The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes

Prenatal Diagnosis

Volumn 31, Issue 8, 2011, Pages 778-787

  Shaffer, Lisa G ^a   Coppinger, Justine ^a   Morton, S Annie ^a   Alliman, Sarah ^a   Burleson, Jessica ^a   Traylor, Ryan ^a   Walker, Cathryn ^a   Byerly, Steve ^a   Lamb, Allen N ^a   Schultz, Roger ^a   Ravnan, J Britt ^a   Kashork, Catherine D ^a   Torchia, Beth S ^a   Sulpizio, Scott ^a   Sundin, Kyle ^a   Schermer, Mack ^b   Adler, Karl ^b   Dallaire, Stephanie ^b   Ballif, Blake C ^a  

^a PerkinElmer   (United States)

^b PERKINELMER INC   (United States)

Author keywords

Aneuploidy; BACs on Beads; Maternal cell contamination; Microdeletion syndromes; Microdeletions; Mosaicism; Prenatal testing

Indexed keywords

DNA;

ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; KARYOTYPE 69 XXX; KARYOTYPING; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MICRODELETION SYNDROME; MONOSOMY; MOSAICISM; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; TRIPLOIDY; TRISOMY; ULTRASOUND; X CHROMOSOME; Y CHROMOSOME;

ANEUPLOIDY; CHROMOSOME DISORDERS; FEMALE; HUMANS; MICROARRAY ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 79960556461     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2766     Document Type: Article

References (26)

1. ACOG. 2007. ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 109: 217-227.
2. ACOG. 2009. ACOG Committee Opinion No. 446: Array Comparative Genomic Hybridization in Prenatal Diagnosis. Obstet Gynecol 114: 1161-1163.
3. Ballif BC, Kashork CD, Saleki R, et al. 2006a. Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization. Prenat Diagn 26: 333-339.
4. Ballif BC, Rorem EA, Sundin K, et al. 2006b. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 140: 2757-2767.
5. Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. 2009. 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 29: 1156-1166.
6. Deshpande M, Harper J, Holloway M, Palmer R, Wang R. 2010. Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers 14: 421-424.
7. Dunbar SA. 2006. Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection. Clin Chim Acta 363: 71-82.
8. Dunbar SA, Jacobson JW. 2005. Rapid screening for 31 mutations and polymorphisms in the cystic fibrosis transmembrane conductance regulator gene by Lminex xMAP suspension array. Methods Mol Med 114: 147-171.
9. Faas BH, van der Burgt I, Kooper AJ, et al. 2010. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet 47: 586-594.
10. Hathaway F, Burns E, Ostrer H. 2009. Consumers' desire towards current and prospective reproductive genetic testing. J Genet Couns 18: 137-146.
11. Kleeman L, Bianchi D, Shaffer LG, et al. 2009. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 29: 1213-1217.
12. Klinger K, Landes G, Shook D, et al. 1992. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51: 55-65.
13. Le Caignec C, Boceno M, Saugier-Veber P, et al. 2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 42: 121-128.
14. Lumley MA, Zamerowski ST, Jackson L, Dukes K, Sullivan L. 2006. Psychosocial correlates of pregnant women's attitudes toward prenatal maternal serum screening and invasive diagnostic testing: beyond traditional risk status. Genet Test 10: 131-138.
15. Miller DT, Adam MP, Aradhya S, et al. 2010. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764.
16. Milunsky A, Milunsky JM (eds). 2010. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (6th edn). Wiley-Blackwell: Oxford, UK.
17. Neill NJ, Torchia BS, Bejjani BA, Shaffer LG, Ballif BC. 2010. Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH. Mol Cytogenet 3: 11-11.
18. Rickman L, Fiegler H, Shaw-Smith C, et al. 2006. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 43: 353-361.
19. Sahoo T, Cheung SW, Ward P, et al. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 8: 719-727.
20. Shaffer LG, Coppinger J, Alliman S, et al. 2008. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 28: 789-795.
21. Sharp AJ. 2009. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 30: 135-144.
22. Telenius H, Carter NP, Bebb CE, Nordenskjöld M, Ponder BA, Tunnacliffe A. 1992. Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13: 718-725.
23. Tyreman M, Abbott KM, Willatt LR, et al. 2009. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 46: 531-541.
24. Valduga M, Philippe C, Bach Segura P, et al. 2010. A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations. Prenat Diagn 30: 333-341.
25. Van den Veyver IB, Patel A, Shaw CA, et al. 2009. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 29: 29-39.
26. Vialard F, Molina Gomes D, Leroy B, et al. 2009. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 25: 277-284.