172 2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 () 131821X 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 100730China 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 211813X 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 2009 36:172-177) (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% 24 50 2 30 10% 2000 315 DNA DNA 80.6% 3 280 84% 94% 2002 131821X Y 5 95%~98% [3] :100730
2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 173 0.03%~1.4% 24 20 mg 20 ml 2~4 mg 2~4 ml : 7.4% ; 0.003% DNA 1 Vysis 21 7 1 13 (13q14) 440 kb 180 kb RB1 RB1 retinoblastoma 13 RB1 [4] 1318 21X Y Weremowicz 911 2 5 18 ( Vysis D18Z1 1 82%(69.4%~87.8%);Pergament 1 96% D18Z1 α DNA ) 3 21 30~33 3 [2] 4 500 92.6% ; 1 Oncor 100%; 100% 99.9% Tepperberg [4] 25 5 348 99.6% 99.98% 99.8% 21 99.96% Caine [5] 24 742 1 109 ) 99.54% 99.97% Liehr 2 1 99.54% 99.97%; 45 X[2]/46 XX[78] 98.05% 100% LSI 13(13q14) GTG- 100% 99.24% [6] 4 500 13 ; 1 2 (2 Vysis LSI21 D21S55 ) 1 21 ( 13 13 13q14-q21 ; 1 35 X 15%~30% 0123 4 5 GTG- [5] XY X
174 2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 X 112 17 (NT) ( 11~14 ) [10] (heteromorphism) α 1999 3 150 (46%) (40%) (14%) 20.3% Y α DNA ( 11~13 ) 45X Y [7] 45X 11~13 131821X Y 16~20 65%~80% 2000 Pergament 2 336 Caine [5] 119 528 23 077 29 1 85.7% 33% 199 1 34%; 100 ; 1 30% 25 1 22% 43% ; 40 1 ; CVS 1 45% 6 1 89% Leung [8] 60% 43 1 5 ( NT 35 ) 82% 58%; 3% 11% Leclercq [11] 6 2 777 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 ;
2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 175 1.4% 99.96% 99.97% 0.003% 0.5% 0.024% Vysis FDA [4] CVS (maternal cell contamination MCC) 1 1 0.9 2 0.9 0.9=0.813 0.9 0.9 0.9=0.729 20% (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 8 16 3 45X :1 Y 1 X 1 46Xder(Yp) Y ;2 21 1 [14] 13/21 22 1 21 14 FDA 96.9% 99.96% 5 Mb 30 98.9% 99.9% 0.044% XY 94% [14] 0.088% FDA Vysis 99.75% 99.99%
176 2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 [15] 6 19 517 1993 (American College of 40% Medical Genetics ACMG) 131821X Y (German Society of Human Genetics GSHG) 1998 Ogilvie [17] ACMG 2000 ; UKNSC 3 2 : ; ; [16] 20 1 2003 (UK National Screening Committee UKNSC) (UK National Health Service NHS) 2004 UKNSC 70% 2 2118 13 PCR 21 18 13 Caine [5] 5 UKNSC ; [8] PCR GSHG 6 3 280 0.1% Leung [8] (1318 21) [20] :1 5%~15% 51 2118 13 ; 70% Caine 95% 6% ; 5% : ; ; UKNSC [17-18] Ogilvie [19]
2009 6 36 3 J Int Obstet GynecolJune 2009Vol. 36No.3 177 ; 2003 3 70% 3 1 Breuning MH. From chromosomes to DNA a revolution in prenatal 95% diagnosis[j]. Eur J Hum Genet 2005 13(5):517-522. 2 Shaffer LG Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis [J]. Am J Med Genet C 20 Semin Med Genet 2007 145C(1):87-98. 3 Leung WC Lau ET Lao T et al. Rapid aneuploidy screening 16 ( or QF-PCR): the changing scene in prenatal diagnosis? [J]. Expert Rev Mol Diagn 2004 4(3):333-337. MSS AMA 4 Tepperberg J Pettenati MJ Rao PN et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (): 2-years multicenter retrospective study and review of the literature [J]. Prenat Diagn 2001 21(4):293-301. 5 Caine A Maltby AE Parkin CA et al. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13 18 and 21 by or PCR without a full karotype: a cytogenetic risk ( 46%) ( assessment[j]. Lancet 2005 366(9480): 123-128. 31%) 6 Wyandt HE Tonk VS Huand XL et al. Correlation for abnormal rapid and chromosome results from amniocytes for prenatal diagnosis[j]. Fetal Diagn Ther 2006 21(2): 235-240. 7 Wilmink FA Van Opstal D Papatsonis DNM et al. False positive diagnosis of monosomy X in uncultured amniotic fluid cells due to a chromosome Y deletion[j]. Prent Diagn 2008 28(9): 871-873. 8 Leung WC Lau ET Lau WL et al. Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed who should decide? 4.2% ( [J].Hong Kong Med J 2008 14(1): 6-13. 9 Evans M Sharp M Tepperberg J et al. Automated microscopy of ) 0.3% amniotic fluid cells: detection of signals using the Fast imaging system[j]. Fetal Diagn Ther 2006 21(6): 523-527. 10 Leung WC Waters JJ Chitty L. Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocentses [J]. Prenat Diagn 2004 24(10): 790-795. 11 Leclercq S Lebbar A Grange G et al. Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of com- aneuploids[j]. Prenat Diagn 2008 28(4):313-318. mon 12 Locatelli A Mariani S Ciriello E et al. Role of on uncultured amniocytes for the diagnosis of aneuploidies in the presence of fetal anomalies[j]. Fetal Diagn Ther 2005 20(1):1-4. 13 Liehr T Ziegler M. Rapid prenatal diagnostics in the interphase nucleus: procedure and cut -off rates [J]. J Histochem Cytochem 2005 53(3):289-291. 1 14 Goumy C Bonnet MN Cherasse Y et al. Chorionic villus sampling (CVS) and fluorescence in situ hybridization () for a rapid first-trimester prenatal diagnosis [J]. Prenat Diagn 2004 24 (4): :1 249-256. 15 Agnieszka S Slezak R Pesz K et al. Prenatal diagnosis -principles 5 Mb 2 of diagnositic procedures and genetic counseling [J]. Folia Histochem Cytobiol 2007 45(Suppl 1): S11-16. 16 Wray AM Landy HJ Meck JM. Patient decisions regarding prenatal aneuploid fluorescence in situ hybridization results [J]. Int J Gynaecol Obstet 2007 96(2):103-107. 17 Ogilvie CM Flinter F. Prenatal diagnosis [J]. Lancet 2005 366 (9492):1159-1160. 18 Huang B Solomon S Thangavelu M et al. Supernumerary marker chromosomes detected in 100000 prenatal diagnoses: molecular cytogenetic studies and clinical significance [J]. Prenat Diagn 2006 26(12):1142-1150. 19 Ogilvie CM Lashwood A Chitty L et al. The future of prenatal 131821X Y 5 diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down s syndrome testing[j]. BJOG 2005 112(10): 1369-1375. 20 Leung WC Lao TT. Rapid aneuploidy testing traditional karyotyping or both?[j].lancet 2005 366(9480): 97-98. ( :2009-03-01)