Introduction: To determine the cost-effectiveness of prenatal chromosomal microarray (CMA) when performed for structural anomalies on fetal ultrasound scan over conventional techniques. Method: A decision tree was populated using data from a prospective cohort of women undergoing testing when a fetal ultrasound scan showed a structural abnormality. Nine strategies of testing were modeled including combinations of the tests: QFPCR, G-band karyotyping, CMA and FISH for DiGeorge (22q) microdeletion. Results: When CMA costs GBP 405 and using a 1-Mb BAC array it would cost GBP 24,600 for every additional case detected by CMA over a combination of QFPCR, followed by G-band karyotype, followed lastly by FISH (for DiGeorge syndrome). If CMA is performed instead of conventional karyotyping alone it costs GBP 33,000 for every additional case detected. However, if the cost of CMA is reduced to GBP 360 than when CMA is performed instead of conventional karyotyping alone it would cost GBP 9,768 for every additional case detected. Discussion: The use of a prenatal BAC CMA is not currently cost-effective when compared to other testing strategies. However, as CMA costs decrease and resolution (and detection rates) increase it is likely to become the cost-effective option of the future.

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.
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.
Shaffer LG, Dabell MP, Fisher AJ, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Rosenfeld JA: Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5,000 pregnancies. Prenat Diagn 2012;32:976-985.
Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, Meller CH, Williams D, Wapner RJ, Maher ER, Kilby MD: Prenatal chromosomal microarray use: a prospective cohort of fetuses and a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013;41:610-620.
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 for prenatal diagnosis in 300 cases. Prenat Diagn 2009;29:29-39.
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 3,171 pregnancies. BJOG 2012;119:614-625.
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.
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.
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.
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.
Vialard F, Molina GD, Leroy B, Quarello E, Escalona A, Le SC, Serazin V, Roume J, Ville Y, de MP, Selva J: Array comparative genomic hybridization in prenatal diagnosis: another experience. Fetal Diagn Ther 2009;25:277-284.
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.
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.
Valduga M, Philippe C, Bach SP, 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.
Fiorentino F, Caiazzo F, Napolitano S, Spizzichino L, Bono S, Sessa M, Nuccitelli A, Biricik A, Gordon A, Rizzo G, Baldi M: Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1,000 consecutive clinical cases. Prenat Diagn 2011;31:1270-1282.
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.
D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Desilets 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 2011;81:128-141.
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.
Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van OD, Galjaard RJ: Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities. Mol Cytogenet 2012;5:14.
Armengol L, Nevado J, Serra-Juhe C, Plaja A, Mediano C, Garcia-Santiago FA, Garcia-Aragones M, Villa O, Mansilla E, Preciado C, Fernandez L, Angeles MM, Garcia-Perez L, Lapunzina PD, Perez-Jurado LA: Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012;131:513-523.
Curtis L (ed): Unit Costs of Health and Social Care 2011. Canterbury, Personal Social Services Research Unit, 2011, pp 1-237.
Doran CM, Einfeld SL, Madden RH, Otim M, Horstead SK, Ellis LA, Emerson E: How much does intellectual disability really cost? First estimates for Australia. J Intellect Dev Disabil 2012;37:42-49.
Bernhardt BA, Soucier D, Hanson K, Savage MS, Jackson L, Wapner RJ: Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med 2013;15:139-145.
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