Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Hôpital Estaing, Clermont-Ferrand, France; INSERM U1240 Imagerie Moléculaire et Stratégies Théranostiques, Université Clermont Auvergne, Clermont Ferrand, France.
Cytogénétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Hôpital Estaing, Clermont-Ferrand, France; Service de Biochimie et Génétique Moléculaire, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, France; Université Clermont Auvergne, CNRS, Inserm, GReD, 63001 Clermont-Ferrand, France.
Clin Chim Acta. 2023 Nov 1;551:117594. doi: 10.1016/j.cca.2023.117594. Epub 2023 Oct 12.
Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods.
A total of 37 prenatal samples from pregnancies with a fetal anomaly on ultrasound were analyzed prospectively by OGM between January 1, 2021 and June 31, 2022. OGM results were interpreted blindly and compared to the results obtained by standard techniques.
OGM results were interpretable in 92% of samples. We observed 100% concordance between OGM and karyotype and/or chromosomal microarray results. In addition, OGM identified a median of 30 small (<100 kb) structural variations per case with the involvement of 12 OMIM genes, of which 3 were OMIM morbid genes.
This prospective study showed OGM performed well in detecting genomic alterations in cell cultures from prenatal samples. The place of OGM in relation to CMA or exome sequencing remains to be defined in order to optimize the prenatal diagnostic procedure.
细胞遗传学分析为产前决策和遗传咨询提供了重要信息。光学基因组图谱（OGM）已在回顾性研究中证明了其性能。在我们的前瞻性研究中，我们评估了从羊水（AF）和绒毛（CV）培养物中获得的 DNA 质量，并评估了 OGM 检测所有临床相关畸变的能力，这些畸变是通过标准方法确定的。
2021 年 1 月 1 日至 2022 年 6 月 31 日，前瞻性地分析了 37 例超声检查胎儿异常的产前样本。OGM 结果进行盲法解读，并与标准技术的结果进行比较。
OGM 结果可解释 92%的样本。我们观察到 OGM 与核型和/或染色体微阵列结果的一致性为 100%。此外，OGM 平均每例检测到 30 个小（<100kb）结构变异，涉及 12 个 OMIM 基因，其中 3 个是 OMIM 致病基因。
这项前瞻性研究表明，OGM 能够很好地检测产前样本细胞培养物中的基因组改变。OGM 与 CMA 或外显子组测序的关系仍有待确定，以便优化产前诊断程序。
