Gu Leilei, Liu Wei, Zhou Chunxiang, Cao Peixuan, Zhu Xiangyu, Li Jie
Prenatal Diagnosis Center, Center for Obstetrics and Gynecology, Nanjing Drum Tower Hospital, Nanjing University Medical School, Nanjing, Jiangsu 210008, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):442-445. doi: 10.3760/cma.j.cn5113874-20220901-00595.
To analyze the prognosis of fetuses identified with de novo variants of unknown significance (VOUS) by chromosome microarray analysis (CMA).
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.
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.
Fetuses with VOUS should be continuously follow-up, in particular those carrying de novo VOUS, in order to clarify their clinical significance.
分析通过染色体微阵列分析（CMA）鉴定出的意义不明的新发变异（VOUS）胎儿的预后情况。
选取2017年7月至2021年12月在鼓楼医院产前诊断中心接受产前CMA检测的6826例胎儿作为研究对象。对产前诊断结果以及鉴定出的新发VOUS胎儿的结局进行随访。
在6826例胎儿中，506例携带VOUS，其中237例进行了亲源检测，24例为新发。在后者中，20例随访了4至24个月。4对夫妇选择了选择性流产，4例出生后出现临床表型，12例正常。
应持续随访携带VOUS的胎儿，尤其是携带新发VOUS的胎儿，以明确其临床意义。
