Uncovering recurrent microdeletion syndromes and subtelomeric deletions/duplications through non-selective application of a MLPA-based extended prenatal panel in routine prenatal diagnosis

Prenatal Diagnosis

Volumn 31, Issue 6, 2011, Pages 571-577

  Konialis, Christopher ^a   Hagnefelt, Birgitta ^a   Sevastidou, Sophia ^a   Karapanou, Sophia ^a   Pispili, Katerina ^a   Markaki, Aggeliki ^a   Pangalos, Constantinos ^a  

^a InterGenetics Diagnostic Genetics Centre   (Greece)

Author keywords

Array CGH; Microdeletion syndromes; MLPA; Prenatal diagnosis; Subtelomeric aberrations

Indexed keywords

AMNIOCENTESIS; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; DNA DETERMINATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SYNDROME;

ADULT; CHORIONIC VILLI SAMPLING; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC TESTS, ROUTINE; FEMALE; GENE DUPLICATION; HUMANS; INCIDENCE; KARYOTYPING; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; PRENATAL DIAGNOSIS; RECURRENCE; SYNDROME; TELOMERE;

EID: 79956283262     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2750     Document Type: Article

References (35)

1. Ballif BC, Theisen A, Coppinger J, et al. 2008. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1: 8-s12.
2. Coppinger J, Alliman S, Lamb AN, Torchia BS, Bejjani BA, Shaffer LG. 2009. 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 29: 1156-1166.
3. Friedman JM. 2009. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 29: 20-28.
4. Hills A, Donaghue C, Waters J, et al. 2010. QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region. Prenat Diagn 30: 509-517.
5. Iafrate AJ, Feuk L, Rivera MN, et al. 2004. Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
6. Le Caignec C, Boceno M, Saugier-Veber P, et al. 2005. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. J Med Genet 42: 121-128.
7. Leung WC, Lau ET, Lau WL, et al. 2008. Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide? Hong Kong Med J 14: 6-13.
8. Liehr T, Ewers E. 2009. Handling small supernumerary marker chromosomes in prenatal diagnostics. Expert Rev Mol Diagn 9: 317-324.
9. Liehr T, Mrasek K, Weise A, et al. 2006. Small supernumerary marker chromosomes-progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112: 23-34.
10. Liehr T, Weise A. 2007. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19: 719-731.
11. Lisi EC, Hamosh A, Doheny KF, et al. 2008. 3q29 interstitial microduplication: a new syndrome in a three-generation family. Am J Med Genet A 146: 601-609.
12. Lu X-Y, Phung MT, Shaw CA, et al. 2008. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics 122: 1310-1318.
13. Lupski JR, Cheung SW. 2008. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5, 380 cases. Am J Med Genet A 146A: 2242-2251.
14. Maya I, Davidov B, Gershovitz L, et al. 2010. Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn 30: 1131-1137.
15. Northrop EL, Ren H, Bruno DL, et al. 2005. Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Hum Mutat 26: 477-486.
16. Ogilvie CM, Yaron Y, Beaudet AL. 2009. Current controversies in prenatal diagnosis 3: For prenatal diagnosis, should we offer less or more than metaphase karyotyping? Prenat Diagn 29: 11-14.
17. Quenard A, Yilmaz S, Fontaine H, et al. 2006. Deleterious mutations in exon 1of MECP2 in Rett syndrome. Eur J Med Genet 49: 313-322.
18. Rauch A, Hoyer J, Guth S, et al. 2006. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 140A: 2063-2074.
19. Redon R, Ishikawa S, Fitch KR, et al. 2006. Global variation in copy number in the human genome. Nature 444: 444-454.
20. Rooms L, Reyniers E, Van Luijk R, et al. 2004. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation dependent probe amplification (MLPA). Hum Mutat 23: 17-21.
21. Ruiter EM, Koolen DA, Kleefstra T, et al. 2007. Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet 72: 362-368.
22. Sahoo T, Cheung SW, Ward P, et al. 2006. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 8: 719-727.
23. Saller DN, Canick JA. 2008. Current methods of prenatal screening for Down syndrome and other fetal abnormalities. Clin Obstet Gynecol 51: 24-36.
24. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. 2002. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 15: e57.
25. Sebat J, Lakshmi B, Troge J, et al. 2004. Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
26. Shaffer LG, Coppinger J, Alliman S, et al. 2008. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 28: 789-795.
27. Shaffer LG, Bui T-H. 2007. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet Part C Semin Med Genet 145C: 87-98.
28. Shao L, Shaw CA, Lu XY, et al. 2008. Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5, 380 cases. Am J Med Genet A 146A: 2242-2251.
29. Shinawi M, Liu P, Kang SH, et al. 2009. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47: 332-341.
30. South TS, Lamb AN. 2009. Detecting genomic imbalances in prenatal diagnosis: main hurdles and recent advances. Expert Opin Med Diagn 3: 227-235.
31. Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. 2003. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BR J Obstet Gynaecol 110: 281-286.
32. Van den Veyver IB, Patel A, Shaw CA, et al. 2009. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 29: 29-39.
33. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. 2003. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine, and Ultrasound Screening Study (SURUSS). Health Technol Assess 7: 1-94.
34. Weiss LA, Shen Y, Korn JM, et al. 2008. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358: 667-675.
35. Wu Y, Ji T, Wang J, et al. 2010. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet 11: 72.