染色体17q12微缺失和微重复胎儿的产前诊断及妊娠结局  

Prenatal diagnosis and outcomes of 17q12 microdeletion and microduplication

作　　者：周冉[1] 王艳[1] 孟露露[1] 许伊云 焦娇[1] 李一鸣 胡平[1] 许争峰[1] Zhou Ran;Wang Yan;Meng Lulu;Xu Yiyun;Jiao Jiao;Li Yiming;Hu Ping;Xu Zhengfeng(Department of Prenatal Diagnosis,Women's Hospital of Nanjing Medical University(Nanjing Maternity and Child Health Care Hospital),Nanjing 210004,China)

机构地区：[1]南京医科大学附属妇产医院(南京市妇幼保健院)产前诊断中心,南京210004

出　　处：《中华围产医学杂志》2024年第1期33-39,共7页Chinese Journal of Perinatal Medicine

基　　金：国家重点研发计划(2022YFC2703400)。

摘　　要：目的探讨染色体17q12微缺失和微重复胎儿的产前超声特点和妊娠结局。方法回顾性收集2018年1月至2022年12月在南京市妇幼保健院行介入性产前诊断经染色体微阵列分析诊断为17q12微缺失的胎儿14例和17q12微重复的胎儿3例。同时检索PubMed、Embase、中国知网、万方数据库及中华医学期刊全文数据库, 检索词为"17q12微缺失""17q12微重复""产前诊断""妊娠结局"及其对应的英文检索词, 检索时间截至2023年2月1日。结合检索到的产前诊断病例(17q12微缺失84例和17q12微重复14例), 分析胎儿的产前超声表现, 并对妊娠结局进行总结。结果本院及检索的病例共98例17q12微缺失胎儿和17例17q12微重复胎儿。(1)17q12微缺失:胎儿产前超声均表现出肾脏异常(100.0%, 98/98), 其中81.6%(80/98)表现出肾脏回声增强;父母溯源提示74.2%(49/66)为新发;64.1%(41/64)终止妊娠, 35.9%(23/64)继续妊娠;对12例活产儿进行随访, 8例存在不同程度的异常, 余4例随访时均无明显异常。(2)17q12微重复:10例胎儿表现为上消化道梗阻;父母溯源提示4/13为新发;14例获知妊娠结局病例中, 9例终止妊娠, 另5例继续妊娠至分娩。对活产儿进行随访发现4例未见异常, 1例活产儿经手术后预后良好。结论 17q12微缺失胎儿常表现为肾脏回声增强, 多为新发变异, 多数预后不良。17q12微重复胎儿常表现为上消化道梗阻, 多遗传自父母。Objective To analyze the prenatal characteristics and pregnancy outcomes of fetuses with 17q12 microdeletion or microduplication.Methods From January 2018 to December 2022,14 fetuses diagnosed with 17q12 microdeletion and three with 17q12 microduplication by chromosomal microarray analysis folloning invasive prenatal diagnostic techniques at Nanjing Maternity and Child Health Care Hospital were retrospectively enrolled in this study.Relevant articles up to February 1,2023,were retrieved from PubMed,Embase,China National Knowledge Infrastructure,Wanfang database,and Yiigle with the terms"17q12 microdeletion","17q12 microduplication","prenatal diagnosis",and"pregnancy outcome".Eighty-four 17q12 microdeletion cases and fourteen 17q12 microduplication cases were retrieved.Prenatal ultrasound features and pregnancy outcomes of those fetuses were analyzed and summarized.Results In this study,ninety-eight 17q12 microdeletion cases and seventeen 17q12 microduplication cases were analyzed.(1)17q12 microdeletion:The prenatal ultrasound showed all the 17q12 microdeletion cases had renal abnormalities(100.0%,98/98),and renal hyperechogenicity was detected in 81.6%(80/98)of them;pedigree analysis suggested that 74.2%(49/66)mutations were de novo;64.1%(41/64)of pregnant women chose to terminate the pregnancy and 35.9%(23/64)chose to continue pregnancy;eight out of 12 live births who were followed up had different degrees of abnormalities and four were normal during the follow-up period.(2)17q12 microduplication:Among the 17 fetuses,10 had upper gastrointestinal obstruction;pedigree analysis suggested that four were de novo mutations(4/13);nine out of 14 pregnant women with reported pregnancy outcomes chose to terminate the pregnancy,and five continued the pregnancy to delivery;follow up of the live births found that four neonates were normal and one had a good prognosis after surgery.Conclusions Fetuses with 17q12 microdeletion often show renal hyperechogenicity in ultrasound images,and most mutations were de novo with poor pr

关 键 词：产前诊断 17q12微缺失 17q12微重复 妊娠结局 

分 类 号：R714.5[医药卫生—妇产科学]