(Potential) false-negative diagnoses in chorionic villi and a review of the literature

Prenatal Diagnosis

Volumn 26, Issue 5, 2006, Pages 401-408

  Van Den Berg, Cardi ^a   Van Opstal, Diane ^a   Polak Knook, Joke ^a   Galjaard, Robert Jan ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Chorionic villi; False negative diagnoses; Long term culture; Short term culture

Indexed keywords

CHORIONIC VILLI SAMPLING; CHROMOSOME DISORDERS; FALSE NEGATIVE REACTIONS; FEMALE; FETAL DISEASES; HUMANS; KARYOTYPING; PREGNANCY;

EID: 33646772168     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1421     Document Type: Review

References (44)

1. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis. 1994. Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Prenat Diagn 14: 363-379.
2. Bartels I, Hansmann I, Holland U, Zoll B, Rauskolb R. 1989. Down syndrome at birth not detected by first-trimester chorionic villus sampling. Am J Med Genet 34: 606-607.
3. Beverstock GC, Hansson K, Helderman-van den Enden AT, et al. 1998. A near false-negative finding of mosaic trisomy 21 - a cautionary tale. Prenat Diagn 18: 742-746.
4. 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.
5. Callen DF, Korban G, Dawson G, et al. 1988. Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling. Prenat Diagn 8: 453-460.
6. Caspari D, Bartels I, Rauskolb R, Prange G, Osmers R, Eiben B. 1994. Discrepant karyotypes after second- and third-trimester combined placentacentesis/amniocentesis. Prenat Diagn 14: 569-576.
7. Crane JP, Cheung SW. 1988. An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue. Prenat Diagn 8: 119-129.
8. Eiben B, Leipoldt M, Schubbe I, Ulbrich R, Hansmann I. 1988. Partial deletion of 4p in fetal cells not present in chorionic villi. Clin Genet 33: 49-52.
9. Eichenbaum SZ, Krumins SJ, Fortune DW, Duke J. 1986. False-negative findings on chorionic villus sampling. Lancet ii: 391.
10. Hahnemann JM, Vejerslev LO. 1997. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn 17: 801-820.
11. Kennerknecht I, Kramer S, Grab D, Terinde R, Vogel W. 1993. A prospective cytogenetic study of third-trimester placentae in small-for-date but otherwise normal newborns. Prenat Diagn 13: 257-269.
12. Kennerknecht I, Barbi G, Djalali M, et al. 1991. Uncommon chromosomal mosaicism in chorionic villi. Prenat Diagn 11: 569-575.
13. 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.
14. Kennerknecht I, Barbi G, Djalali M, et al. 1998. False-negative findings in chorionic villus sampling. An experimental approach and review of the literature. Prenat Diagn 18: 1276-1282.
15. Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 12: 317-345.
16. Leschot NJ, Wolf H, Weenink GH. 1988. False-negative findings at third trimester chorionic villus sampling (C.V.S.). Clin Genet 34: 204-205.
17. Lilford RJ, Caine A, Linton G, Mason G. 1991. Short-term culture and false-negative results for Down's syndrome on chorionic villus sampling. Lancet 337: 1480-1481.
18. Linton G, Lilford RJ. 1986. False-negative finding on chorionic villus sampling. Lancet 2: 630.
19. Lippman A, Tomkins DJ, Shime J, Hamerton JL. 1992. Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report. Prenat Diagn 12: 385-408.
20. Los FJ, van den Berg C, Van Opstal D, et al. 1998. Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks. Prenat Diagn 18: 1023-1040.
21. Los FJ, van den Berg C, Wildschut HIJ, et al. 2001. The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi. Prenat Diagn 21: 1150-1158.
22. Martin AO, Elias S, Rosinsky B, Bombard AT, Simpson JL. 1986. False-negative findings on chorionic villus sampling. Lancet 2: 391-392.
