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目的讨论产前超声筛查胎儿神经系统先天发育异常不同类型的构成比及妊娠结局。方法对2014年2月—2017年2月参加唐山市妇幼保健院产前筛查多学科会诊的孕妇进行分析,将其中胎儿神经系统发育异常的病例纳入研究,回顾性分析其不同异常类型的构成,进一步分析其妊娠结局。结果在2100例参加多学科会诊的孕妇中筛查出胎儿神经系统发育异常的316例进行分析,其中侧脑室增宽123例,颅后窝池增宽58例,脉络丛囊肿48例,小脑病变32例,第五、六脑室增宽25例,神经管畸形10例,脑发育不良10例,胼胝体发育不良6例,蛛网膜囊肿4例。失访30例,脑积水或侧脑室扩张终止妊娠25例,其中合并无创产前DNA检测阳性2例,合并脑室出血1例,合并胼胝体发育不良2例,颅后窝池增宽终止妊娠3例,脉络丛囊肿合并18,三体高风险终止妊娠3例,脊柱裂合并脑积水终止妊娠3例,小脑发育不良中Dandy-walker综合征终止妊娠5例、自然流产1例,其他小脑病变6例终止妊娠、死产1例,胼胝体发育不良终止妊娠5例,脑发育不良10例均终止妊娠,第五、六脑室增宽合并颅骨内肿瘤终止妊娠1例。结论通过产前超声筛查,结合磁共振、无创产前DNA检测等检查,对严重畸形儿、染色体病患儿,及时终止妊娠,有效控制先天发育异常患儿的出生率,降低出生缺陷,同时减少过度引产。
Objective To discuss prenatal ultrasound screening of fetal nervous system congenital abnormalities of different types of constitutional ratio and pregnancy outcomes. Methods From February 2014 to February 2017, pregnant women who participated in prenatal screening multidisciplinary consultation in Tangshan Maternal and Child Health Hospital were enrolled. Cases of abnormal fetal nervous system development were included in the study, and their different abnormal types were retrospectively analyzed , Further analysis of its pregnancy outcome. Results Among the 2100 pregnant women who participated in the multidisciplinary consultation, 316 cases of fetal neurological dysfunctions were screened out, including 123 cases of widened lateral ventricle, 58 cases of widened posterior fossa sac, 48 cases of choroid plexus cyst, 32 cases, the fifth and sixth ventricular enlargement in 25 cases, 10 cases of neural tube defects, brain dysplasia in 10 cases, corpus callosum dysplasia in 6 cases, 4 cases of arachnoid cysts. 30 cases were lost to follow-up, hydrocephalus or termination of lateral ventricle dilatation in 25 cases, of which 2 cases were positive with noninvasive prenatal DNA test, 1 case was complicated by ventricular hemorrhage, 2 cases were associated with dysplasia of the corpus callosum, Cases, choroid plexus cysts and 18, three high risk termination of pregnancy in 3 cases, spina bifida combined hydrocephalus termination of pregnancy in 3 cases, cerebellar dysplasia Dandy-walker syndrome termination of pregnancy in 5 cases, 1 case of natural abortion and other cerebellar lesions 6 One case of termination of pregnancy, stillbirth, corpus callosum hypoplasia termination of pregnancy in 5 cases, 10 cases of brain dysplasia were termination of pregnancy, the fifth and sixth ventricle widening with skull tumor termination of pregnancy in 1 case. Conclusion Prenatal ultrasound screening, combined with MRI, noninvasive detection of prenatal DNA and other tests for children with severe deformity, chromosomal disorders, termination of pregnancy in time, effectively control the birth rate of children with congenital dysplasia, reduce birth defects, while reducing Overinduction of labor.