The value of chromosomal microarray analysis and fluorescencein situ hybridization for the prenatal diagnosis of chromosomal mosaicisms
郑建丽 1安宁 1李敏 1许孟军 1管永娟 1刘建兵 1梁程红 李岭
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作者信息
1. 盐城市妇幼保健院产前诊断中心，盐城 224001
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摘要
目的 探讨染色体微阵列分析(CMA)和荧光原位杂交(FISH)技术对于产前诊断染色体嵌合体的应用价值。 方法 选取2018年1月至2020年12月就诊于盐城市妇幼保健院产前诊断中心的775例孕妇作为研究对象。对其同时进行染色体核型分析和CMA检测，对部分疑似存在嵌合者进行FISH检测。 结果 在775份羊水标本中，核型分析共发现嵌合体13例，检出率为1.55%。性染色体数目异常嵌合、性染色体结构异常嵌合、常染色体数目异常嵌合和常染色体结构异常嵌合者分别为4例、3例、4例和2例。13例核型分析发现的嵌合体中，CMA检测仅发现了6例。3例经FISH验证的孕妇中，2例与核型及CMA结果一致，并且明确为低比例嵌合；1例与核型分析的结果一致，但CMA检测未见异常。8例嵌合体孕妇选择终止妊娠(性染色体嵌合5例，常染色体嵌合3例)。 结论 对于产前诊断疑似存在染色体嵌合的病例，应联合应用CMA、FISH与G显带核型技术准确判读嵌合类型和比例，为临床遗传咨询提供更为全面的信息。 Objective To assess the value of chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the prenatal diagnosis of chromosomal mosaicisms. Methods A total of 775 pregnant women who had visited the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected as study subjects. Chromosome karyotyping analysis and CMA were carried out for all women, and FISH was used to validate the suspected mosaicism cases. Results Among the 775 amniotic fluid samples, karyotyping has identified 13 mosaicism cases, which yielded a detection rate of 1.55%. Respectively, there were 4, 3, 4 and 2 cases for sex chromosome number mosaicisms, abnormal sex chromosome structure mosaicisms, abnormal autosomal number mosaicisms and abnormal autosomal structure mosaicisms. CMA has only detected only 6 of the 13 cases. Among 3 cases verified by FISH, 2 cases were consistent with the karyotyping and CMA results, and clearly showed low proportion mosaicism, and 1 case was consistent with the result of karyotyping but with a normal result by CMA. Eight pregnant women had chosen to terminate the pregnancy (5 with sex chromosome mosaicisms and 3 with autosomal mosaicisms). Conclusion For fetuses suspected for chromosomal mosaicisms, CMA, FISH and G-banding karyotyping should be combined to determine the type and proportion of mosaicisms more precisely in order to provide more information for genetic counseling.
Abstract
Objective To assess the value of chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the prenatal diagnosis of chromosomal mosaicisms. Methods A total of 775 pregnant women who had visited the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected as study subjects. Chromosome karyotyping analysis and CMA were carried out for all women, and FISH was used to validate the suspected mosaicism cases. Results Among the 775 amniotic fluid samples, karyotyping has identified 13 mosaicism cases, which yielded a detection rate of 1.55%. Respectively, there were 4, 3, 4 and 2 cases for sex chromosome number mosaicisms, abnormal sex chromosome structure mosaicisms, abnormal autosomal number mosaicisms and abnormal autosomal structure mosaicisms. CMA has only detected only 6 of the 13 cases. Among 3 cases verified by FISH, 2 cases were consistent with the karyotyping and CMA results, and clearly showed low proportion mosaicism, and 1 case was consistent with the result of karyotyping but with a normal result by CMA. Eight pregnant women had chosen to terminate the pregnancy (5 with sex chromosome mosaicisms and 3 with autosomal mosaicisms). Conclusion For fetuses suspected for chromosomal mosaicisms, CMA, FISH and G-banding karyotyping should be combined to determine the type and proportion of mosaicisms more precisely in order to provide more information for genetic counseling.
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