23. Miny P, Hammer P, Gerlach B, et al. 1991. Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies. Prenat Diagn 11: 581-589.
24. Nisani R, Chemke J, Voss R, et al. 1989. The dilemma of chromosomal mosaicism in chorionic villus sampling-'direct' versus long-term cultures. Prenat Diagn 9: 223-226.
25. Phillips OP, Velagaleti GV, Tharapel AT, Shulman LP. 1997. Discordant direct and culture results following chorionic villus sampling and the diagnosis of a third cell line in the fetus. Prenat Diagn 17: 170-172.
26. Pindar L, Whitehouse M, Ocraft K. 1992. A rare case of a false-negative finding in both direct and culture of a chorionic villus sample. Prenat Diagn 12: 525-527.
27. Pittalis MC, Dalpra L, Torricelli F, et al. 1994. The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods. Prenat Diagn 14: 267-278.
28. Poddighe P, Becht-Noordermeer C, Mancini G, et al. 2005. A rare case of mosaic 5p deletion. Chromosome Res 13(Suppl. 1): Abstract 1.19-P25.
29. Porter S, Wilson E, Tyler X, Warren R, French-Constant C, Pearson J. 1999. A case of discordant related abnormal karyotypes from chorionic villi and amniocytes. Prenat Diagn 19: 887-890.
30. Riegel M, Schinzel A. 2005. Postzygotic isochromosome formation as a cause of false negative results from chorionic villus chromosome examination. Chromosome Res 13(Suppl. 1): Abstract 7.1-O 21.
31. Saura R, Longy M, Horovitz J, Grison O, Vergnaud A, Nelson JR. 1988. Feto-placental discrepancy on direct chromosomal preparation from chorionic villus sampling of the second trimester. Clin Genet 34: 342-343.
32. Saura R, Roux D, Maugey-Laulon B, et al. 1998. False-negative results of trisomy 21 on direct analysis on chorionic villus sampling. Prenat Diagn 18: 866-867.
33. Schlesinger C, Raabe G, Ngo T, Miller K. 1990. Discordant findings in chorionic villus direct preparation and long term culture-mosaicism in the fetus. Prenat Diagn 10: 609-612.
34. Sijmons RH, Leegte B, van Lingen RA, et al. 1993. Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, +i(5p)]. Am J Med Genet 47: 559-562.
35. Sikkema-Raddatz B, Verschuuren-Bemelmans CC, Kloosterman M, de JongB. 1997. A 46,XX,der(13;14)(qlO;qlO),+21 child born after a 45,XX,der(13;14) (q10;q10) chromosomal finding in CVS. Prenat Diagn 17: 1086-1088.
36. Simoni G, Fraccaro M, Gimelli G, Maggi F, Dagna Bricarelli F. 1987. False-positive and false-negative findings on chorionic villus sampling. Prenat Diagn 7: 671-672.
37. Smidt-Jensen S, Lind AM. 1987. A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products. Clin Genet 32: 133-136.
38. Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. 1999. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenat Diagn 19: 817-826.
39. Van den Berg C, Ramlakhan SK, Van Opstal D, Brandenburg H, Halley DJ, Los FJ. 1997. Prenatal diagnosis of trisomy 9: cytogenetic, fish, and DNA studies. Prenat Diagn 17: 933-940.
40. Van den Berg C, Van Opstal D, Brandenburg H, et al. 2000. Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi. Prenat Diagn 20: 956-969.
41. Van Opstal D, Van den Berg C. Deelen WH, et al. 1998. Prospective prenatal investigations on potential uniparental disorny in cases of confined placental trisomy. Prenat Diagn 18: 35-44.
42. Vejerslev LO, Mikkelsen M. 1989. The European collaborative study on mosaicism in chorionic villus sampling: data from 1986 to 1987. Prenat Diagn 9: 575-588.
43. Wang BT, Peng W, Cheng KT, et al. 1994. Chorionic villi sampling: laboratory experience with 4,000 consecutive cases. Am J Med Genet 53: 307-316.
44. Wirtz A, Seidel H, Brusis E, Murken J. 1988. Another false-negative finding on placental sampling. Prenat Diagn 8: 321.