Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis

Genetics in Medicine

Volumn 14, Issue 11, 2012, Pages 914-921

  Lamb, Allen N ^a,b   Rosenfeld, Jill A ^a   Coppinger, Justine ^a   Dodge, Erin T ^a   Dabell, Mindy Preston ^a   Torchia, Beth S ^a   Britt Ravnan, J ^a   Shaffer, Lisa G ^a   Ballif, Blake C ^a  

^a PERKINELMER INC   (United States)

^b ARUP LABORATORIES   (United States)

Author keywords

aCGH; maternal cell contamination; MCC; microarray; prenatal diagnosis

Indexed keywords

DNA; OLIGONUCLEOTIDE;

ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DATA ANALYSIS SOFTWARE; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA MICROARRAY; FEMALE; FETUS; FETUS CELL; FETUS MALFORMATION; GENE DELETION; GENE DUPLICATION; HUMAN; HUMAN CELL; HUMAN GENOME; MALE; MATERNAL BLOOD; MATERNAL CELL CONTAMINATION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRENATAL PERIOD; SENSITIVITY AND SPECIFICITY; SEX CHROMOSOME; SIMULATION;

EID: 84869066746     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.77     Document Type: Article

References (30)

1. Ledbetter DH, Zachary JM, Simpson JL, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 1992;12:317-345.
2. Ward BE, Gersen SL, Carelli MP, et al. Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4,500 specimens. Am J Hum Genet 1993;52:854-865. (Pubitemid 23313706)
3. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004;12:907-915. (Pubitemid 39462124)
4. Stojilkovic-Mikic T, Mann K, Docherty Z, Mackie Ogilvie C. Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. Prenat Diagn 2005;25:79-83. (Pubitemid 40193733)
5. Van den Veyver IB, Patel A, Shaw CA, et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009;29:29-39.
6. Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn 2009;29:1156-1166.
7. Winsor EJ, Akoury H, Chitayat D, Steele L, Stockley TL. The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis. Prenat Diagn 2010;30:746-752.
8. Schrijver I, Cherny SC, Zehnder JL. Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn 2007;9:394-400. (Pubitemid 47305075)
9. Smith GW, Graham CA, Nevin J, Nevin NC. Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites. J Med Genet 1995;32:61-64.
10. Frederickson RM, Wang HS, Surh LC. Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes. Prenat Diagn 1999;19:113-117. (Pubitemid 29112566)
11. Van Opstal D, Boter M, de Jong D, et al. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2009;17:112-121.
12. ACMG. American College of Medical Genetics: Standards and Guidelines for Clinical Genetics Laboratories. 2008. http://www. acmg.net/AM/Template.cfm? Section=Laboratory-Standards-and-Guidelines&Template=/CM/ContentDisplay. cfm&ContentID=5131. Accessed 6 March 2011.
13. CMGS. Practice Guidelines for the Testing for Maternal Cell Contamination (MCC) in Prenatal Samples for Molecular Studies. [PDF]. 2008. http://www.cmgs.org/BPGs/pdfs%20current%20bpgs/MCC-08.pdf. Accessed 16 March 2011.
14. CCMG. CCMG Molecular Genetics Guidelines. CCMG Molecular Genetics Committee: Ottawa, Canada, 2006:9.
15. Nagan N, Faulkner NE, Curtis C, Schrijver I; MCC Guidelines Working Group of the Association for Molecular Pathology Clininical Practice Committee. Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathology. J Mol Diagn 2011;13:7-11.
16. ACOG Committee Opinion No. 446. Array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 2009;114: 1161-1163.
17. Ballif BC, Rorem EA, Sundin K, et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006;140:2757-2767. (Pubitemid 44865062)
18. Cheung SW, Shaw CA, Scott DA, et al. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A 2007;143A:1679-1686. (Pubitemid 47217264)
19. Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 2010;12:85-92.
20. Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007;145C:87-98. (Pubitemid 46427657)
21. Duker AL, Ballif BC, Bawle EV, et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome. Eur J Hum Genet 2010;18:1196-1201.
22. Shaffer LG, Dabell MP, Rosenfeld JA, et al. Referral patterns for microarray testing in prenatal diagnosis. Prenat Diagn 2012;32:344-350.
23. Ballif BC, Theisen A, Coppinger J, et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 2008;1:8.
24. Ballif BC, Theisen A, McDonald-McGinn DM, et al. Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin Genet 2008;74:469-475.
25. Bejjani BA, Saleki R, Ballif BC, et al. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more? Am J Med Genet A 2005;134:259-267. (Pubitemid 40470618)
26. Lamb AN. Laboratory aspects of prenatal microarray analysis. Clin Lab Med 2011;31:615-30, ix.
27. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 2010;3:11.
28. Ballif BC, Kashork CD, Saleki R, et al. Detecting sex chromosome anomalies and common triploidies in products of conception by arraybased comparative genomic hybridization. Prenat Diagn 2006;26: 333-339.
29. Bruno DL, White SM, Ganesamoorthy D, et al. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet 2011;48:831-839.
30. Conlin LK, Thiel BD, Bonnemann CG, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet 2010;19:1263-1275.