
46,XX 46,XX 45,XX,t(13q;14q) 4S,XX,t{14q;21q) 45,XX,t(14q;21q)
46,XX 46,XX Khonq lam Nhan xet: Vdi 8/11 thai mang NST bat thu'dng cd lien quan vdi b d , me t h i ; 7 thai NST bat thu'dng cd nguon goc tii' bd hoac me, trong do 5/7 cd nguon goc tu' me mang va 2/7 cd nguon gdc t d b o .
20
Y HOC VlfiT NAM THANG 6 - S6 2/2013 - 0 1 thai chuyen doan kep do ca bo va me
mang cac NST bat thu'dng dd truyen cho thai.
- 2 thai mang chuyen doan hda hdp tam cung cap NST tu'dng dong khdng phat hien thay bat thu'dng nhu' thai d bd, me.
- 1 thai mang chuyen doan hoa hdp tam ciing cap NST 21 khdng xet nghiem bo me do gia dinh khdng chap nhan, ho da cd 1 ngu'di con gai khde manh.
IV. BAN LU^N:
Bat thu'dng cau true cua thai thu'dng la dang do bd hoac me truyen cho vi vay tuoi me khi mang thai hau nhu" khdng anh hu'dng den viec sinh ra nhiJng du'a tre mang bat thu'dng cau true NST, cd the gap ngay lan dau mang thai cung cd the gap d nhu'ng lan mang thai thir 2, 3 phy thupc vao bd me cd tao ra giao tiT mang NST bat thu'dng dd khdng. Bleu nay cung thay rd trong nghien cu'u nay vdi 11 thai mang NST bat thu'dng cau true thi 10/11 thai la cua cac thai phy dang trong dp tudi sinh de < 35 tuoi, cd 1 tru'dng hdp gap d thai phu 38 tuoi nhu'ng tru'dng hdp nay thai phy da td'ng bi say thai va thai lu'u tru'dc dd va chda cd con sdng. Thai phu nhd tuoi nhat la 20 tudi, Idn nhat la 38 tudi va do tudi trung binh la 30,63 ± 6,3 tuoi. Tudi trung binh cua cac thai phu trong nghien ciTu cua chung tdi cao hdn nghien culJ cua Phan Thj Hoan (28,5 ± 6,3 tuoi) [ 2 ] , cd le do chung tdi lay d cac ddi tu'dng du'dc chan doan tru'dc sinh.
Ngu'di mang NST chuyen doan hda nhap tam thu'dng cd kieu hinh binh thu'dng, nhu'ng nguy cd say thai cao, cd the truyen cho con cai nhu'ng NST bat thu'dng do. Trong nghien ciTu cua chung tdi cd 7/11 (63,4%) tru'dng hdp cd tien sd hoac say thai va thai chet lu'u hoac sinh con Down hay sinh con dj tat khac. Cd 8/11 (72,7%) cap bd me cua thai bat thu'dng cd mang NST bat thu'dng va truyen NST bat thu'dng dd cho cac thai nen cd the tao cho cac thai dd d dang trisomi hoac monosomi tulig phan ciia nhiem sac the nao dd va cd the gay ra nhO'ng bat thu'dng cho thai dan den thai bj chet hoac lull hoac say hoac de ra thai bat thu'dng nhu'hpi chu'ng Down.
