在32967例产前诊断中，通过核型分析、染色体微阵列分析和QF-PCR有效检测出148例染色体嵌合体。
Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.
作者信息
Deng Yi, Zeng Lan, Wu Zhiling, Wang Jin, Ye Mengling, Chen Chun, Wei Ping, Wang Danni, Deng Guangming, Zhu Shuyao
机构信息
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, 610031, China.
Department of Pediatrics, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, 610031, China.
出版信息
BMC Med Genomics. 2025 Apr 10;18(1):70. doi: 10.1186/s12920-025-02138-z.
BACKGROUND
Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM) was conducted in 32,967 pregnant women from January 2015 to December 2022.
METHODS
A total of 148 fetuses diagnosed with chromosomal mosaicism by karyotyping with copy number variant sequencing (CNV-seq)/ chromosomal microarray analysis (CMA) and quantitative fluorescent polymerase chain reaction (QF-PCR) were selected, and the results from three the methods were compared and further analyzed. The χ2 test for multiple group rates was for the 5 clinical prenatal diagnostic indication groups was used to do multiple comparison tests for statistical analysis. Inconsistent results between methods were identified and further analyzed.
RESULTS
A total of 148 CM cases was detected (0.45%, 148/32967), of which karyotyping was detected in combination with CMA in 73 cases (73/85), with CNV-seq in 5 cases (5/11), and with QF-PCR in 35 cases (35/52) and the mosaic conformity rates of the three methods compared with karyotyping were 85.9% (CMA), 67.3% (QF-PCR), and 45.5% (CNV-seq), respectively. There were 49 cases of autosomal mosaicism (49/148, 33.1%) and 99 cases of sex CM (99/148, 66.9%). There were 9 cases of small supernumerary marker chromosome (sSMC)with CMA detection clarified the origin of chromosome fragments. The non-invasive prenatal testing (NIPT) group and the ultrasound abnormality group had the highest detection rates, accounting for 35.1% and 22.3%.
CONCLUSIONS
In chromosomal mosaicism, there are inconsistent results between different detection methods. Therefore, karyotyping combined with CMA/CNV-seq and FISH methods significantly improves the detection rate of chromosomal mosaicism and also confirms experimental data in the literature, which is of great value for prenatal diagnosis.
背景
在产前诊断中，嵌合体的检测一直很困难，本研究旨在评估核型分析联合三种不同分子遗传学检测方法在产前诊断中的价值。对2015年1月至2022年12月期间32967例孕妇的染色体嵌合体（CM）进行回顾性分析。
方法
选取148例经核型分析联合拷贝数变异测序（CNV-seq）/染色体微阵列分析（CMA）及荧光定量聚合酶链反应（QF-PCR）诊断为染色体嵌合体的胎儿，比较并进一步分析三种方法的检测结果。采用多组率的χ2检验对5个临床产前诊断指征组进行多重比较检验，以进行统计分析。对方法间不一致的结果进行识别并进一步分析。
结果
共检测到148例CM病例（0.45%，148/32967），其中核型分析联合CMA检测到73例（73/85），联合CNV-seq检测到5例（5/11），联合QF-PCR检测到35例（35/52），三种方法与核型分析相比的嵌合符合率分别为85.9%（CMA）、67.3%（QF-PCR）和45.5%（CNV-seq）。有49例常染色体嵌合体（49/148，33.1%）和99例性染色体CM（99/148，66.9%）。CMA检测到9例小标记染色体（sSMC），明确了染色体片段的来源。无创产前检测（NIPT）组和超声异常组的检出率最高，分别为35.1%和22.3%。
结论
在染色体嵌合体中，不同检测方法的结果存在不一致。因此，核型分析联合CMA/CNV-seq和荧光原位杂交（FISH）方法显著提高了染色体嵌合体的检出率，也证实了文献中的实验数据，对产前诊断具有重要价值。
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