The Replacement of Cytogenetic Analysis by Direct Chorionic Villi Sampling Preparation with Quantitative Fluorescence PCR

被引：4

作者：

Christopoulou, S. ^{[1
]}

Christopoulou, G. ^{[1
]}

Hatzaki, A. ^{[1
]}

Hatzipouliou, A. ^{[1
]}

Donoghue, J. ^{[1
]}

Karkaletsi, M. ^{[1
]}

Kaminopetros, P.

Sifakis, S.

Velissariou, V. ^{[1
,2
]}

机构：

[1] Univ Hosp Herakl, Dept Obstet Gynecol, Iraklion, Greece

[2] Mitera Gen Matern & Pediat Clin, Dept Genet & Mol Biol, GR-15123 Athens, Greece

来源：

GYNECOLOGIC AND OBSTETRIC INVESTIGATION | 2009年 / 68卷 / 04期

关键词：

Cytogenetic analysis; Direct chorionic villi sampling preparation; Fetal chromosomal abnormalities; Fetal karyotype; Long-term culture; Mosaicism; Prenatal diagnosis; Quantitative fluorescence PCR; RAPID PRENATAL-DIAGNOSIS; COMMON CHROMOSOME ANEUPLOIDIES; LONG-TERM CULTURE; OF-THE-LITERATURE; QF-PCR; UNIPARENTAL DISOMY; COMPLETE DISCREPANCY; CVS; EXPERIENCE; CELLS;

D O I：

10.1159/000240671

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Aim: The aim of this study is to assess the replacement of chromosomal analysis of chorionic villi (CV) direct preparation samples (DIR) by quantitative fluorescence PCR (QF-PCR) and to determine its advantages in routine prenatal diagnosis. Methods: From a total of 4,020 CV samples, rapid results were obtained either by conventional cytogenetic analysis of DIR in 2,770 samples, or by QF-PCR analysis in 1,250 samples. The final results were given after long-term culture (LTC). Results: The frequencies of unbalanced fetal karyotypes were not significantly different, being 4.8% by DIR-LTC and 4.3% by QF-PCR-LTC. No false-negative or false-positive results were obtained from either approach. Conclusion: QF-PCR can replace chromosomal analysis of CV-DIR in most cases during routine prenatal diagnosis, requiring smaller CV samples and being more labor effective. Coupled with LTC, it is a robust diagnostic approach with high predictive value for the most frequent fetal trisomies. Copyright (C) 2009 S. Karger AG, Basel

引用

页码：255 / 261

页数：7

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