Filges Isabel, Kang Anjeung, Klug Vanessa, Wenzel Friedel, Heinimann Karl, Tercanli Sevgi, Miny Peter
Dr, med, Isabel Filges, Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, University of Basel, Burgfelderstrasse 101, Building J, CH-4055, Basel, Switzerland.
Mol Cytogenet. 2012 Sep 17;5(1):38. doi: 10.1186/1755-8166-5-38.
To describe the diagnostic performance of array comparative genomic hybridization (aCGH) as a potential first line diagnostic method in first trimester high risk pregnancies.
In a retrospective study we performed aCGH using a targeted array BAC platform (Constitutional Chip® 4.0, PerkinElmer, Turku Finland, median resolution 600 kB) and the Affymetrix Cytogenetics® Whole Genome 2.7 M array (at a resolution of 400kB) on 100 anonymized prenatal samples from first trimester high risk pregnancies with normal conventional karyotype. We studied the technical feasibility and turn-around-time as well as the detection rate of pathogenic submicroscopic chromosome anomalies and CNVs of unknown significance.
We obtained results in 98 of 100 samples in 3 to a maximum of 5 days after DNA extraction. At the given resolution we did not identify any additional pathogenic CNVs but two CNVs of unknown significance in the chromosomal regions 1q21.1q21.2 (deletion) and 5p15.33 (duplication) (2%).
In accordance with a growing number of reports this study supports the concept that aCGH at a resolution of 400-600kB may be used as a first line prenatal diagnostic test with high diagnostic safety and rapid turn-around time in high-risk first trimester pregnancies. Detection rate of CNVs of unknown significance, considered as a major hindrance for replacing conventional karyotyping by aCGH, is 2%, but the diagnosis of additional submicroscopic anomalies in this heterogeneous group of patients seems to be rare.
描述阵列比较基因组杂交（aCGH）作为孕早期高危妊娠潜在一线诊断方法的诊断性能。
在一项回顾性研究中，我们使用靶向阵列BAC平台（Constitutional Chip® 4.0，珀金埃尔默公司，芬兰图尔库，中位分辨率600 kB）和Affymetrix Cytogenetics®全基因组2.7M阵列（分辨率为400kB），对100例常规核型正常的孕早期高危妊娠的匿名产前样本进行aCGH检测。我们研究了技术可行性、周转时间以及致病性亚微观染色体异常和意义不明的拷贝数变异（CNV）的检出率。
在DNA提取后3至最多5天内，我们在100个样本中的98个获得了结果。在给定分辨率下，我们未发现任何额外的致病性CNV，但在染色体区域1q21.1q21.2（缺失）和5p15.33（重复）中发现了两个意义不明的CNV（2%）。
与越来越多的报告一致，本研究支持以下概念：分辨率为400 - 600kB的aCGH可作为孕早期高危妊娠的一线产前诊断测试，具有高诊断安全性和快速周转时间。被认为是aCGH取代传统核型分析的主要障碍的意义不明的CNV检出率为2%，但在这一异质性患者群体中额外亚微观异常的诊断似乎很少见。
