QF-PCR-based prenatal detection of common aneuploidies in the Czech population: Five years of experience

European Journal of Medical Genetics

Volumn 51, Issue 3, 2008, Pages 209-218

  Putzova, Martina ^a   Soldatova, Inna ^a   Pecnova, Lubomira ^a   Dvorakova, Lucie ^a   Jencikova, Nada ^a   Goetz, Petr ^b   Stejskal, David ^a  

^a Gennet   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Dual testing; Prenatal diagnosis; QF PCR; Rapid aneuploidy detection (RAD)

Indexed keywords

ADULT; ALLELE; ANEUPLOIDY; ANXIETY; ARTICLE; CHROMOSOME ABERRATION; ECHOGRAPHY; FEMALE; FETUS; GENETIC SCREENING; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; TRISOMY 21;

ANEUPLOIDY; CHROMOSOME ABERRATIONS; CZECH REPUBLIC; HUMANS; KARYOTYPING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

EID: 43049170486     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.003     Document Type: Article

References (20)

1. Adinolfi M., Pertl B., and Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenatal Diagn. 17 (1997) 1299-1311
2. Adinolfi M., Sherlock J., and Pertl B. Rapid detection of selected aneuploidies by quantitative fluorescent PCR. Bioessays 17 (1995) 661-664
3. Caine A., Maltby A.E., Parkin C.A., Waters J.J., and Crolla J.A. 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 366 9480 (2005) 123-128
4. Chitty L.S., Kagan K.O., Molina F.S., Waters J.J., and Nicolaides K.H. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 332 7539 (2006) 452-455
5. Choueiri M.B., Makhoul N.J., Zreik T.G., Mattar F., Adra A.M., Eid R., Mroueh A.M., and Zalloua P.A. The consanguinity effect on QF-PCR diagnosis of autosomal anomalies. Prenatal Diagn. 26 5 (2006) 409-414
6. Cirigliano V., Sherlock J., Conway G., Quilter C., Rodeck C., and Adinolfi M. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenatal Diagn. 19 12 (1999) 1099-1103
7. Cirigliano V., Voglino G., Cañadas P., Marongiu A., Ejarque M., Ordoñez E., Plaja A., Massorbrio M., Todros T., Fuster C., Campogrande M., Egozcue J., and Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18.000 consecutive clinical samples. Mol. Hum. Reprod. 10 (2004) 839-846
8. Cirigliano V., Voglino G., Marongiu A., Cañadas P., Ordoñez E., Lloveras P., Plaja A., Fuster C., and Adinolfi M. Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications. Ann. N.Y. Acad. Sci. 1075 (2006) 288-298
9. Donaghue C., Roberts A., Mann K., and Ogilvie C.M. Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenatal Diagn. 23 3 (2003) 201-210
10. Findlay I., Matthews P., and Quirke P. Multiple genetic diagnoses from single cells using multiplex PCR: reliability and allele dropout. Prenatal Diagn. 18 (1998) 1413-1421
11. Kagan K.O., Chitty L.S., Cicero S., Eleftheriades M., and Nicolaides K.H. Ultrasound findings before amniocentesis in selecting the method of analysing the sample. Prenatal Diagn. 27 1 (2007) 34-39
12. Mann K., Donaghue C., Fox S.P., Docherty Z., and Ogilvie C.M. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur. J. Hum. Genet. 12 (2004) 907-915
13. Mann K., Fox S.P., Abbs S.J., Yau S.C., Scriven P.N., Docherty Z., and Ogilvie C.M. 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 (2001) 1057-1061
14. Ochshorn Y., Bar-Shira A., Jonish A., and Yaron Y. Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13 and X by quantitative fluorescence polymerase chain reaction. Fetal Diagn. Ther. 21 4 (2006) 326-331
15. Ogilvie C.M., Donaghue C., Fox S.P., Docherty Z., and Mann K. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J. Histochem. Cytochem. 53 3 (2005) 285-288
16. Ogilvie C.M., Lashwood A., Chitty L., Waters J.J., Scriven P.N., and Flinter F. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG 112 10 (2005) 1369-1375
17. Pertl B., Kopp S., Kroisel P.M., Häusler M., Sherlock J., Winter R., and Adinolfi M. Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex. Am. J. Obstet. Gynecol. 177 4 (1997) 899-906
18. Pertl B., Kopp S., Lercher-Hartlieb A., Orescovic I., Haeusler M., Winter R., Kroisel P., and Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J. Med. Genet. 36 4 (1999) 300-303
19. Summers A.M., Huang T., Meier C., and Wyatt P.R. The implication of a false positive second-trimester serum screen for Down syndrome. Obstet. Gynecol. 101 3 (2003) 1301-1306
20. Witters I., Devriendt K., Legius E., Matthijs G., Van Schoubroeck D., Van Assche F.A., and Fryns J.P. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenatal Diagn. 22 1 (2002) 29-33