通过分子核型分析诊断流产：益处与陷阱
Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls.
作者信息
Robberecht Caroline, Schuddinck Vicky, Fryns Jean-Pierre, Vermeesch Joris Robert
机构信息
Center for Human Genetics, University Hospital Gasthuisberg, Leuven 3000, Belgium.
出版信息
Genet Med. 2009 Sep;11(9):646-54. doi: 10.1097/GIM.0b013e3181abc92a.
PURPOSE
About 50% of spontaneous abortions are caused by fetal chromosome abnormalities. Identification of these abnormalities helps to estimate recurrence risks in future pregnancies. However, due to culture failures or maternal contamination often no fetal karyotype can be obtained. Array comparative genomic hybridization can overcome some of these limitations.
METHODS
In this study, we analyzed 103 miscarriages by both T-banding and 1-Mb array comparative genomic hybridization.
RESULTS
We found an overall abnormality rate of 35% (34 of 96). In a comparison of 70 samples that were successfully analyzed by both techniques, 54 (77%) had identical karyotypes (42 normal, 12 abnormal) and 16 (23%) cases showed discrepancies. Most of these differences were due to maternal contamination during cell culture, which resulted erroneously in a normal female karyotype.
CONCLUSION
These results demonstrate the improved diagnostic yield of array comparative genomic hybridization as compared with conventional karyotyping. Therefore, we implemented this technique in the diagnostic workup of miscarriages.
目的
约50%的自然流产由胎儿染色体异常引起。识别这些异常有助于评估未来妊娠的复发风险。然而，由于培养失败或母体污染，常常无法获得胎儿核型。阵列比较基因组杂交可克服其中一些局限性。
方法
在本研究中，我们通过T显带和1兆碱基阵列比较基因组杂交对103例流产组织进行了分析。
结果
我们发现总体异常率为35%（96例中的34例）。在70例通过两种技术均成功分析的样本比较中，54例（77%）具有相同的核型（42例正常，12例异常），16例（23%）出现差异。这些差异大多是由于细胞培养过程中的母体污染，错误地导致了正常女性核型。
结论
这些结果表明，与传统核型分析相比，阵列比较基因组杂交的诊断效率有所提高。因此，我们在流产的诊断检查中应用了这项技术。
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