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[早期胎儿染色体核型分析及其在产前诊断中的作用]

[Early fetal karyotyping and its role in prenatal diagnosis].

作者信息

Vodicka R, Adamová K, Capková P, Santavý J

机构信息

Ustav lékarské genetiky a fetální medicíny, LF UP a FN Olomouc.

出版信息

Ceska Gynekol. 2000 Nov;65(6):432-5.

PMID:11272063
Abstract

OBJECTIVE

Shift of indicated invasive examination in prenatal diagnostics towards the earlier phases of pregnancy with preservation of quality of cytogenetic detection.

DESIGN

Cytogenetic and molecular-cytogenetic analysis of the chorionic villi after long term culture.

SETTING

Department of Medical Genetics and Foetal Medicine, Faculty of Medicine, Palacky University Olomouc, Faculty Hospital in Olomouc.

METHODS

Cultivation of fibroblasts developing from chorionic villi after enzymatic or mechanical disintegration and their karyotyping. Using fluorescent in situ hybridisation to identify the most common chromosomal aneuploidies and to determine gonosomes in indicated cases.

RESULTS

Testing and optimisation of long term culture method and its routine use. Method was utilised so far in 12 patients and successfulness was 83%. Additional fluorescent in situ hybridisation was performed in 6 cases.

CONCLUSION

Using long term culture method of chorionic villi as reliable and routine tool in prenatal diagnostics.

摘要

目的

在保持细胞遗传学检测质量的前提下,使产前诊断中指定的侵入性检查向妊娠早期阶段转变。

设计

对长期培养后的绒毛进行细胞遗传学和分子细胞遗传学分析。

地点

奥洛穆茨帕拉茨基大学医学院医学遗传学与胎儿医学系,奥洛穆茨大学医院。

方法

酶解或机械解离后从绒毛中生长的成纤维细胞培养及其核型分析。在指定病例中使用荧光原位杂交来鉴定最常见的染色体非整倍体并确定性染色体。

结果

长期培养方法的测试和优化及其常规使用。该方法迄今已用于12例患者,成功率为83%。6例患者进行了额外的荧光原位杂交。

结论

将绒毛长期培养方法用作产前诊断中可靠的常规工具。

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1
[Early fetal karyotyping and its role in prenatal diagnosis].[早期胎儿染色体核型分析及其在产前诊断中的作用]
Ceska Gynekol. 2000 Nov;65(6):432-5.
2
First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies.早孕期超声异常胎儿孕妇行产前诊断:间期荧光原位杂交(FISH)在检测主要非整倍体中的间充质核心的可靠性。
Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):143-6. doi: 10.1016/j.ejogrb.2009.12.015. Epub 2010 Jan 4.
3
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Am J Obstet Gynecol. 1992 Dec;167(6):1522-5. doi: 10.1016/0002-9378(92)91731-o.
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[Prenatal diagnosis of chromosomal aberrations in first trimester pregnancy--methods for cytogenetic analysis of the trophoblast].
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Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time.用于染色体缺陷产前诊断的绒毛膜绒毛培养:缩短长期培养时间。
Prenat Diagn. 1989 May;9(5):309-19. doi: 10.1002/pd.1970090503.
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[Prenatal diagnosis of chromosomal anomalies by chorionic villi sampling: culture technic and preliminary results].
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Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization: a one-year clinical experience with high-risk and urgent fetal and postnatal samples.通过间期荧光原位杂交技术对染色体非整倍体进行快速产前诊断:高危及紧急胎儿和产后样本的一年临床经验。
Acta Obstet Gynecol Scand. 2000 Jan;79(1):8-14.
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Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi.绒毛膜绒毛短期和长期培养分析后异常核型的准确性。
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Cytobios. 1988;55(220):21-31.
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[The prenatal cytogenetic diagnosis of fetal chromosomal pathology in women in a high-risk group].[高危组女性胎儿染色体病变的产前细胞遗传学诊断]
Tsitol Genet. 1996 Sep-Oct;30(5):22-6.