无创产检检测诊断出胎儿猫眼综合症一例
A Case of Fetal Cat Eye Syndrome Diagnosed by Non-Invasive Prenatal Testing
DOI: 10.12677/md.2026.161024, PDF,    科研立项经费支持
作者: 邵曼曼, 吴晓慧, 黎瑞涵, 舒雪怡, 杨丁琪, 陈秋滟：济宁医学院医学影像与检验学院，山东 济宁；郭 焕*：济宁医学院附属医院医学检验科，山东 济宁
关键词: 无创产前检查；猫眼综合征；染色体微阵列分析；核型分析；22q11.2；病例报告；Non-Invasive Prenatal Testing； Cat Eye Syndrome； Chromosomal Microarray Analysis； Karyotyping； 22q11.2； Case Report
摘要: 目的：探讨联合应用多种遗传学检测技术在产前诊断无明显超声表型的猫眼综合征(CES)中的价值，并分析其遗传学特征。方法：对一例经无创产前检测(NIPT)提示22号染色体存在拷贝数增加的胎儿进行研究。通过羊水样本进行染色体核型分析及染色体微阵列分析(CMA)，结合细胞游离DNA低通量基因组测序技术，以精确鉴定其染色体重排。结果：NIPT提示22q11.1-q11.21区域存在约2.66 Mb的拷贝数增益。染色体核型分析确认所有中期细胞均存在22号染色体异常。CMA进一步精确定位到chr22q11.1-q11.21区域存在2.73 Mb的重复。该胎儿在妊娠期未表现出明显的超声结构异常。此外，分析发现chr22:16888899区域可能频繁发生同源重组事件。结论：对于无明显超声发现的染色体微重复(如CES)，产前诊断需联合NIPT与CMA等多种方法。本病例可能是首例报道的与特定遗传重组机制相关的嘴巴倾斜表型。
Abstract: Objective: To investigate the value of combined application of multiple genetic detection technologies in the prenatal diagnosis of cat-eye syndrome (CES) without obvious ultrasonic phenotypes, and to analyze its genetic characteristics. Methods: A fetus with copy number gain of chromosome 22, indicated by non-invasive prenatal testing (NIPT), was enrolled in this study. Chromosome karyotype analysis and chromosomal microarray analysis (CMA) were performed on amniotic fluid samples, combined with low-throughput genomic sequencing technology of cell-free DNA, to accurately identify the chromosomal rearrangement. Results: NIPT suggested a copy number gain of approximately 2.66 Mb in the 22q11.1-q11.21 region. Chromosome karyotype analysis confirmed the presence of chromosome 22 abnormality in all metaphase cells. CMA further precisely mapped a 2.73 Mb duplication in the chr22q11.1-q11.21 region. No obvious ultrasonic structural abnormalities were observed in the fetus during pregnancy. In addition, the analysis revealed that homologous recombination events may frequently occur in the chr22:16888899 region. Conclusion: For chromosomal microduplications (e.g., CES) without obvious ultrasonic findings, multiple methods such as NIPT combined with CMA are required for prenatal diagnosis. This case may be the first reported case of mouth deviation phenotype associated with a specific genetic recombination mechanism.
文章引用：邵曼曼, 吴晓慧, 黎瑞涵, 舒雪怡, 杨丁琪, 陈秋滟, 郭焕. 无创产检检测诊断出胎儿猫眼综合症一例[J]. 医学诊断, 2026, 16(1): 173-181. https://doi.org/10.12677/md.2026.161024

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