Follow-up of fetuses withde novo copy number variations of unknown significance detected by chromosomal microarray analysis
顾雷雷 1刘威 1周春香 1曹培暄 1朱湘玉 1李洁 1梁程红 李岭
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作者信息
1. 南京大学医学院附属鼓楼医院妇产医学中心·产前诊断中心，南京 210008
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摘要
目的 探讨产前染色体微阵列分析(CMA)结果为新发临床意义不明变异(VOUS)胎儿的临床预后。 方法 以2017年7月至2021年12月在南京大学医学院附属鼓楼医院产前诊断中心接受检测的6 826例胎儿为研究对象。回顾性分析其CMA检测的结果，对判定为新发VOUS的胎儿进行随访。 结果 在6 826例胎儿中，506例为VOUS，其中237例进行了溯源检测，24例为新发变异。有效随访20例，随访时间范围为出生后4 ~ 26个月，其中4例引产，4例出生后出现临床表型，12例未见异常。 结论 建议对VOUS进行溯源检测，并对携带新发VOUS的胎儿进行持续随访，以明确VOUS的临床意义。 Objective To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA). Methods A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up. Results Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal. Conclusion Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.
Abstract
Objective To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA). Methods A total of 6 826 fetuses who underwent prenatal CMA detection at the Prenatal Diagnosis Center of Drum Tower Hospital from July 2017 to December 2021 were selected as the study subjects. The results of prenatal diagnosis, and outcome of fetuses identified with VOUS of de novo origin were followed up. Results Among the 6 826 fetuses, 506 have carried VOUS, of which 237 were detected for the parent-of-origin and 24 were found to be de novo. Among the latters, 20 were followed up for 4 to 24 months. Four couples had opted elective abortion, 4 had developed clinical phenotypes after birth, and 12 were normal. Conclusion Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.
关键词
染色体微阵列分析/临床意义不明变异/新发变异/胎儿
Key words
Chromosomal microarray analysis/Variants of unknown significance/De novo variant/Fetus
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