Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction

Gynecologic and Obstetric Investigation

Volumn 66, Issue 2, 2008, Pages 104-110

  Onay, Huseyin ^a,c   Ugurlu, Timur ^b   Aykut, Ayca ^a   Pehlivan, Sacide ^a   Inal, Murat ^b   Tinar, Sivekar ^b   Ozkinay, Cihangir ^a   Ozkinay, Ferda ^a  

^a EGE UNIVERSITY   (Turkey)

^b Ege Maternity and Womens' Health Teaching Hospital   (Turkey)

^c EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Amniotic fluid; Aneuploidy; Prenatal diagnosis; Quantitative fluorescent polymerase chain reaction

Indexed keywords

ADULT; AMNION FLUID ANALYSIS; ANEUPLOIDY; ARTICLE; CHROMOSOME ANALYSIS; DIAGNOSTIC KIT; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; FEMALE; FETUS; FLUORESCENCE ANALYSIS; FLUORESCENT POLYMERASE CHAIN REACTION; HUMAN; KARYOTYPE 47,XXX; KLINEFELTER SYNDROME; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; SHORT TANDEM REPEAT; STRUCTURAL CHROMOSOME ABERRATION; TRIPLOIDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNER SYNDROME;

AMNIOTIC FLUID; ANEUPLOIDY; DNA; FEMALE; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; TANDEM REPEAT SEQUENCES; TRISOMY;

EID: 51149109404     PISSN: 03787346     EISSN: None     Source Type: Journal    
DOI: 10.1159/000128598     Document Type: Article

References (10)

1. Mansfield ES: Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993;2:43-50.
2. 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 2001;7:1001-1006.
3. 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 2001;358:1057-1061.
4. Dudarewicz L, Holzgreve W, Jeziorowska A, Jakubowski L, Zimmermann B: Molecular methods for rapid detection of aneuploidy. J Appl Genet 2005;46:207-215.
5. Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM: Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001;21:293-301.
6. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
7. Donaghue C, Roberts A, Mann K, Ogilvie CM: Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance. Prenat Diagn 2003;23:201-210.
8. Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM: Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005;25:1032-1039.
9. Stojilkovic-Mikic T, Mann K, Docherty Z, Mackie Ogilvie C: Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping. Prenat Diagn 2005;25:79-83.
10. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM: Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004;12:907-915.