Cd 7/11 thai cd tien s d thai san bat thu'dng, trong dd 6 tru'dng hdp chuye'n doan tu'dng ho kieu hda nhap tam 45 NST cd 4/6 (66,7%) thai phu cd tien sd san khoa nang ne (chu yeu la say thai, thai lull va sinh con dj tat). 1 tru'dng hdp chi
ddn dpc cd sang Ipc HTM nguy cd cao sinh con Dow/n, cd 3 tru'dng hdp sieu am thai bat thu'dng (tang KSSG hoac nang BRMM) nhu'ng nhu'ng bat thu'dng thai nay khdng cd chi dinh dinh chi thai vi vay vdi nhutig thai nay mang chuyen doan hda nhap tam 45 NST van du'dc tu' van tiep tuc thai nghen (neu khdng cd bat thu'dng hinh thai nang) nhu'ng nhiJng em be nay tu'dng lai se du'dc chan doan tru'dc slnh neu hp mudn cd con binh thu'dng. Nhu* vay vdi nhO'ng thai mang chuyen doan hda nhap tam nay thi hau nhu' khdng phat hien cac bat thu'dng hinh thai Idn, cac san phu mang nhO'ng thai nay du'dc chi dmh chpc hut oi kiem tra NST thai di/a vao tien s d san khoa 4/6 tru'dng hdp (say thai, thai \du hoac sinh con bat thu'dng), va du'a vao sang Ipc HTM thudc nhdm nguy cd cao 1/6 tru'dng hdp va 1/6 dy'a vao ket qua sieu am thai. Oieu nay phii hdp vi ngu'di mang chuyen doan hda nhap tam (45NST) hau nhu' khdng cd bat thu'dng hinh thai nhu'ng hp cd the cd nhu'ng van de bat thu'dng ve sinh san (say thai, thai lu'u, sinh con dj tat) do hp da cho con hp cac NST bat thu'dng nhu'ng khdng d trang thai can bang gay ra trisomi, hoac monosomi tdng phan NST nao dd va gay ra nhu'ng bat thu'dng tren. Tuy nhien khdng phai liic nao san phu den vdi chiing ta deu cd van de thai san bat thu'dng (vi cd the day la lan mang thai dau tien ciia hp hoac hp da smh nhu'ng dda con cd kieu hinh binh thu'dng) vi vay chung ta can ket hdp vdi cac yeu to khac nhu' sieu am hoac sang Ipc HTM de tranh Ipt nhOng tru'dng hdp thai bat thu'dng di truyen.
Trong nghien culi nay, dang chuyen doan hda nhap tam gap nhieu nhat la t(13;14) (30%), tiep den la chuyen doan t(21;21) va t(14;21) (20%), cac chuye'n doan khac t(13;13), t(15;21), t(21q;22q) (10%). Nghien ciTu cua chung tdi cung tu'dng tu' vdi tac gia McKinlay R. J. [6]
chuye'n doan t{13;14) la 33%, t(21;21) va t(14;21) 10-17% den 30%.
Trong nghien cdu cua chung tdi cdn bat gap mdt tru'dng hdp chuye'n doan tu'dng ho kep 45,XY,t(lq;17q)(q24;q25),t(13q;21q). Xet nghiem NST cua cap vd chong nay phat hien ngu'di bd mang NST chuye'n doan tu'dng ho 46,XY,t(lq;17q)(q24;q25) va me mang NST chuyen doan hda nhap tam 45,XX,t(13q;21q). TTiai hien tai la SLT ket hdp ciia 2 kieu chuye'n doan nay nen cd the binh thu'dng vi vay sieu am va sang Ipc HTM deu khdng cd dau hieu chi diem nhuTig san phu choc dl vi cd tien sir da cd thai luU va sinh mdt con nghi Down (bang 2).
21
Y HQC VI$T NAM T H A N G 6 • S6' 2/2013 Con 4 tru'dng hdp thai mang NST chuyen
doan hda nhap tam dang 46 NST ( d d thira nhanh dai cua 1 NST tam dau) thi cd 2/4 tru'dng hdp cd tien su' thai san bat thu'dng. cd 3 thai mSc hpi chu'ng Dowrn va 1 thai mSc hpi chu'ng trisomi 13.
Cd 2/4 thai cd tang KSSG tren sieu am thai luc 12 tuan (1 thai hpi chiTng Down va 1 thai hpi chu'ng Patau). 2 tru'dng hdp thai Down cdn lai khdng phat hien thay bat thu'dng hinh thai dieu nay cOng phu hdp vdi cac nghien culj cua Tran Danh Cu'dng, Hoang Thj Ngpc Lan, Nguyen Thi Hoang Trang mpt sd thai Down khong phat hien thay bat thu'dng hinh thai [1], [ 3 ] , [ 5 ] . Va d 2 tru'dng hdp nay thi chpc hut oi la do ket qua sang Ipc d huyet thanh me thudc nhdm nguy cd cao cho hdi chu'ng Down va 1 tru'dng hdp do tien sir sinh con Down.
