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目的 探讨21q部分三体胎儿的基因型与表型之间的对应关系。方法 应用G显带染色体核型分析及染色体微阵列分析(CMA),对孕妇外周血无创产前基因检测(NIPT)结果提示21三体或部分三体或B超提示异常的7例胎儿进行拷贝数变异检测，依据DGV、Decipher、omim、clinvar等数据库，根据美国医学遗传学学会与基因组学学会(ACMG)和临床基因组资源中心(Clingen)共识建议对拷贝数变异进行分类，明确重复片段的位置及大小，部分父母双方进行基因验证，并对其进行随访。结果 7例病例中，有3例病例NIPT提示21号染色体高风险，2例NIPT提示21号染色体部分重复，2例病例因B超提示异常行产前诊断，其中一例示左心强光斑，另一例示左侧脑室增宽。经CMA及核型分析检测，7例胎儿均存在21号染色体部分重复，重复位置和大小不一；其中3例遗传自表型正常父母，剩余4例样本未行父母验证，其中3例终止妊娠，1例选择继续妊娠，胎儿出生后表型正常。结论 21部分三体有多种形式，重复片段大小不一，临床表型异质性较大，可能表现为完全正常或仅有轻微的症状，也可能有典型的唐氏综合征(DS)的表型。在NIPT提示21三体高风险或B超提示与DS表型相关的异常时，应联合应用多种技术对胎儿进行产前诊断。
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基本信息:
中图分类号:R714.5;R440
引用信息:
[1]孙丹,王小艳,罗曼曼,等.应用单核苷酸多态性微阵列芯片及核型分析检测7例21q部分三体的产前遗传学诊断[J].生殖医学杂志,2022,31(06):834-837.
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