摘要目的:探讨7q11.23拷贝数变异(copy number variants，CNVs)胎儿的产前超声表现和诊断方法。方法:对2016年1月至2020年6月在我院产前诊断中心接受介入性产前诊断，且经单核苷酸多态性微阵列(single nucleotide polymorphism array，SNP芯片)检测诊断为7q11.23微缺失/微重复者的产前诊断指征、胎儿超声检查情况、染色体核型、变异溯源、妊娠结局、出生后的生长发育情况等进行分析和文献回顾。结果:5例胎儿存在7q11.23 CNVs，包括3例7q11.23微缺失和2例7q11.23微重复。产前超声指标异常4例，未发现异常1例。所有病例的染色体核型分析均未发现异常。3例7q11.23微缺失中，2例为新发变异，1例未做溯源；2例7q11.23微重复中，1例为新发变异，另1例遗传自表型正常的父亲。3例7q11.23微缺失和1例新发的7q11.23微重复胎儿被终止妊娠。1例携带父源7q11.23微重复的胎儿足月分娩，随访8个月未见异常。结论:7q11.23微缺失/微重复的临床表型具有异质性，SNP芯片可准确检测7q11.23 CNVs，为其产前诊断和遗传咨询提供依据。

abstractsObjective:To investigate the ultrasonographic findings and genetic testing methods for fetuses carrying copy number variants (CNVs)of 7q11.23 region.Methods:Prenatal cases with 7q11.23 microdeletion/microduplication detected by single nucleotide polymorphism array (SNP array) from January 2016 to June 2020 were retrospectively analyzed, including fetal ultrasound, chromosomal karyotype, SNP array, pregnancy outcome and follow-up. Literature on 7q11.23 CNVs identified upon prenatal diagnosis was also reviewed.Results:Five fetuses were found with 7q11.23 CNVs, including 3 microdeletions and 2 microduplications. Of them, 4 had ultrasonographic anomalies. The karyotypes of all fetuses were normal. Of three 7q11.23 microdeletions, two were de novo, while the remaining one couple did not accept parental verification. Of two 7q11.23 microduplications, one was de novo and the another was inherited from a phenotypic normal father. Three 7q11.23 microdeletions and one de novo 7q11.23 microduplication were electively aborted. One fetus carrying paternally inherited 7q11.23 microduplication was delivered full term. Follow-up found the infant had a normal phenotype. Conclusion:Fetuses with 7q11.23 microdeletions or microduplications showed phenotypic heterogeneity. SNP array can accurately detect 7q11.23 CNVs, thereby provide accurate information for prenatal diagnosis and genetic counseling.