Array comparative genomic hybridization and fetal congenital heart defects: A systematic review and meta-analysis

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 1, 2015, Pages 27-35

  Jansen, F A R ^a   Blumenfeld, Y J ^b   Fisher, A ^c   Cobben, J M ^d   Odibo, A O ^e   Borrell, A ^f   Haak, M C ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Elliot Health System   (United States)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF SOUTH FLORIDA   (United States)

^f UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Array comparative genomic hybridization; Congenital heart defects; Copy number variants; Prenatal diagnosis

Indexed keywords

COMPARATIVE GENOMIC HYBRIDIZATION; COMPARATIVE STUDY; COPY NUMBER VARIATION; FEMALE; GENETIC COUNSELING; GENETICS; HEART DEFECTS, CONGENITAL; HUMAN; KARYOTYPING; META ANALYSIS; MICROARRAY ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC COUNSELING; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPING; MICROARRAY ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84920808101     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14695     Document Type: Review

References (47)

1. Hoffman JI, Kaplan S, Liberthson RR. Prevalence of congenital heart disease. Am Heart J 2004; 147: 425-439.
2. Michielon G, Marino B, Oricchio G, Digilio MC, Iorio F, Filippelli S, Placidi S, Di Donato RM. Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg 2009; 138: 565-570.
3. Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders SP, Di Donato RM. Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 2006; 81: 968-975.
4. Simsic JM, Coleman K, Maher KO, Cuadrado A, Kirshbom PM. Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery? Congenit Heart Dis 2009; 4: 160-165.
5. Song MS, Hu A, Dyamenahalli U, Chitayat D, Winsor EJ, Ryan G, Smallhorn J, Barrett J, Yoo SJ, Hornberger LK. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol 2009; 33: 552-559.
6. Chaoui R, Korner H, Bommer C, Goldner B, Bierlich A, Bollmann R. [Prenatal diagnosis of heart defects and associated chromosomal aberrations]. Ultraschall Med 1999; 20: 177-184.
7. Mademont-Soler I, Morales C, Soler A, Martínez-Crespo JM, Shen Y, Margarit E, Clusellas N, Obón M, Wu BL, Sánchez A. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. Ultrasound Obstet Gynecol 2013; 41: 375-382.
8. Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, Shin M, Correa A. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study. Pediatr Cardiol 2011; 32: 1147-1157.
9. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112: 707-720.
10. Miller SP, McQuillen PS, Hamrick S, Xu D, Glidden DV, Charlton N, Karl T, Azakie A, Ferriero DM, Barkovich AJ, Vigneron DB. Abnormal brain development in newborns with congenital heart disease. NEngl J Med 2007; 357: 1928-1938.
11. 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.
12. 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.
13. Vestergaard EM, Christensen R, Petersen OB, Vogel I. Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings. Acta Obstet Gynecol Scand 2013; 92: 762-768.
14. Faas BH, Feenstra I, Eggink AJ, Kooper AJ, Pfundt R, van Vugt JM, de Leeuw N. Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience. Prenat Diagn 2012; 32: 362-370.
15. Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012; 119: 614-625.
16. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012; 32: 986-995.
17. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367: 2175-2184.
18. 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 2012; 32: 383-388.
19. Armengol L, Nevado J, Serra-Juhé C, Plaja A, Mediano C, García-Santiago FA, García-Aragonés M, Villa O, Mansilla E, Preciado C, Fernández L, Ángeles Mori M, García-Pérez L, Lapunzina PD, Pérez-Jurado LA. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012; 131: 513-523.
20. Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ. Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow. Eur J Hum Genet 2011; 19: 1230-1237.
21. 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.
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. http://www.crd.york.ac.uk/CRDWeb/AboutPage.asp
24. Donnelly JC, Platt LD, Rebarber A, Zachary J, Grobman WA, Wapner RJ. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014; 124: 83-90.
25. Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, Meller CH, Williams D, Wapner RJ, Maher ER, Kilby MD. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013; 41: 610-620.
26. Liao C, Li R, Fu F, Xie G, Zhang Y, Pan M, Li J, Li D. Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenat Diagn 2014; 34: 858-863.
27. Bao B, Wang Y, Hu H, Yao H, Li Y, Tang S, Zheng L, Xu Y, Liang Z. Karyotypic and molecular genetic changes associated with fetal cardiovascular abnormalities: results of a retrospective 4-year ultrasonic diagnosis study. Int J Biol Sci 2013; 9: 463-471.
28. Yan Y, Wu Q, Zhang L, Wang X, Dan S, Deng D, Sun L, Yao L, Ma Y, Wang L. Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease. Ultrasound Obstet Gynecol 2014; 43: 404-412.
29. Chen M, Yang YS, Shih JC, Lin WH, Lee DJ, Lin YS, Chou CH, Cameron AD, Ginsberg NA, Chen CA, Lee ML, Ma GC. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. Ultrasound Obstet Gynecol 2014; 43: 396-403.
30. Schmid M, Stary S, Blaicher W, Gollinger M, Husslein P, Streubel B. Prenatal genetic diagnosis using microarray analysis in fetuses with congenital heart defects. Prenat Diagn 2012; 32: 376-382.
31. Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. Cytogenet Genome Res 2006; 115: 254-261.
32. Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007; 28: 2778-2784.
33. Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, Rayyan M, Allegaert K, Vanhole C, Eyskens B, Vermeesch JR, Gewillig M, Devriendt K. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr 2010; 156: 810-817.
34. Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V. Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatr Res 2008; 64: 358-363.
35. Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010; 47: 321-331.
36. Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 2011; 6: 592-602.
37. Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E. Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Pediatr Res 2013; 73: 772-776.
38. Lu XY, Phung MT, Shaw CA, Pham K, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 2008; 122: 1310-1318.
39. Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 2008; 45: 704-709.
40. Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol 2012; 33: 757-763.
41. Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet 2012; 81: 542-554.
42. Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K. Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. Cytogenet Genome Res 2011; 135: 251-259.
43. Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. NatGenet 2009; 41: 931-935.
44. 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.
45. Gómez O, Martínez JM, Olivella A, Bennasar M, Crispi F, Masoller N, Bartrons J, Puerto B, Gratacós E. Isolated ventricular septal defects in the era of advanced fetal echocardiography: risk of chromosomal anomalies and spontaneous closure rate from diagnosis to age of 1 year. Ultrasound Obstet Gynecol 2014; 43: 65-71.
46. Yin A, Lu J, Liu C, Guo L, Wu J, Mai M, Zhong Y, Zhang X. A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics. Mol Cytogenet 2014; 7: 26.
47. Pierpont ME, Basson CT, Benson DW Jr, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL; American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007; 115: 3015-3038.