External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic techniques: 3 Years experience

Prenatal Diagnosis

Volumn 27, Issue 5, 2007, Pages 404-408

  Ramsden, S C ^a   Mann, K ^b   McConnell, C ^c   Hastings, R ^d  

^a ST MARY S HOSPITAL   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Aneuploidy; External quality assessment; QF PCR

Indexed keywords

ANEUPLOIDY; ARTICLE; CLINICAL LABORATORY; DIAGNOSTIC TEST; EUROPE; FAMILY HISTORY; FLUORESCENCE; GENOTYPE; HUMAN; MOLECULAR GENETICS; MONOSOMY X; NUMERICAL CHROMOSOME ABERRATION; PATIENT ASSESSMENT; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; TRISOMY; DIAGNOSTIC PROCEDURE; EVALUATION; FEMALE; HEALTH CARE QUALITY; LABORATORY; PREDICTION AND FORECASTING; PREGNANCY; STANDARD;

ANEUPLOIDY; EUROPE; FEMALE; HUMANS; LABORATORIES; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; QUALITY ASSURANCE, HEALTH CARE;

EID: 34347220136     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1698     Document Type: Article

References (22)

1. Burkardt HJ. 2000. Standardisation and quality control of PCR analyses. Clin Chem Lab Med 38: 87-91.
2. Cirigliano V, Voglino G, Adinolfi M. 2005. Non-invasive screening and rapid QF-PCR assay can greatly reduce the need for conventional cytogenetic analyses in prenatal diagnosis. Reprod Biomed Online 11: 671-673.
3. Cirigliano V, Ejarque M, Canadas MP, et al. 2001. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 7: 1001-1006.
4. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE. 2001. Quality control in molecular genetic testing. Nat Rev Genet 2: 717-723.
5. Donaghue C, Roberts A, Mann K, Ogilvie CM. 2003. Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn 23: 201-210.
6. Donaghue C, Mann K, Docherty Z, Ogilvie CM. 2005. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 25: 65-72.
7. Human Tissue Act. 2004. http://www.opsi.gov.uk/acts/acts2004/20040030.htm (Accessed November, 2006).
8. Ibarreta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E. 2004. Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 22: 1230-1235.
9. Levett LJ, Liddle S, Meredith R. 2001. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 17: 115-118.
10. Libeer JC. 2001. Role of external quality assurance schemes in assessing and improving quality in medical laboratories. Clin Chim Acta 309: 173-177.
11. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. 2004. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 12: 907-915.
12. Mann K, Fox SP, Abbs SJ, et al. 2001. 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: 1057-1061.
13. Mansfield ES. 1993. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 2: 43-50.
14. Neumaier M, Braun A, Wagener C. 1988. Fundamentals of quality assessment of molecular amplification methods in clinical diagnostics. International Federation of Clinical Chemistry Scientific Division Committee on Molecular Biology Techniques. Clin Chem 44: 12-26.
15. Noll WW, Belloni DR, Stenzel T, Grody WW. 1999. HFE C282Y heterozygote with intron 4 (5569A) polymorphism was correctly genotyped by all 67 laboratories in a nationwide ACMG/CAP molecular genetics proficiency survey. Nat Genet 23: 271-272.
16. Patton S, Barton D, Elles R. 2000. Retaining the confidence of the public in molecular genetic testing-quality assurance. Community Genet 3: 164-169.
17. Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. 1999. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet 36: 300-303.
18. Ramsden SC, Deans Z, Robinson DO, et al. 2006. Monitoring standards for molecular genetic testing in the United Kingdom, The Netherlands, and Ireland. Genet Test 10: 147-156.
19. Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. 2005. Consent and Confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. Report of the Joint Committee on Medical Genetics. London: RCP, RCPath, BSHG.
20. Schmidt W, Jenderny J, Hecher K, et al. 2000. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 6: 855-860.
21. Spathas DH, Divane A, Maniatis GM, Ferguson-Smith ME, Ferguson-Smith MA. 1994. Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: a prospective study. Prenat Diagn 14: 1049-1054.
22. Verma L, MacDonald F, Leedham P, McConachie M, Dhanjal S, Hulten M. 1998. Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet 352: 9-12.