孤立性和非孤立性鼻骨发育超声异常胎儿染色体核型及微阵列异常的比较分析

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摘要目的探讨染色体核型与染色体微阵列分析(CMA)在鼻骨缺失或发育不良胎儿产前诊断中的应用。方法选取2018年1月至2020年5月在本院产前超声筛查发现鼻骨缺失或发育不良的166例胎儿,根据是否合并其他微小异常或者结构异常分为孤立性组和非孤立性组,行羊膜腔穿刺术后羊水标本均进行染色体核型及染色体微阵列分析,分析鼻骨缺失或发育不良与染色体异常的关系。结果 166例鼻骨缺失或鼻骨发育异常的胎儿羊水样本中,检出染色体核型异常16例,检出率9.6%,染色体微阵列分析(CMA)异常19例,检出率11.4%。孤立性鼻骨发育异常137例,其中染色体核型异常6例,检出率4.4%;非孤立性的鼻骨发育异常29例,其中染色体核型异常10例,检出率34.5%。孤立性组CMA检出致病性拷贝数变异(CNVs)7例,检出率5.1%,非孤立性组CMA检出致病性CNVs 12例,检出率41.3%。结论孤立性的胎儿鼻骨发育产前超声筛查异常,其染色体核型及CMA异常合计发生率高达7.3%(10/137),建议介入性产前诊断,指导后续优生干预;非孤立性的胎儿鼻骨发育产前超声筛查异常,染色体核型及CMA异常发生率更高,强烈建议介入性产前诊断,指导优生干预。

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关键词 ：鼻骨发育异常, 产前超声筛查, 产前诊断, 染色体核型, 染色体微阵列分析

Abstract：Objective To explore the application of chromosomal karyotype and chromosomal microarray analysis (CMA) in prenatal diagnosis of fetuses with nasal bone loss or dysplasia. Methods We collected 166 cases of nasal bone absence or dysplasia in prenatal ultrasound screening in our hospital from January 2018 to May 2020. They were divided into isolated group and non-isolated group based on whether to combine other minor or structural anomalies. All pregnant women underwent amniotic cavity puncture, and we analyzed chromosomal G band and microarray in amniotic fluid samples to investigate the relationship between nasal bone loss or dysplasia and chromosomal abnormities. Results Among the 166 fetal amniotic fluid samples with nasal bone absence or dysplasia, 16 cases of abnormal karyotype were detected, with a rate of 9.6%. And 19 cases of abnormal CMA were detected, with a rate of 11.4%. In 137 cases of isolated nasal bone dysplasia, 6 cases were detected with abnormal chromosomal karyotype, with a rate of 4.4%. Among 29 cases of non-isolated abnormal nasal bone development, 10 cases were detected with abnormal chromosomal karyotype, with a rate of 34.5%. There were 7 (5.1% detection rate) and 12 cases (41.3% detection rate) of pathogenic copy number variation (CNVs) in CMA isolated group and non-isolated group, respectively. Conclusion Isolated fetal nasal bone development is abnormal in prenatal ultrasound screening, with the total incidence of chromosomal karyotype and CMA abnormalities up to 11.7% (16/137). The incidences in non-isolated fetal nasal bone development are higher. Prenatal diagnosis is recommended to guide subsequent eugenic intervention.

Key words： abnormal nasal bone development prenatal ultrasound screening prenatal diagnosis chromosome karyotype chromosomal microarray analysis

收稿日期: 2021-08-10

ZTFLH:

R71

通讯作者: 刘艳秋(lyq0914@126.com)

引用本文:

潘璐, 袁慧珍, 黄婷婷, 邹永毅, 饶慧华, 刘艳秋. 孤立性和非孤立性鼻骨发育超声异常胎儿染色体核型及微阵列异常的比较分析[J]. 中国生育健康杂志, 2023, 34(1): 66-70. PAN Lu, YUAN Huizhen, ZOU Yongyi, RAO Huihua, LIU Yanqiu. Comparative analysis of fetal chromosomal karyotype and microarray abnormalities in isolated and non-isolated nasal bone developmental ultrasound. Chinese Journal of Reproductive Health, 2023, 34(1): 66-70.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2023/V34/I1/66

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