摘要目的 研究胎儿颅脑神经系统畸形与染色体异常的相关性.方法 收集2013年1月至2018年8月来广州医科大学附属第六医院产前诊断中心就诊的胎儿颅脑神经系统发育异常孕妇病例,采用超声及核型分析方法对胎儿进行诊断.结果 85例颅脑神经系统发育异常胎儿中共检出异常核型18例,检出率为21.18％.其中单一颅脑神经系统畸形47例,异常核型4例;颅脑神经合并其他系统畸形38例,异常核型14例,多系统畸形染色体核型异常检出率高于单一颅脑神经畸形(36.84％比8.51％),差异有统计学意义(x2=10.101,P=0.001 5).并且88.89％(16/18例)的异常核型检出集中于孕早中期(≤28周).颅脑神经合并心血管、骨骼四肢、面颈部畸形异常核型检出率分别为58.82％(10/17例)、50.00％(6/12例)和50.00％(9/18例).胎儿表型中,脉络膜丛囊肿异常核型检出率最高为64.29％,其次为蛛网膜囊肿(50.00％)、颅脑异常(45.45％)、全前脑(36.36％)等.结论 染色体非整倍体或结构异常均可导致胎儿颅脑神经系统发育异常,其中胎儿颅脑神经并心血管畸形及脉络膜丛囊肿异常核型检出率最高.

abstractsObjective To investigate the correlation between fetal cranial nervous system malformation and chromosome abnormality.Methods The pregnant women with fetal cerebral nervous system dysplasia were collected from January 2013 to August 2018 at the Prenatal Diagnostic Center of the Sixth Affiliated Hospital of Guangzhou Medical University.The fetus was diagnosed by ultrasonography and karyotype analysis.Results A total of 18 cases of abnormal karyotypes were detected from 85 patient samples,and the abnormal rates were 21.18％.Single cranial nervous system malformation was found in 47 cases,abnormal karyotypes in 4 cases,multiple system malformation in 38 cases,and abnormal karyotypes in 14 cases,and the abnormal karyotype rate of multiple system malformation was higher than that of single cranial nervous malformation (36.84％ vs.8.51％,x2 =10.101,P =0.001 5).And the 88.89％ (16/18 cases) of abnormal karyotypes were founded in the early and middle pregnancy (≤ 28 weeks).The abnormal karyotype detection rates of cranial nervous system malformation associated with cardiovascular,skeletal and limb,facial neck abnormalities were 58.82％ (10/17 cases),50.00％ (6/12 cases) and 50.00％ (9/18 cases),respectively.In the fetal phenotypes,the abnormal karyotype detection rates of choroid plexus cysts were up to 64.29％,followed by arachnoid cysts (50.00％),craniocerebral abnormalities (45.45％) and holoprosencephaly (36.36％).Conclusions Chromosomal aneuploidy or structural abnormalities can lead to abnormal development of the fetal cranial nervous system,in which the rates of abnormal karyotypes on fetal cranial nervous with cardiovascular malformation and choroid plexus cysts are the highest.