Refining quantitative fluorescent polymerase chain reaction for prenatal detection of X chromosomal anomalies in the major Southeast Asian populations

Singapore Medical Journal

Volumn 49, Issue 12, 2008, Pages 1025-1028

  Gole, Leena ^a   Adrianne, F ^b   Ee, A M ^b   Ng, B L ^a   Baig, S ^a   Koay, E ^c   Biswas, A ^a   Choolani, M ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b DEPARTMENT OF ELECTRONICS AND COMPUTER ENGINEERING   (Singapore)

^c NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

Amniotic fluid samples; Cytogenetics; Prenatal diagnosis; Quantitative fluorescent polymerase chain reaction; Turner syndrome; X chromosome abnormalities

Indexed keywords

AMNION FLUID ANALYSIS; ARTICLE; CHINESE; CHROMOSOME MARKER; CONTROLLED STUDY; CYTOGENETICS; FLUORESCENCE; HOMOZYGOSITY; HUMAN; INDIAN; MALAYSIA; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SOUTHEAST ASIA; X CHROMOSOME ABERRATION;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 58849100340     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 2005; 53:285-8.
2. 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; 23:201-10.
3. Fisher AM, Cockwell AE, Moore KJ, et al. Rapid in situ harvesting and cytogenetic analysis of perinatal tissue samples. Prenat Diagn 1996; 16:615-21.
4. Cirigliano V, Sherlock J, Conway G, et al. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 1999; 19:1099-103.
5. Mann K, Fox SP, Abbs SJ, et al. 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; 358:1057-61.
6. Schmidt W, Jenderny J, Hecher K, et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 2000; 6:855-60.
7. Goddijn M, van Stralen M, Schuring-Blom H, et al. Detection of chromosome abnormalities by quantitative fluorescent PCR in ectopic pregnancies. Gynecol Obstet Invest 2005; 60:139-44.
8. 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 2006; 21:326-31.
9. Quaife R, Wong LF, Tan SY, et al. QF-PCR-based prenatal detection of aneuploidy in a Southeast Asian population. Prenat Diagn 2004; 24:407-13.
10. Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M. Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 2001; 65:421-7.
11. Cirigliano V, Voglino G, Marongiu A, et al. Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications. Ann N Y Acad Sci 2006; 1075:288-98.
12. Cirigliano V, Ejarque M, Fuster C, Adinolfi M. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 2002; 8:1042-5.
13. Papp C, Beke A, Mezei G, et al. Prenatal diagnosis of Turner syndrome: report on 69 cases. J Ultrasound Med 2006; 25:711-7.
14. Chen CP, Chern SR, Chang CL, et al. Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY. Prenat Diagn 2000; 20:754-7.
15. Donaghue C, Mann K, Docherty Z, Ogilvie CM. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005; 25:65-72.
16. Covone AE, Voglino G, Ravazzolo R. Sex chromosome rearrangements leading to partial aneuploidies and mosaicisms: use of QF-PCR for detection and quantification of the involved cell lines. Int J Mol Med 2004; 14:743-6.
17. Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. Genetic variation at five trimeric and tetrameric tandem repeats. Genomics 1992; 12:241-53.
18. Sullivan KM, Mannucci A, Kimpton CP, Gill P. A rapid and quantitative DNA sex test: fluorescence based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 1993; 15:636-42.