Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases

Prenatal Diagnosis

Volumn 35, Issue 13, 2015, Pages 1269-1277

  Papoulidis, Ioannis ^a   Sotiriadis, Alexandros ^b   Siomou, Elisavet ^a   Papageorgiou, Elena ^a   Eleftheriades, Makarios ^c   Papadopoulos, Vasilios ^d   Oikonomidou, Eirini ^e   Orru, Sandro ^f   Manolakos, Emmanouil ^a   Athanasiadis, Apostolos ^b  

^a Access to Genome   (Greece)

^b ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^c Embryocare Fetal Medicine Unit   (Greece)

^d UNIVERSITY OF PATRAS   (Greece)

^e Laboratory of Genetics   (Greece)

^f UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; CHROMOSOME ABERRATION; CLINICAL EVALUATION; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; ECHOGRAPHY; FEMALE; FETUS MALFORMATION; HUMAN; INTERMETHOD COMPARISON; KARYOTYPING; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MICROARRAY KIT; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; CHROMOSOME DISORDERS; COMPARATIVE STUDY; PREGNANCY; PROCEDURES;

CHROMOSOME DISORDERS; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84954366452     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4685     Document Type: Article

References (28)

1. Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007;17:182-92.
2. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.
3. Sahoo T, Cheung SW, Ward P, et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006;8:719-27.
4. Fiorentino F, Caiazzo F, Napolitano S, et al. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenat Diagn 2011;31:1270-82.
5. Fiorentino F, Napoletano S, Caiazzo F, et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet 2013;21:725-30.
6. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
7. American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 2013;122(6):1374-7.
8. Lee CN, Lin SY, Lin CH, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012;119(5):614-25.
9. Park SJ, Jung EH, Ryu RS, et al. Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Mol Cytogenet 2011;4:12.
10. Armengol L, Nevado J, Serra-Juhé C, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012;131:513-23.
11. Breman A, Pursley AN, Hixson P, et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat Diagn 2012;32:351-61.
12. Scott F, Murphy K, Carey L, et al. Prenatal diagnosis using combined quantitative fluorescent polymerase chain reaction and array comparative genomic hybridization analysis as a first-line test: results from over 1000 consecutive cases. Ultrasound Obstet Gynecol 2013;41:500-7.
13. Papoulidis I, Siomou E, Sotiriadis A, et al. Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13, 500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications. Prenat Diagn 2012;32:680-5.
14. Shaffer LG, Bejjani BA. A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update 2004;10:221-6.
15. Hillman SC, Pretlove S, Coomarasamy A, et al. 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.
16. Jansen FA, Blumenfeld YJ, Fisher A, et al. Array comparative genomic hybridization and fetal congenital heart defects - a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2014;45(1):27-35.
17. Huang J, Poon LC, Akolekar R, et al. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? Ultrasound Obstet Gynecol 2014;43:620-4
18. Maya I, Davidov B, Gershovitz L, et al. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn 2010;30(12-13):1131-7.
19. 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(1):29-39.
20. Coppinger J, Alliman S, Lamb AN, et al. 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(12):1156-66.
21. Kleeman L, Bianchi DW, Shaffer LG, et al. Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype. Prenat Diagn 2009;29(13):1213-7.
22. Tyreman M, Abbott KM, Willatt LR, et al. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 2009;46(8):531-41.
23. Bi W, Breman AM, Venable SF, et al. Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH. Prenat Diagn 2008;28(10):943-9.
24. Shaffer LG, Coppinger J, Alliman S, et al. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008;28(9):789-95.
25. Vialard F, Molina Gomes D, Leroy B, et al. Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 2009;25(2):277-84.
26. Le Caignec C, Boceno M, Saugier-Veber P, et al. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 2005;42(2):121-8.
27. Giardino D, Corti C, Ballarati L, et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn 2009;29(3):257-65.
28. Vetro A, Bouman K, Hastings R, et al. The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat 2012;33:923-9.