Controversies in prenatal diagnosis 3: Should everyone undergoing invasive testing have a microarray?

Prenatal Diagnosis

Volumn 34, Issue 1, 2014, Pages 18-22

  Crolla, John A ^a   Wapner, Ronald ^b   Van Lith, Jan M M ^c  

^a WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

^b College of Physicians and Surgeons ^*  (United States)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; CAT CRY SYNDROME; CHROMOSOMAL MICROARRAY ANALYSIS; CHROMOSOME 22Q; CHROMOSOME 22Q11.2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; DOWN SYNDROME; FETUS ECHOGRAPHY; GENETIC SCREENING; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; JACOBSEN SYNDROME; KARYOTYPING; MATERNAL AGE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; RUBINSTEIN SYNDROME; WOLF HIRSCHHORN SYNDROME;

CHROMOSOME ABERRATIONS; CYTOGENETIC ANALYSIS; FEMALE; FETUS; GENETIC TESTING; HUMANS; KARYOTYPING; MICROARRAY ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84891513906     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4287     Document Type: Article

References (34)

1. Steele M, Breg WJ. Chromosome analysis of human amniotic-fluid cells. Lancet 1966;1:383-5.
2. Jacobson CB, Barter RH. Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 1967;99:796-807.
3. Simoni G, Brambati B, Danesino C, et al. Efficient direct chromosome analysis and enzyme determinations from chorionic villus samples in the first trimester of pregnancy. Hum Genet 1983;63:349-57.
4. Wald NJ, Cuckle HS, Densem JW, et al. Maternal serum screening for Down's syndrome in early pregnancy. BMJ 1988;883-7.
5. De Jong A, Dondorp WJ, Timmermans DRM, et al. Rapid aneuploidy detection or karyotyping? Ethical reflection. Eur J Hum Genet 2011;19:1020-5.
6. De Jong A, Dondorp WJ, Macvill MVE, et al. Microarrays as a diagnostic tool in prenatal screening strategies. Ethical reflection. Hum Genet 2013 [Epub ahead of print].
7. 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.
8. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
9. 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. Prenatal diagnosis 2011;31:1270-82.
10. Schwartz S. Clinical utility of single nucleotide polymorphism arrays. Clinics in Laboratory Medicine 2011;31:581-94, viii.
11. Shaffer LG, Rosenfeld JA. Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities. Expert Rev Mol Diagn 2013;13:601-1.
12. Tang SX, Yi JJ, Calkins ME, et al. Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychological Medicine 2013: available on CJO2013. DOI: 10.1017/S0033291713001669.
13. Donnelly J, Platt L, Rebarber A, Wapner R. Association of Copy Number Variants With Single and Multiple Structural Anomalies of Specific Fetal Organ Systems Presented at 17th International Conference on Prenatal Diagnosis and Therapy, 2013; Lisbon Portugal.
14. Han SH, An JW, Jeong GY, et al. Clinical and cytogenetic findings on 31, 615 mid-trimester amniocenteses. The Korean Journal of Laboratory Medicine 2008;28:378-85.
15. Chang YW, Chang CM, Sung PL, et al. An overview of a 30-year experience with amniocentesis in a single tertiary medical center in Taiwan. Taiwanese Journal of Obstetrics & Gynecology 2012;51:206-11.
16. Wald NJ, Rodeck C, Hackshaw AK, et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003;10:56-104.
17. Mann K, Hills A, Donaghue C, et al. Quantitative fluorescence PCR analysis of >40, 000 prenatal samples for the rapid diagnosis of trisomies 13, 18 and 21 and monosomy X. Prenat Diagn 2012;32:1197-204
18. Caine A, Maltby AE, Parkin CA, et al. UK Association of Clinical Cytogeneticists (ACC). Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005;366:123-8.
19. Vissers LE, de Vries BB, Osoegawa K, et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003;73:1261-70.
20. Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004;41:241-8.
21. Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-8.
22. Lafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
23. Rickman L, Fiegler H, Carter NP, Bobrow M. Prenatal diagnosis by array-CGH. Eur J Med Genet 2005;48:232-40.
24. Rickman L, Fiegler H, Shaw-Smith C, et al. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 2006;43:353-61.
25. Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diag 2012;32:1-10.
26. Lee C-N, Lin S-Y, Lin C-H, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012;119:614-25.
27. Tyreman M, Abbott KM, Willatt LR, et al. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet 2009;46:531-41.
28. Srebniak MI, Boter M, Oudesluijs GO, et al. Genomic SNP array as a gold standard for prenatal diagnosis of foetal ulltrasound abnormalities. Mol Cytogenet 2012;5:14-7.
29. Rooryck C, Toutain J, Cailley D, et al. Prenatal diagnosis using array-CGH: a French experience. Eur J Med Genet 2013. DOI: 10.1016/j.ejmg.2013.02.003.
30. Callaway JL, Shaffer LG, Chitty L, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn. 2013 Aug 23. DOI: 10.1002/pd.4209. [Epub ahead of print].
31. Mikhaelian M, Veach PM, MacFarlane I, et al. Prenatal chromosomal microarray analysis: a survey of prenatal genetic counselors' experiences and attitudes. Prenat Diagn 2013;33:371-7.
32. Baldwin EL, Lee JY, Blake DM, et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008;10:415-29.
33. Vetro A, Bouman K, Hastings R, et al. The introduction of arrays in prenatal diagnosis: a special challenge. Hum Mutat 2012;33:923-9.
34. Ganesamoorthy D, Bruno DL, McGillivray G, et al. Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants? BJOG 2013;120:594-606.