Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis

Prenatal Diagnosis

Volumn 24, Issue 4, 2004, Pages 249-256

  Goumy, Carole ^a,b   Bonnet Dupeyron, Marie Noëlle ^a   Cherasse, Yoan ^a   Laurichesse, Hélène ^a   Jaffray, Jean Yves ^a   Lacroute, Gisèle ^a   Geneix, Aimé ^a   Lemery, Didier ^a   Vago, Philippe ^a  

^a UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^b ONERA   (France)

Author keywords

Chorionic villus sampling; First trimester prenatal diagnosis; FISH

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CELL CULTURE; CELL GROWTH; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ELECTIVE SURGERY; FEMALE; FETUS; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HYBRIDIZATION; HYGROMA; INDUCED ABORTION; INTERMETHOD COMPARISON; KARYOTYPING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ANEUPLOIDY; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; FEMALE; GESTATIONAL AGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LYMPHANGIOMA, CYSTIC; NECK; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC; ULTRASONOGRAPHY, PRENATAL;

EID: 1842683109     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.845     Document Type: Article

References (20)

1. American College of Medical Genetics/American Society of Human Genetics Statement. 2000. Technical and clinical assessment of fluorescence in situ hybridization: an ACMD/ASHG position statement, 1, technical considerations. Genet Med 2: 356-361.
2. Brambati B, Tului L, Cislaghi C, Alberti E. 1998. First 10000 chorionic villus samplings performed on singleton pregnancies by a single operator. Prenat Diagn 18: 255-266.
3. Brun JL, Mangione R, Gangbo F, et al. 2003. Feasibility, accuracy and safety of chorionic villus sampling: a report of 10741 cases. Prenat Diagn 23: 295-301.
4. Bryndorf T, Chrinstensen B, Vad M, et al. 1996. Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISH. Am J Hum Genet 59: 918-926.
5. Bryndorf T, Lundsteen C, Lamb A, Chrinstensen B, Philip J. 2000. Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization: a one-year clinical experience with high risk and urgent fetal and postnatal samples. Acta Obstet Gynecol Scand 79: 8-14.
6. Cotter PD, Musci TJ. 2001. Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier. Prenat Diagn 21: 171-175.
7. Eiben B, Trawicki W, Hammans W, Goebel R, Epplen JT. 1998. A prospective comparative study on fluorescence in situ hybridization (FISH) of uncultured amniocytes and standard karyotype analysis. Prenat Diagn 18: 901-906.
8. Hockstein S, Chen PX, Thangavelu M, Pergament E. 1998. Factors associated with maternal cell contamination in amniocentesis samples as evaluated by fluorescent in situ hybridisation. Obstet Gynecol 92: 551-556.
9. Jalal SM, Law ME, Carlson RO, Dewald GW. 1998. Prenatal detection of aneuploidy by directly labeled multicolored probes and interphase fluorescence in situ hybridization. Mayo Clin Proc 73: 132-137.
10. Kennerknecht I, Barbi G, Wolf M, et al. 1993. Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high- or very-low-risk pregnancies. Prenat Diagn 13: 929-944.
11. Kilby MD, Brackley KJ, Walters JJ, Morton J, Roberts E, Davison EV. 2001. First-trimester prenatal diagnosis of a familial subtelomeric translocation. Ultrasound Obstet Gynecol 17: 531-533.
12. Lewin P, Kleinfinger P, Bazin A, Mossafa H, Szpiro-Tapia S. 2000. Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27 407 prenatal diagnoses. Prenat Diagn 20: 1-6.
13. Luquet I, Mugneret F, Athis PD, et al. 2002. French multi-centric study of 2000 amniotic fluid interphase FISH analyses from high-risk pregnancies and review of the literature. Annales de Génétique 45: 77-88.
14. Pergament E, Chen PX, Thangavelu M, Fiddler M. 2000. The clinical application of interphase FISH in prenatal diagnosis. Prenat Diagn 20: 215-220.
15. Pettenati MJ, Von Kap-Herr C, Jackle B, et al. 2002. Rapid interphase analysis for prenatal diagnosis of translocation carriers using subtelomeric probes. Prenat Diagn 22: 193-197.
16. Quilter CR, Holman S, Al-Hammadi RMYA, Theodorides D, Hastings RJ, Delhanty JDA. 2001. Aneuploidy screening in direct chorionic villus samples by fluorescence in situ hybridization: the use of commercial probes in a clinical setting. Br J Obstet Gynaecol 108: 215-218.
17. Smidt-Jensen S, Christensen B, Lind AM. 1989. Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long term cultivation time. Prenat Diagn 9: 309-319.
18. Tepperberg J, Pettenati MJ, Rao PN, et al. 2001. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 21: 293-301.
19. Weremowicz S, Sandstrom DJ, Morton CC, Niedzwiecki CA, Sandstrom MM, Bieber FR. 2001. Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases. Prenat Diagn 21: 262-269.
20. Witters I, Devriendt K, Legius E, et al. 2002. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 22: 29-33.