Nhu' vay khi phdi ket hdp gida cac xet nghiem sang Ipc chung ta da phat hien du'dc cac bat thu'dng cau true NST dang chuye'n doan hda nhap tam (46 NST). Cd nhuYig bat thu'dng di truyen ma sieu am khdng phat hien thay bat thu'dng hinh thai, vi vay can khai thac tien sd thai san cua thai phu va gia dinh day d i i , giup chung ta cd nhuYig chi djnh phu hdp cho thai nham phat hien du'dc cac bat thu'dng di truyen ciia thai.
Phat hien 8/11 tru'dng hdp thai nhan NST bat thu'dng dd t d bd hoac me. Trong dd cd 6 tru'dng hdp chuyen doan hoa nhap tam du'dc lay tu" me va 2 tru'dng hdp lay td bo.
Theo tac gia Nguyen Van Rdc [ 4 ] , trong cac tru'dng hdp chuyen doan hda nhap tam, neu me la ngu'di mang NST chuyen doan thi kha nang tai mac 12% cao hdn rat nhieu khi bd mang NST bat thu'dng 3%, cdn trong tru'dng hdp bd me mang NST chuyen doan t(21q;21q) thi kha nang sinh mpt ngu'di con binh thu'dng la khdng the xay ra.
Stoll C. Thay rang thy'c te nguy cd di truyen cho con NST cau true bat thu'dng la 16% neu me la ngu'di mang NST chuyen doan can t)ang va du'di 8% neu la ngu'di bd mang NST chuye'n doan can bang dd [7].
McKinlay R. J. [6] thay rang neu me mang NST chuyen doan t(Dq;21q) hoac (21q;22q) thi nguy cd tai dien cho the he sau 10-15% con bi Down chuyen doan, trddng hdp bo mang NST chuyen doan thi chi khoang 1 % con bj anh hu'dng.
Nhd vay khi phat hien thai mang bat thu'dng cau true NST, can phai kiem tra NST eua bd me de xac dinh nguon gdc ciia NST bat thu'dng d thai, tir dd giup dda ra nhdng Idi tu' van phii hdp va chi'nh xac hdn. Dieu dd cung giup giam ty le sinh con dj tat bam sinh, giam ganh nang cho gia dinh va cho xa hdi.
22
V. KET LUAN:
Co 11/4014 thai CO NST dang chuyen doan hda hdp tam trong d o :
- 8/11 (72,72%) thai phu co tien sd thai san bat thu'dng.
- Vdi thai mang NST chuyen doan hda nhap tam loal 45 NST (loai can bang), tien su* thai san bat thu'dng cd vai trd rat quan trpng dong thdi phdi hdp vdi cac yeu to sang Ipc khac nho' sieu am thai, sang Ipc HTM.
- Vdi thai mang NST chuyen doan hda nhap tam loai 46 NST (loal khdng can bang) thi yeu t d tien sd thai san van ddng vai trd quan trpng tuy nhien van can phal phdi hdp vdi sieu am thai va sang Ipc HTM de phat hien cac thai bat thu'dng nay.
- Cd 8/11 (72,72%) thai mang NST chuyen doan dl truyen t i f bd hoac me. Vi vay a n chi djnh phan tieh NST eua bo me khi phat hien thai mang NST bat thu'dng cau true ndi ehung va mang NST chuye'n doan ndi rieng de d u ^ ra tu' van phii hdp, chinh xae.
Can phdi hdp cac xet nghiem sang Ipc de tranh lot sang thai mang chuye'n doan hda nhap tam, dac biet me cd tien s d thai san bat thu'dng, sinh con dj tat.
TAI L l f U T H A M KHAO:
1. Tran Danh Cu'dng (2006). "Mdt sd nhan xet ve dau hieu gdi y ciia sieu am d nhihig tru'dng hdp thai nhi CO bat thudng nhiem sac the", Hgi nghi khoa hoc chuyen de chan doan tru'dc smh, Sd Y te Ha Ndi.
2. Phan Thj Hoan (2007). "Tuoi bd me sinh con bi di tat bam smh". Hgi nghj quoc te ve di truyen - sang loc va chan doan tru'dc sinh, tr. 138-140.
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