16p11.2微缺失综合征胎儿产前诊断及预后分析  

Prenatal diagnosis and prognosis analysis of 16p11.2 microdeletion syndrome fetus

作　　者：佟玉龙 潘虹[2] 于丽[1] 付杰[1] 卫凯平 王雪茵[1] 杨慧霞[1] TONG Yulong;PAN Hong;YU Li;FU Jie;WEI Kaiping;WANG Xueyin;YANG Huixia(Department of Obstetrics&Gynecology and Reproductive Medicine,Peking University First Hospital,Beijing 100034,China;Department of Central Laboratory,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院妇产生殖医学中心,北京100034 [2]北京大学第一医院实验中心,北京100034

出　　处：《中国优生与遗传杂志》2024年第12期2581-2585,共5页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(82103907)。

摘　　要：目的分析16p11.2微缺失胎儿基因型、宫内表型、妊娠结局及预后。方法回顾2017年5月至2024年4月在北京大学第一医院妇产科通过染色体微阵列分析(CMA)确诊的16p11.2微缺失病例,分析产前诊断指征和结果、超声表型、妊娠结局并预后随访。结果共发现13例16p11.2微缺失胎儿,检出率0.08%,均为典型致病性缺失,1例合并21-三体综合征。中孕期超声结构异常(6/13,46.15%)是最主要的产前诊断指征。7例胎儿中孕期排畸超声提示结构异常,包括脊柱(4/7)、脑(3/7)、心脏(2/7)和肾脏(2/7)等部位,其中4例存在多系统异常。9例进行家系溯源,7例为新生变异,父系和母系遗传各1例。8例孕妇终止妊娠;5例足月分娩,其中3例(>3岁)存在语言发育落后,2例(<18月龄)未见异常。结论16p11.2微缺失综合征胎儿存在宫内表型异质性,以脊柱畸形最为常见和特异。产前诊断和产前超声的全面动态评估对于临床决策具有重要意义。对于宫内表型未见异常胎儿,出生后可能面临语言发育落后风险,应定期专业评估。Objective To analyze the genotype,intrauterine phenotype,pregnancy outcomes and prognosis of fetuses with 16p11.2 microdeletion.Methods A retrospective analysis was conducted on 16p11.2 microdeletion cases detected by chromosomal microarray analysis(CMA)in prenatal diagnosis from May 2017 to April 2024 at the Department of Obstetrics&Gynecology,Peking University First Hospital.Prenatal diagnosis indication and results,ultrasound phenotypes,pregnancy outcomes and follow-up results were analyzed.Results 13 cases of 16p11.2 microdeletion fetuses were diagnosed,representing a detection rate of 0.08%.All cases were typical pathogenic deletions and 1 case had an additional trisomy 21.Abnormal ultrasound structure in middle pregnancy(6/13,46.15%)is the most important indication for prenatal diagnosis.7 cases of prenatal ultrasound showed structural abnormalities,including spine(4/7),brain(3/7),cardiac(2/7)and kidneys(2/7),among which 4 cases had multiple system abnormalities.9 cases were traced,7 cases were de novo mutations,1 case was paternal inheritance and 1 case was maternal inheritance.8 cases resulted in termination of pregnancy.5 cases had normal delivery.Among them,3 cases(>3 years old)had varying degrees of language developmental delay,and 2 cases(<18 months old)showed no abnormalities.Conclusion There is heterogeneity in the intrauterine phenotype of 16p11.2 microdeletion syndrome fetuses,and spinal anomalies is the most common and specific.Genetic diagnosis and dynamic assessment by prenatal ultrasound are of great importance for clinical decision-making.For fetuses with no intrauterine abnormality,they may face potential risks of language development delay after birth,and should be professional evaluated regularly.

关 键 词：16p11.2微缺失 产前诊断 宫内表型 染色体微阵列分析 预后 

分 类 号：R714.5[医药卫生—妇产科学]