Microarray application in prenatal diagnosis: A position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

Ultrasound in Obstetrics and Gynecology

Volumn 39, Issue 4, 2012, Pages 384-388

  Novelli, A ^a   Grati, F R ^b   Ballarati, L ^c   Bernardini, L ^a   Bizzoco, D ^d   Camurri, L ^e   Casalone, R ^f   Cardarelli, L ^g   Cavalli, P ^h   Ciccone, R ⁱ   Clementi, M ^j   Dalpra L ^k   Gentile, M ^l   Gelli, G ^m   Grammatico, P ⁿ   Malacarne, M ^o   Nardone, A M ^p   Pecile, V ^q   Simoni, G ^b   Zuffardi, O ⁱ   Giardino, D ^c   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b TOMA Advanced Biomedical Assays SpA   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d Artemisia Fetal Maternal Medical Centre   (Italy)

^e RDI Rete Diagnostica Italiana   (Italy)

^f OSPEDALE DI CIRCOLO   (Italy)

^g Laboratorio Citotest   (Italy)

^h CREMONA HOSPITAL   (Italy)

ⁱ UNIVERSITY OF PAVIA   (Italy)

^j UNIVERSITY OF PADOVA   (Italy)

^k UNIVERSITY OF MILANO BICOCCA   (Italy)

^l DI VENERE HOSPITAL   (Italy)

^m ASL Rome   (Italy)

ⁿ SAPIENZA UNIVERSITY OF ROME   (Italy)

^o GALLIERA HOSPITAL   (Italy)

^p TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^q INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

more..

Author keywords

microarray; position statement; prenatal diagnosis; SIGU; ultrasound fetal abnormalities

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; FEMALE; GENETICS; HUMAN; ITALY; METHODOLOGY; MICROARRAY ANALYSIS; PRACTICE GUIDELINE; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME DISORDERS; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; ITALY; MICROARRAY ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84859358210     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.11092     Document Type: Review

References (45)

1. Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H,. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 2009; 11: 139-146.
2. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH,. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
3. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE,. A copy number variation morbidity map of developmental delay. Nat Genet 2011; 43: 838-846.
4. 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)
5. ACOG 2009. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 2002; 114: 1161-1163.
6. Ogilvie CM, Yaron Y, Beaudet AL,. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn 2009; 29: 11-14.
7. Friedman JM,. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 2009; 29: 20-28.
8. South ST, Lamb AN,. Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances. Expert Opin Med Diagn 2009; 3: 227-235.
9. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD,. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011; 37: 6-14.
10. Bui TH, Vetro A, Zuffardi O, Shaffer LG,. Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era? Prenat Diagn 2011; 31: 235-243.
11. Zuffardi O, Vetro A, Brady P, Vermeesch J,. Array technology in prenatal diagnosis. Semin Fetal Neonatal Med 2011; 16: 94-98.
12. Sharp AJ,. Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat 2009; 30: 135-144.
13. Henrichsen CN, Chaignat E, Reymond A,. Copy number variants, diseases and gene expression. Hum Mol Genet 2009; 8: R1-R8.
14. Stankiewicz P, Lupski JR,. Structural variation in the human genome and its role in disease. Annu Rev Med 2010; 61: 437-455.
15. Pergament E,. Controversies and challenges of array comparative genomic hybridization in prenatal genetic diagnosis. Genet Med 2007; 9: 596-599. (Pubitemid 47415268)
16. Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM,. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 2005; 42: 121-128. (Pubitemid 40204365)
17. Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM,. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006; 8: 719-727. (Pubitemid 44773699)
18. Vialard F, Molina Gomes D, Leroy B, Quarello E, Escalona A, Le Sciellour C, Serazin V, Roume J, Ville Y, de Mazancourt P, Selva J,. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 2009; 25: 277-284.
19. Bi W, Breman AM, Venable SF, Eng PA, Sahoo T, Lu XY, Patel A, Beaudet AL, Cheung SW, White LD,. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn 2008; 28: 943-949.
20. Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL,. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009; 29: 29-39.
21. Shaffer LG, Coppinger J, Alliman S, Torchia BA, Theisen A, Ballif BC, Bejjani BA,. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008; 28: 789-795.
22. 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.
23. Kleeman L, Bianchi DW, Shaffer LG, Rorem E, Cowan J, Craigo SD, Tighiouart H, Wilkins-Haug LE,. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 2009; 29: 1213-1217.
24. Tyreman M, Abbott KM, Willatt LR, Nash R, Lees C, Whittaker J, Simonic I,. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 2009; 46: 531-541.
25. Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M, Bonnet C, Nemos C, Foliguet B, Jonveaux P,. A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations. Prenat Diagn 2010; 30: 333-341.
26. Faas BH, van der Burgt I, Kooper AJ, Pfundt R, Hehir-Kwa JY, Smits AP, de Leeuw N,. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis. J Med Genet 2010; 47: 586-594.
27. Maya I, Davidov B, Gershovitz L, Zalzstein Y, Taub E, Coppinger J, Shaffer LG, Shohat M,. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn 2010; 30: 1131-1137.
28. Evangelidou P, Sismani C, Ioannides M, Christodoulou C, Koumbaris G, Kallikas I, Georgiou I, Velissariou V, Patsalis PC,. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet 2010; 3: 24.
29. Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, Leporrier N,. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA. Prenat Diagn 2011; DOI: 10.1002/pd.2861.
30. D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud J, Lemyre E,. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet 2012; 8: 128-141.
31. De Toffol S, Marcato L, Malvestiti F, Chinetti S, Grimi B, Maggi F, Simoni G, Grati FR,. Retrospective analysis of prenatal samples with sonographic anomalies using genome-wide bacterial artificial chromosome array comparative genomic hybridization. Prenat Diagn 2010; 30 (Suppl. 1):S24 (Abstract 9-4).
32. Leung TY, Vogel I, Lau TK, Chong W, Hyett JA, Petersen OB, Choy KW,. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol 2011; 38: 314-319.
33. Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, Liuti R, Trotta A, Chinetti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G,. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am J Med Genet A 2010; 152A: 1434-1442.
34. Warburton D,. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991; 49: 995-1013. (Pubitemid 21891747)
35. Kotzot D,. Complex and segmental uniparental disomy updated. J Med Genet 2008; 45: 545-556.
36. Liehr T,. Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 2010; 29: 8.
37. Beaudet AL,. Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice. Genome Med 2010; 2: 42.
38. Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, Coppinger J, Kashork CD, Shaffer LG, Bejjani BA,. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet A 2006; 140: 2757-2767. (Pubitemid 44865062)
39. Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR,. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genet Med 2009; 11: 646-654.
40. Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T,. Complex rearranged small super- numerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity? Mol Cytogenet 2008; 1: 6.
41. Tsuchiya KD, Opheim K, Hannibal M, Hing A, Glass IA, Raff M, Beattie C, Norwood T, Torchia B,. Unexpected complexity of supernumerary marker chromosomes revealed by microarray comparative genomic hybridization. Mol Cytogenet 2008; 1: 7.
42. Gruchy N, Lebrun M, Herlicoviez M, Alliet J, Gourdier D, Kottler ML, Mittre H, Leporrier N,. Supernumerary marker chromosomes management in prenatal diagnosis. Am J Med Genet A 2008; 146A: 2770-2776.
43. Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E,. Reciprocal translocations: a trap for cytogenetists? Hum Genet 2005; 117: 571-582. (Pubitemid 41535579)
44. Baptista J, Mercer C, Prigmore E, Gribble SM, Carter NP, Maloney V, Thomas NS, Jacobs PA, Crolla JA,. Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. Am J Hum Genet 2008; 82: 927-936.
45. Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries BD, Brunner H, Bongers E, Leeuw ND, van Ravenswaaij-Arts C,. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. Eur J Hum Genet 2011; 19: 1152-1160.