Benkhalifa M, Kasakyan S, Clement P, Baldi M, Tachdjian G, Demirol A, Gurgan T, Fiorentino F, Mohammed M, Qumsiyeh M B
ATL R&D, Reproductive Biology & Genetics Laboratory, Voisins Le Bretx, France.
Prenat Diagn. 2005 Oct;25(10):894-900. doi: 10.1002/pd.1230.
Cytogenetic analysis of spontaneous abortion samples can be limited by culture failure. Failure to grow in vitro has traditionally been suspected to be due to in vivo death of tissue associated with spontaneous abortion (SAB) or simply technical factors of growth in culture.
We used array comparative genomic hybridization (array CGH) to investigate chromosomal imbalances in products of conception that failed to grow in vitro.
Our data on 26 cases of SABs that failed to grow in culture are compared and contrasted with published data on cytogenetic findings following in vitro culture. The results revealed abnormalities uncommonly seen by classic cytogenetic methods. These abnormalities include high rates of double aneuploidy and autosomal monosomy. The data taken together suggest that classic cytogenetics of spontaneous abortion may yield normal karyotypes or selected abnormal karyotypes that permit cell proliferation in vitro while Array CGH detects other abnormalities.
Array CGH is becoming an important clinical assay for unbalanced chromosome abnormalities whether cells grow in culture or not and in cases of analysis on one or few cells.
自然流产样本的细胞遗传学分析可能会受到培养失败的限制。传统上，体外培养失败被怀疑是由于与自然流产（SAB）相关的组织在体内死亡，或者仅仅是培养生长的技术因素。
我们使用阵列比较基因组杂交（array CGH）来研究体外未能生长的妊娠产物中的染色体失衡情况。
我们关于26例体外未能生长的自然流产病例的数据，与已发表的体外培养后细胞遗传学发现的数据进行了比较和对比。结果显示出经典细胞遗传学方法罕见的异常情况。这些异常包括高比率的双三体性和常染色体单体性。综合这些数据表明，自然流产的经典细胞遗传学可能产生正常核型或允许细胞在体外增殖的特定异常核型，而阵列CGH则能检测到其他异常情况。
无论细胞是否能在培养中生长以及在对一个或几个细胞进行分析的情况下，阵列CGH正成为检测染色体失衡异常的一项重要临床检测方法。
