Risk of false-positive prenatal diagnosis using interphase FISH testing: Hybridization of alpha-satellite X probe to chromosome 19

Prenatal Diagnosis

Volumn 19, Issue 9, 1999, Pages 832-836

  Winsor, Elizabeth J T ^a,d   Dyack, Sarah ^b,d   Wood Burgess, E Martha ^a   Ryan, Greg ^c,d  

^a TORONTO GENERAL HOSPITAL   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

Alpha satellite probe; Interphase FISH; Prenatal diagnosis; X chromosome

Indexed keywords

ADULT; AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CELL CULTURE; CENTROMERE; CHROMOSOME 19; DIAGNOSTIC ACCURACY; DNA PROBE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERPHASE; LABORATORY DIAGNOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; X CHROMOSOME;

ADULT; CHROMOSOMES, HUMAN, PAIR 19; DNA PROBES; DNA, SATELLITE; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; MALE; MATERNAL AGE; PREGNANCY, HIGH-RISK; PRENATAL DIAGNOSIS; RISK FACTORS; X CHROMOSOME;

EID: 0032881737     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199909)19:9<832::AID-PD653>3.0.CO;2-I     Document Type: Article

References (23)

1. Alexandrov IA, Medvedev LI, Mashkowa TD, Kisselev LL, Romanova LY, Yurov YB. 1993. Definition of a new alpha satellite suprachromosomal family characterized by monomeric organization. Nucleic Acids Res 21: 2209-2215.
2. Alexandrov IA, Mitkevich SP, Yurov YB. 1988. The phytogeny of human chromosome specific alpha satellites. Chromosoma 96: 443-453.
3. Blacanto JK. 1996. Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common aneuploidies by FISH (Letter to the Editor). Prenat Diagn 16: 769-774.
4. Bossuyt PJ, Van Tienen M-N, De Gruyter L, Smets V, Dumon J, Wauters JG. 1995. Incidence of low-fluorescence a satellite region on chromosome 21 escaping detection of aneuploidy at interphase by FISH. Cytogenet Cell Genet 68: 203-206.
5. Bryndorf T, Christensen B, Vad M, Parner J, Brocks V, Philip J. 1997. Prenatal detection of chromosome aneuploidies by fluorescence in situ hybridization: experience with 2000 uncultured amniotic fluid samples in a prospective preclinical trial. Prenat Diagn 17: 333-341.
6. Cacheux V, Tachdjian G, Druart L, Oury JF, Serero S, Blot P, Nessmann C. 1994. Evaluation of X, Y, 18, and 31/21 alpha satellite DNA probes for interphase cytogenetic analysis of uncultured amniocytes by fluorescence in situ hybridization. Prenat Diagn 14: 79-86.
7. Choo KHA. 1997. Chromatin dynamics '97. Centromere DNA dynamics: latent centromeres and neocentromere formation. Am J Hum Genet 61: 1225-1233.
8. Cooper ML, Redman JB, Mensing DE, Cheung SW. 1998. Prenatal detection of chromosome aneuploidies in uncultured amniocytes by FISH: advantages and limitations. Am J Hum Genet 63 (Suppl.): A161.
9. 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.
10. Feldman B, Ebrahim SAD, Gyi K, Hazan SL, Johnson MP, Evans MI. 1998. Routine prenatal diagnosis of aneuploidy by FISH studies in high risk pregnancies. Am J Hum Genet 63 (Suppl.): A6.
11. 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.
12. Klinger K, Landes G, Shook D, Harvey R, Lopez L, Locke P, Lerner T, Osathanondh R, Leverone B, Houseal T, Pavelka K, Dackowski W. 1992. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51: 55-65.
13. Mahtani MM, Willard HF. 1998. Physical and genetic mapping of the human X chromosome centromere: repression of recombination. Genome Res 8: 100-110.
14. Mercier S, Bresson JL. 1995. Prenatal diagnosis of chromosomal aneupliodies by fluorescence in situ hybridization on uncultured amniotic cells: experience with 630 samples. Ann Genet 38: 151-157.
15. Mizunoe T, Young SR. 1992. Low fluorescence alpha satellite region yields negative result (Letter to the Editor). Prenat Diagn 12: 549-550.
16. Robertson S, Jackle B, Cathey L, Merant L, Pittman A, Pettenati MJ. 1998. Prenatal interphase aneuploidy detection in uncultured amniocytes using fluorescence in situ hybridization (FISH). J Assoc Genet Tech 24: 151.
17. Tardy EP, Toth A. 1997. Cross-hybridization of the chromosome 13/21 alpha satellite DNA to chromosome 22 or a rare polymorphism? Prenat Diagn 17: 487-490.
18. Thangavelu M, Chen PX, Pergament E. 1998. Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22. Prenat Diagn 18: 922-925.
19. Verlinsky Y, Ginsberg N, Chmura M, Freidine M, Strom C, Kuliev A. 1995. Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by FISH. Prenat Diagn 15: 831-834.
20. Verlinsky Y, Ginsberg N, Chmura M, White M, Strom C, Kuliev A. 1998. Detection of translocations involving the Y-chromosome on prospective prenatal screening of common chromosomal aneuploidies by FISH. Prenat. Diagn 18: 390-392.
21. Verma RS, Luke S. 1992. Variations in alphoid DNA sequences escape detection of aneuploidy at interphase by FISH technique. Genomics 14: 113-116.
22. Ward BE, Gersen SL, Carelli MP, McGuire NM, Dackowski WR, Weinstein M, Sandlin C, Warren R, Klinger KW. 1993. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Am J Hum Genet 52: 854-865.
23. Weier H-UG, Gray JW. 1992. A degenerate alpha satellite probe, detecting a centromeric deletion of chromosome 21 in an apparently normal human male, shows limitations of the use of satellite DNA probes for interphase ploidy analysis. Anal Cell Pathol 4: 81-86.