超声确诊小脑发育不良胎儿的遗传学病因:32例回顾性分析  

Genetic analysis of 32 fetuses with cerebellar hypoplasia diagnosed by prenatal ultrasound:a retrospective study

作　　者：崔玉[1] 肖建平[1] 赵丽[1] 陶荷花 石锦平[1] 刘俊[1] 杨岚[1] 袁蓉[1] Cui Yu;Xiao Jianping;Zhao Li;Tao Hehua;Shi Jinping;Liu Jun;Yang Lan;Yuan Rong(Department of Medical Genetics and Prenatal Diagnosis,Wuxi Maternity and Child Health Care Hospital(Affiliated Women's Hospital of Jiangnan University),Wuxi 214002,China)

机构地区：[1]无锡市妇幼保健院(江南大学附属妇产医院)医学遗传与产前诊断科,无锡214002

出　　处：《中华围产医学杂志》2023年第12期976-981,共6页Chinese Journal of Perinatal Medicine

基　　金：无锡市医学创新团队:围产医学创新团队(CXTD202101)。

摘　　要：目的探讨产前超声确诊小脑发育不良(cerebellar hypoplasia,CH)病例的遗传学病因。方法回顾性收集2014年1月至2022年12月在无锡市妇幼保健院超声确诊为CH的32例病例的产前超声表现和羊水遗传学检测结果。分析CH与遗传学异常的相关性。对数据资料采用描述性统计分析。结果(1)一般资料:32例孕妇年龄(28.0±4.9)岁,范围为18~37岁;羊膜腔穿刺孕周为(24.2±4.0)周,范围为18周^(+3)~37周^(+2)。30例在孕28周之前终止妊娠,1例因未婚于孕33周引产终止妊娠,1例失访。(2)超声检查情况:32例中的30例(93.8%)伴颅内外异常,主要包括心脏异常(15例)、侧脑室增宽(10例)、面部异常(9例)和四肢异常(8例)等。2例(6.2%)为单纯性CH。(3)遗传学检测结果:32例中,13例(40.6%)羊水染色体核型分析和单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)检测均未见异常。羊水检测结果异常的19例(59.4%)中,16例羊水染色体核型分析和SNP array检测结果均存在异常[9例为染色体数目异常,包括18-三体5例、21-三体3例和13-三体1例;7例为染色体结构异常,包括5号染色体末端缺失(猫叫综合征)4例和染色体相互易位3例];3例羊水染色体核型分析未见异常,但SNP array检测结果存在CNV(包括1例6q末端缺失、1例6q末端缺失同时5p15.33重复,以及1例6q末端缺失同时15q26.3重复,均为意义未明变异)。(4)SNP array检测结果异常的19例中,17例伴有颅内/外超声异常表现。其中10例表现为心脏畸形,7例表现为侧脑室增宽,7例表现为四肢异常。结论染色体数目异常、猫叫综合征和6q末端缺失是产前超声确诊CH病例的主要遗传学病因。产前超声发现胎儿CH时,应建议行染色体微阵列分析,以准确评估胎儿预后。Objective To explore the genetic causes of cerebellar hypoplasia(CH)diagnosed by prenatal ultrasound.Methods This retrospective study involved 32 fetuses with CH diagnosed by prenatal ultrasound in Wuxi Maternal and Child Health Hospital from January 2014 to December 2022.Prenatal ultrasound findings and genetic testing results for amniotic fluid were collected and analyzed.The correlation between fetal CH and genetic abnormality was analyzed.A descriptive statistical method was used for data analysis.Results(1)General data:The 32 mothers were(28.0±4.9)years old,ranging from 18 to 37 years old;the gestational age at amniocentesis was(24.2±4.0)weeks,ranging from 18^(+3) weeks to 37^(+2) weeks.Apart from one case lost to follow-up,the other 31 cases terminated the pregnancies,including 30 terminated before 28 weeks of gestation and one at 33 weeks of gestation due to unmarried status.(2)Ultrasonic features:Among the 32 cases,30(93.8%)were complicated by intracranial or extracranial abnormalities including cardiac abnormalities(15 cases),dilated lateral ventricles(ten cases),and abnormalities in limbs(eight cases)and face(nine cases).Two CH cases(6.2%)were isolated.(3)Genetic testing:Among the 32 cases,13 cases(40.6%)had normal results of amniotic fluid karyotype analysis and single nucleotide polymorphism(SNP)array.Among the 19 cases with abnormal amniotic fluid test results(59.4%),16 cases have abnormal results in amniotic fluid karyotype analysis and SNP array detection[nine cases were numerical abnormalities,including five cases of trisomy-18,three of trisomy-21,and one of trisomy-13;seven cases were chromosomal structural abnormalities,including four cases of terminal deletion of chromosome 5(Cri-du-Chat syndrome)and three cases of reciprocal translocation of chromosomes].There was no abnormality in karyotype analysis of amniotic fluid in three cases.Still,their SNP array test results showed copy number variations(CNV)[one of 6q terminal deletion,one of 6q terminal deletion with 5p15.33 duplication,and one of

关 键 词：小脑 发育障碍 神经系统畸形 超声检查 产前 微阵列分析 核型分析 回顾性研究 

分 类 号：R714.5[医药卫生—妇产科学]