Lapierre J M, Cacheux V, Luton D, Collot N, Oury J F, Aurias A, Tachdjian G
Service d'Histologie-Embryologie-Cytogénétique, Hôpital Robert Debré AP-HP, Paris, France.
Prenat Diagn. 2000 Feb;20(2):123-31. doi: 10.1002/(sici)1097-0223(200002)20:2<123::aid-pd762>3.0.co;2-b.
Comparative genomic hybridization (CGH) is a new molecular cytogenetic technique which can detect and map whole and partial aneuploidies throughout a genomic specimen DNA without culturing specimen cells. Thus, CGH may be used as a comprehensive and rapid screening test in prenatal unbalanced chromosomal abnormalities detection. We report the results of the first prospective study to evaluate the use of the CGH technique on uncultured amniocytes. Seventy-one amniotic fluid samples, obtained by transabdominal amniocentesis between the 14th and 35th weeks of gestation, were simultaneously investigated using CGH and conventional cytogenetics. Amniocentesis were done for advanced maternal age (21.1%), fetal ultrasound anomalies (73.3%) and high level of biochemical markers in maternal serum (5.6%). Sixty-six (93%) informative results were generated on a total of 71 analysed specimens. Fifty-nine samples were reported as disomic for all autosomes with a normal sex chromosome constitution using CGH and conventional cytogenetics. Among them, three pericentromeric chromosomal inversions were undetected by CGH analysis. Seven numerical aberrations were characterized, including one case of trisomy 13, one case of trisomy 18 and five cases of trisomy 21. Advantages and limitations of CGH for a rapid prenatal screening of unbalanced chromosomal aberrations are discussed.
比较基因组杂交（CGH）是一种新的分子细胞遗传学技术，它无需培养样本细胞就能检测和定位整个基因组样本DNA中的全部和部分非整倍体。因此，CGH可作为产前不平衡染色体异常检测的一种全面且快速的筛查试验。我们报告了第一项评估CGH技术在未培养羊水中使用情况的前瞻性研究结果。对71份在妊娠第14至35周经腹羊膜穿刺术获取的羊水样本，同时采用CGH和传统细胞遗传学方法进行研究。羊膜穿刺术的实施原因包括高龄产妇（21.1%）、胎儿超声异常（73.3%）以及孕妇血清中生化标志物水平升高（5.6%）。在总共71份分析样本中，获得了66份（93%）有效结果。使用CGH和传统细胞遗传学方法，59份样本被报告为所有常染色体二体且性染色体组成正常。其中，CGH分析未检测到3例着丝粒周围染色体倒位。鉴定出了七例数目异常情况，包括一例13三体、一例18三体和五例21三体。讨论了CGH在快速产前筛查不平衡染色体畸变方面的优缺点。
