Tabet A C, Aboura A, Dauge M C, Audibert F, Coulomb A, Batallan A, Couturier-Turpin M H, Feldmann G, Tachdjian G
Cytogénétique, Hôpital Bichat-Cl. Bernard, Inserm u327, Paris, France.
Prenat Diagn. 2001 Aug;21(8):613-8. doi: 10.1002/pd.115.
Cytogenetic studies of spontaneous abortions or intrauterine fetal death depend on conventional tissue culturing and karyotyping. This technique has limitations such as culture failure and selective growth of maternal cells. Fluorescent in situ hybridization (FISH) using specific probes permits diagnosis of aneuploidies but is limited to one or a few chromosomal regions. Comparative genomic hybridization (CGH) provides an overview of chromosomal gains and losses in a single hybridization directly from DNA samples. In a prospective study, we analyzed by CGH trophoblast cells from 21 fetuses in cases of spontaneous abortions, intrauterine fetal death or polymalformed syndrome. Six numerical chromosomal abnormalities including one trisomy 7, one trisomy 10, three trisomies 18, one trisomy 21 and one monosomy X have been correctly identified by CGH. One structural abnormality of the long arm of chromosome 1 has been characterized by CGH. One triploidy and two balanced pericentromeric inversions of chromosome 9 have not been identified by CGH. Sexual chromosomal constitutions were concordant by both classical cytogenetic technique and CGH. Contribution of trophoblast analysis by CGH in embryo-fetal development anomalies is discussed.
对自然流产或宫内胎儿死亡进行细胞遗传学研究依赖于传统的组织培养和核型分析。这项技术存在局限性，如培养失败以及母体细胞的选择性生长。使用特定探针的荧光原位杂交（FISH）可诊断非整倍体，但仅限于一个或几个染色体区域。比较基因组杂交（CGH）可直接从DNA样本中通过一次杂交提供染色体增减的总体情况。在一项前瞻性研究中，我们通过CGH分析了21例自然流产、宫内胎儿死亡或多发畸形综合征病例中胎儿的滋养层细胞。通过CGH正确识别出6种染色体数目异常，包括1例7号三体、1例10号三体、3例18号三体、1例21号三体和1例X单体。通过CGH确定了1号染色体长臂的1种结构异常。CGH未识别出1例三倍体和2例9号染色体的平衡臂间倒位。经典细胞遗传学技术和CGH得出的性染色体组成结果一致。本文讨论了CGH对滋养层细胞的分析在胚胎 - 胎儿发育异常中的作用。
