The value of combined CNV-seq and chromosomal karyotyping for the detection of amniocytic mosaicisms and a literature review
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目的 探讨低深度全基因组测序(CNV-seq)联合染色体核型分析对于羊水嵌合体的诊断价值，并对相关文献进行回顾。 方法 回顾分析2018年1月至2021年12月郑州大学第一附属医院遗传与产前诊断中心通过CNV-seq检测发现的40例以及11篇近期文献报道的245例羊水嵌合体，从检出率、验证符合率、妊娠结局等方面对其进行评估。 结果 本中心通过CNV-seq共检出40例嵌合体，检出率为0.46%(40/8621)，与染色体核型分析的符合率为75.0%。经随访，其中30例终止妊娠/胚胎停育/夭折，5例继续妊娠，活产3例，失访2例。11篇文献共在63 577例份羊水中发现了245例嵌合体，异常率约0.39%，验证符合率为62.8%(103/164)。经随访，114例终止妊娠、活产75例，失访18例。 结论 CNV-seq联合染色体核型分析对于诊断羊水嵌合体具有较高的价值。 Objective To assess the value of combined copy number variation sequencing (CNV-seq) and chromosomal karyotyping for the diagnosis of amniocytic mosaicisms, in addition with a literature review. Methods Forty cases of amniocytic mosaicisms detected at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2021, in addition with 245 mosaicisms retrieved from 11 recent literature were evaluated in terms of detection rate, consistency rate, and pregnancy outcomes. Results The detection rate of amniocytic mosaicisms was 0.46% (40/8 621) in our center. And its consistency rate with chromosomal karyotyping was 75.0% (30/40). After genetic counseling, 30 (75.0%) couples had opted to terminate the pregnancy, 5 (12.5%) had decided to continue with the pregnancy, 3 (7.5%) fetuses were born alive, and 2 cases (5.0%) were lost in touch. By contrast, 245 cases (0.39%) of mosaicisms were identified among 63 577 amniotic samples, with a consistency rate of 62.8% (103/164) with other techniques. Among these, 114 (55.1%) cases were terminated, 75 (36.2%) were born alive, and 18 (8.7%) were lost during the follow up. Conclusion Combined CNV-seq and chromosomal karyotyping have a high value for the detection of amniotic mosaicisms.
Objective To assess the value of combined copy number variation sequencing (CNV-seq) and chromosomal karyotyping for the diagnosis of amniocytic mosaicisms, in addition with a literature review. Methods Forty cases of amniocytic mosaicisms detected at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from January 2018 to December 2021, in addition with 245 mosaicisms retrieved from 11 recent literature were evaluated in terms of detection rate, consistency rate, and pregnancy outcomes. Results The detection rate of amniocytic mosaicisms was 0.46% (40/8 621) in our center. And its consistency rate with chromosomal karyotyping was 75.0% (30/40). After genetic counseling, 30 (75.0%) couples had opted to terminate the pregnancy, 5 (12.5%) had decided to continue with the pregnancy, 3 (7.5%) fetuses were born alive, and 2 cases (5.0%) were lost in touch. By contrast, 245 cases (0.39%) of mosaicisms were identified among 63 577 amniotic samples, with a consistency rate of 62.8% (103/164) with other techniques. Among these, 114 (55.1%) cases were terminated, 75 (36.2%) were born alive, and 18 (8.7%) were lost during the follow up. Conclusion Combined CNV-seq and chromosomal karyotyping have a high value for the detection of amniotic mosaicisms.
MosaicismCopy number variation sequencingChromosomal karyotyping
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