(chorionic villous sampling, CVS) 5 FISH FISH Klinger (fluorescence in situ hybridization, ,FISH. Eiben, 30 (10~29 FISH)

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1 J Int Obstet GynecolJune 2009Vol. 36No.3 () X Y 5 24~48 h ; ; ; Clinical Evaluation of Fluorescence in Situ Hybridization in Rapid Prenatal Diagnosis XU Ai -qun BIAN Xu-ming. Department of Obstetrics and Gynecology of Peking Union Medical College Hospital Beijing China Abstract Fluorescence in situ hybridization () can effectively detect aneuploidy from interphase cells of amniotic fluid and chorionic villi and obtain results within 24 to 48 hours after sample receiving thus can be applied for rapid prenatal diagnosis aiming to human chromosomes X and Y. With the use of reliable commercial probes analysis has not only promoted the testing effectiveness and reliability but also reduced the false positive rate and false negative rate. But maternal cell contamination should be alerted for fear to disturb the results. Compared with karyotyping the advantage of is rapidness of obtaining results so the can earlier relieve anxiety of pregnant women. In combination with ultrasonic examination can play an important role in rapid prenatal diagnosis of one-stop style. Key words Fluorescence in situ hybridization; Prenatal diagnosis; Amniocentesis; Chorionic villus sampling (J Int Obstet Gynecol : ) (chorionic villous 65%~80% sampling CVS) 85%~95% 5 2 :1 [1-2] 1992 Klinger 30 (fluorescence in situ hybridization ) Eiben 24~48 h 30 (10~29 (rapid ) aneuploidy detection RAD) 0.44%~2.8% % DNA DNA 80.6% % 94% X Y 5 95%~98% [3] :100730

2 J Int Obstet GynecolJune 2009Vol. 36No %~1.4% mg 20 ml 2~4 mg 2~4 ml : 7.4% ; 0.003% DNA 1 Vysis (13q14) 440 kb 180 kb RB1 RB1 retinoblastoma 13 RB1 [4] X Y Weremowicz ( Vysis D18Z1 1 82%(69.4%~87.8%);Pergament 1 96% D18Z1 α DNA ) ~33 3 [2] % ; 1 Oncor 100%; 100% 99.9% Tepperberg [4] % 99.98% 99.8% % Caine [5] ) 99.54% 99.97% Liehr % 99.97%; 45 X[2]/46 XX[78] 98.05% 100% LSI 13(13q14) GTG- 100% 99.24% [6] ; 1 2 (2 Vysis LSI21 D21S55 ) 1 21 ( q14-q21 ; 1 35 X 15%~30% GTG- [5] XY X

3 J Int Obstet GynecolJune 2009Vol. 36No.3 X (NT) ( 11~14 ) [10] (heteromorphism) α (46%) (40%) (14%) 20.3% Y α DNA ( 11~13 ) 45X Y [7] 45X 11~ X Y 16~20 65%~80% 2000 Pergament Caine [5] % 33% %; 100 ; 1 30% % 43% ; 40 1 ; CVS 1 45% % Leung [8] 60% ( NT 35 ) 82% 58%; 3% 11% Leclercq [11] QF-PCR 48% MSS 35% 17% 98.4% [9] 70% 80 MSS 38 85%; AMA 80% ; MSS 65% 2005 Locatelli [12] 48 : (maternal serum screening MSS) 1:250; 100% 1 16 (advanced maternal age AMA) 35 ; 1 4p ;

4 J Int Obstet GynecolJune 2009Vol. 36No % 99.96% 99.97% 0.003% 0.5% 0.024% Vysis FDA [4] CVS (maternal cell contamination MCC) = = % (locus specific identification probeslsi) 30 (chromosome enumeration probescep) XX XY (subtelomere probes TEL) (whole chromosome probeswcp) Bryndorf α 95% DNA 2 74% ( 3 ; 18 Y ) DNA 98% XX 95% 1997 Vysis XX 18%;21 (FDA) 3 2%~74%;Kline- XX :118X Y fileter 6%~ α DNA (CEP18CEPXCEPY) 2 13q14 21q22.13~22.2 CVS (LSI 13 LSI 22) [13] Weremowicz Oncor Vysis Oncor 21 Vysis ; Vysis LSI21 CVS 14 2% FDA 2~4 ml X :1 Y 1 X 1 46Xder(Yp) Y ; [14] 13/ FDA 96.9% 99.96% 5 Mb % 99.9% 0.044% XY 94% [14] 0.088% FDA Vysis 99.75% 99.99%

5 J Int Obstet GynecolJune 2009Vol. 36No.3 [15] (American College of 40% Medical Genetics ACMG) X Y (German Society of Human Genetics GSHG) 1998 Ogilvie [17] ACMG 2000 ; UKNSC 3 2 : ; ; [16] (UK National Screening Committee UKNSC) (UK National Health Service NHS) 2004 UKNSC 70% PCR Caine [5] 5 UKNSC ; [8] PCR GSHG % Leung [8] ( ) [20] :1 5%~15% ; 70% Caine 95% 6% ; 5% : ; ; UKNSC [17-18] Ogilvie [19]

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