QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses

被引：16

作者：

Grati, Francesca R. ^{[1
]}

Malvestiti, Francesca ^{[1
]}

Grimi, Beatrice ^{[1
]}

Gaetani, Elisa ^{[1
]}

Di Meco, Anna Maria ^{[1
]}

Trotta, Anna ^{[1
]}

Liuti, Rosaria ^{[1
]}

Chinetti, Sara ^{[1
]}

Dulcetti, Francesca ^{[1
]}

Ruggeri, Anna Maria ^{[1
]}

Agrati, Cristina ^{[1
]}

Frascoli, Giuditta ^{[1
]}

Milani, Silvia ^{[1
]}

De Toffol, Simona ^{[1
]}

Martinoni, Lorenza ^{[1
]}

Paganini, Silvia ^{[1
]}

Marcato, Livia ^{[1
]}

Maggi, Federico ^{[1
]}

Simoni, Giuseppe ^{[1
]}

机构：

[1] TOMA Adv Biomed Assays, Res & Dev, Cytogenet & Mol Biol, Busto Arsizio, VA, Italy

来源：

PRENATAL DIAGNOSIS | 2013年 / 33卷 / 05期

关键词：

CONFINED PLACENTAL MOSAICISM; OF-THE-LITERATURE; CHROMOSOME ANEUPLOIDIES; COMPLETE DISCREPANCY; UNIPARENTAL DISOMY; RAPID DETECTION; CULTURED-CELLS; 1ST TRIMESTER; CVS; SAMPLES;

D O I：

10.1002/pd.4099

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objectives Karyotyping on chorionic villous samples (CVS) includes the analysis of both cytotrophoblast (STC) and mesenchyme (LTC). This approach requires complex laboratory organization and trained technicians. The introduction of quantitative fluorescent polymerase chain reaction (QF-PCR) instead of conventional karyotyping in low-risk pregnancies opened its application in CVS analysis. Discordant QF-PCR and CVS cytogenetic results were reported, and strategies for CVS analysis were introduced to minimize this risk. The possibility to substitute the STC with QF-PCR was reported. The aim of this study is to evaluate benefits and limitations of the approach QF-PCR+LTC compared with the traditional method STC+LTC and to quantify the associated risks of false results. Method This study is based on a retrospective cytogenetic audit of CVS results (n=44727) generated by the STC+LTC analytic approach. False-negative risks related to true fetal mosaicism type IV, imprinting syndromes and maternal contamination in LTC were calculated. Results Compared with STC+LTC, QF-PCR+LTC approach is associated with a cumulative false-negative risk of similar to 1/31001/4400. Costs and reporting time of STC in a high-throughput cytogenetic lab are similar to a CE-IVD marked QF-PCR analysis. Conclusions These results should be clearly highlighted in the pre-test counseling and extensively discussed with the couple prior to testing for informed consent. (c) 2013 John Wiley & Sons, Ltd.

引用

页码：502 / 508

页数：7

共 35 条

[1]

Adinolfi M, 1997, PRENATAL DIAG, V17, P1299

[2]

Allen S, PRACTICE GUIDELINES

[3] 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

[4]

[Anonymous], 1994, Prenat Diagn, V14, P363

[5]

[Anonymous], 1991, LANCET, V337, P1491

[6]

BRAMBATI B, 1983, LANCET, V1, P586

[7] The Replacement of Cytogenetic Analysis by Direct Chorionic Villi Sampling Preparation with Quantitative Fluorescence PCR [J].

Christopoulou, S. ;

Christopoulou, G. ;

Hatzaki, A. ;

Hatzipouliou, A. ;

Donoghue, J. ;

Karkaletsi, M. ;

Kaminopetros, P. ;

Sifakis, S. ;

Velissariou, V. .

GYNECOLOGIC AND OBSTETRIC INVESTIGATION, 2009, 68 (04) :255-261

[8] 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

[9] Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis [J].

Donaghue, C ;

Mann, K ;

Docherty, Z ;

Ogilvie, CM .

PRENATAL DIAGNOSIS, 2005, 25 (01) :65-72

[10] Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi [J].

Grati, FR ;

Grimi, B ;

Frascoli, G ;

Di Meco, AM ;

Liuti, R ;

Milani, S ;

Trotta, A ;

Dulcetti, F ;

Grosso, E ;

Miozzo, M ;

Maggi, F ;

Simoni, G .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (03) :282-288

← 1 2 3 4 →