Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

REFERENCES

• Eiben B, Bartels I, Bahr-Porsch S, Borgmann S, Gatz G, Gellert G, Goebel R, Hammans W, Hentemann M, Osmers R, Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 47:656–63, 1990.
   PubMed Web of Science ®Google Scholar
• Nikcevic AV, Tunkel SA, Kuczmierczyk AR, Nicolaides KH. Investigation of the cause of miscarriage and its influence on women's psychological distress. Br J Obstet Gynaecol 106:808–13, 1999.
   PubMedGoogle Scholar
• Diego-Alvarez D, Garcia-Hoyos M, Trujillo MJ, Gonzalez-Gonzalez C, Rodriguez de Alba M, Ayuso C, Ramos-Corrales C, Lorda-Sanchez I. Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages. Hum Reprod 20:1235–43, 2005.
   PubMed Web of Science ®Google Scholar
• Donaghue C, Mann K, Docherty Z, Mazzaschi R, Fear C, Ogilvie C. Combined QF-PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis. Prenat Diagn 30:133–7, 2010.
   PubMed Web of Science ®Google Scholar
• McClelland LS, Allen SK, Larkins SA, Hamilton SJ, Marton T, Cox PM, Hargitai B, Johnston EH, Morgan C, Hardy G. Implementation and experience of an alternative QF-PCR and MLPA diagnostic strategy to detect chromosomal abnormalities in fetal and neonatal pathology samples. Pediatr Dev Pathol 6:460–8, 2011.
   Google Scholar
• Cirigliano V, Ejarque M, Canadas MP, Lloveras E, Plaja A, Perez MM, Fuster C, Egozcue J. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 7:1001–06, 2001.
   PubMed Web of Science ®Google Scholar
• Cirigliano V, Voglino G, Canadas MP, Marongiu A, Ejarque M, Ordonez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 10:839–46, 2004.
   PubMed Web of Science ®Google Scholar
• Cirigliano V, Voglino G, Ordonez E, Marongiu A, Paz Canadas M, Ejarque M, Rueda L, Lloveras E, Fuster C, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat Diagn 29:40–9, 2009.
   PubMedGoogle Scholar
• Hills A, Donaghue C, Waters J, Waters K, Sullivan C, Kulkarni A, Docherty Z, Mann K, Ogilvie CM. QF-PCR as a stand-alone test for prenatal samples: the first 2 years’ experience in the London region. Prenat Diagn 30:509–17, 2010.
   PubMedGoogle Scholar
• Ochshorn Y, Bar-Shira A, Jonish A, Yaron Y. Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, and X by quantitative fluorescence polymerase chain reaction. Fetal Diagn Ther 21:326–31, 2006.
   PubMedGoogle Scholar
• Onay H, Ugurlu T, Aykut A, Pehlivan S, Inal M, Tinar S, Ozkinay C, Ozkinay F. Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction. Gynecol Obstet Invest 66:104–10, 2008.
   PubMedGoogle Scholar
• Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet 36:300–3, 1999.
   PubMedGoogle Scholar
• Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M. Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod 5:1176–9, 1999.
   PubMed Web of Science ®Google Scholar
• Ferre F. Quantitative or semi-quantitative PCR: reality versus myth. PCR Methods Appl 2:1–9, 1992.
   PubMedGoogle Scholar
• Donaghue C, Roberts A, Mann K, Ogilvie CM. Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn 23:201–10, 2003.
   PubMedGoogle Scholar
• Allingham-Hawkins DJ, Chitayat D, Cirigliano V, Summers A, Tokunaga J, Winsor E, Chun K. Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidies. Genet Med 13:140–7, 2011.
   PubMedGoogle Scholar
• Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 358:1057–61, 2001.
   PubMed Web of Science ®Google Scholar
• Putzova M, Pecnova L, Dvorakova L, Soldatova I, Goetz P, Stejskal D. OmniPlex–a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population. Prenat Diagn 28:1214–20, 2008.
   PubMedGoogle Scholar
• Butler JM, Shen Y, McCord BR. The development of reduced size STR amplicons as tools for analysis of degraded DNA. J Forensic Sci 48:1054–64, 2003.
   PubMed Web of Science ®Google Scholar
• Hill CR, Kline MC, Coble MD, Butler JM. Characterization of 26 miniSTR loci for improved analysis of degraded DNA samples. J Forensic Sci 53:73–80, 2008.
   PubMed Web of Science ®Google Scholar
• Efron B. Bootstrap methods: another look at the jackknife. Ann Stat 7:1–26, 1979.
   Web of Science ®Google Scholar
• Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 19:1099–1103, 1999.
   PubMedGoogle Scholar
• Nicolini U, Lalatta F, Natacci F, Curcio C, Bui TH. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration. Hum Reprod Update 10:541–8, 2004.
   PubMed Web of Science ®Google Scholar
• Hulten MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126:279–97, 2003.
   PubMed Web of Science ®Google Scholar
• Diego-Alvarez D, Rodriguez de Alba M, Cardero-Merlo R, Diaz-Recasens J, Ayuso C, Ramos C, Lorda-Sanchez I. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. Prenat Diagn 27:765–71, 2007.
   PubMed Web of Science ®Google Scholar
• Paxton CN, South S, Brothman AR, Geiersbach K. A comparison of emerging technologies for aneuploidy detection in spontaneous pregnancy loss. In: 12th International Congress of Human Genetics/61st Annual Meeting of the American Society of Human Genetics. Montreal, Canada, 2011.
   Google Scholar