QF-PCR: application, overview and review of the literature

被引：44

作者：

Mann, Kathy ^{[1
]}

Ogilvie, Caroline Mackie ^{[2
]}

机构：

[1] Guys & St Thomas Hosp, GSTS Pathol, Dept Cytogenet, London SE1 9RT, England

[2] Guys & St Thomas NH Fdn Trust, Dept Cytogenet, London SE1 9RT, England

来源：

PRENATAL DIAGNOSIS | 2012年 / 32卷 / 04期

关键词：

QF-PCR; PGD; karyotyping; RAPID PRENATAL-DIAGNOSIS; POLYMERASE-CHAIN-REACTION; QUANTITATIVE FLUORESCENT PCR; COMMON CHROMOSOME ANEUPLOIDIES; LONG-TERM CULTURE; DOWNS-SYNDROME; UNCULTURED AMNIOCYTES; KARYOTYPE ANALYSIS; COMPLETE DISCREPANCY; FULL KARYOTYPE;

D O I：

10.1002/pd.2945

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its application at our centre is described, with developments including stand-alone testing and improvements in strategies for the preparation and testing of chorionic villus biopsies. (C) 2012 John Wiley & Sons, Ltd.

引用

页码：309 / 314

页数：6

共 43 条

[1] Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance [J].

Ahn, Joo Wook ;

Mann, Kathy ;

Walsh, Sally ;

Shehab, Marwa ;

Hoang, Sarah ;

Docherty, Zoe ;

Mohammed, Shehla ;

Ogilvie, Caroline Mackie .

MOLECULAR CYTOGENETICS, 2010, 3

[2] Rapid prenatal diagnosis of common trisomies: Discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS [J].

Allen, S. K. ;

Luharia, A. ;

Gould, C. P. ;

MacDonald, F. ;

Larkins, S. ;

Davison, E. V. .

PRENATAL DIAGNOSIS, 2006, 26 (12) :1160-1167

[3] Is karyotyping couples experiencing recurrent miscarriage worth the cost? [J].

Barber, J. C. K. ;

Cockwell, A. E. ;

Grant, E. ;

Williams, S. ;

Dunn, R. ;

Ogilvie, C. M. .

BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2010, 117 (07) :885-888

[4] Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR [J].

Bili, C ;

Divane, A ;

Apessos, A ;

Konstantinos, T ;

Apostolos, A ;

Ioannis, B ;

Periklis, T ;

Florentin, L .

PRENATAL DIAGNOSIS, 2002, 22 (05) :360-365

[5] 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 [J].

Caine, A ;

Maltby, AE ;

Parkin, CA ;

Waters, JJ ;

Crolla, JA .

LANCET, 2005, 366 (9480) :123-128

[6]

Cirigliano V, 1999, PRENATAL DIAG, V19, P1099, DOI 10.1002/(SICI)1097-0223(199912)19:12<1099::AID-PD709>3.0.CO

[7]

2-2

[8] Rapid prenatal diagnosis of aneuploidies [J].

Cirigliano, V ;

Ejarque, M ;

Cingliam, PCA ;

Fuster, C .

LANCET, 2002, 359 (9304) :442-443

[9] Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies [J].

Cirigliano, V ;

Ejarque, M ;

Cañadas, MP ;

Lloveras, E ;

Plaja, A ;

Perez, MD ;

Fuster, C ;

Egozcue, J .

MOLECULAR HUMAN REPRODUCTION, 2001, 7 (10) :1001-1006

[10] Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience [J].

Cirigliano, Vincenzo ;

Voglino, Gianfranco ;

Ordonez, Elena ;

Marongiu, Antonella ;

Paz Canadas, M. ;

Ejarque, Maijo ;

Rueda, Laura ;

Lloveras, Elisabet ;

Fuster, Carme ;

Adinolfi, Matteo .

PRENATAL DIAGNOSIS, 2009, 29 (01) :40-49

← 1 2 3 4 5 →