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目的:探讨脉络丛囊肿胎儿的染色体产前诊断和妊娠结局情况,为遗传咨询及优生优育提供临床建议。方法:收集2010年1月至2013年12月因胎儿脉络丛囊肿进行胎儿染色体产前诊断的127例单胎孕妇,进行染色体分析后定期超声观察并随访至分娩后。结果:127例脉络丛囊肿病例中,根据脉络丛囊肿直径大小、位置、数目及是否合并其他超声检查异常分组。单侧组58例,双侧组69例;单发组51例,多发组76例;孤立性脉络丛囊肿117例,复杂性脉络丛囊肿10例。染色体异常6例,其中4例为18-三体。染色体正常的121例胎儿脉络丛囊肿中,119例于孕28周消失,有2例于孕32周消失。7例引产,失访15例,最终随访到105例新生儿。结论:胎儿脉络丛囊肿若合并超声其它结构的异常或超声“软指标”异常时,胎儿染色体异常的风险性增加,其中18-三体较常见。在排除染色体核型异常及结构畸形后,脉络丛囊肿胎儿的妊娠结局良好。
Objective: To investigate the chromosomal prenatal diagnosis and pregnancy outcome in choroid plexus fetuses, and provide clinical advice for genetic counseling and prenatal and postnatal care. Methods: A total of 127 singleton pregnancies diagnosed by fetal choroid plexus cysts from January 2010 to December 2013 were collected. The chromosomes were analyzed by regular ultrasound and followed up until delivery. Results: Of 127 cases of choroid plexus cysts, the size, location, number of choroid plexus cysts, and the presence or absence of other ultrasonographic abnormalities were compared. 58 cases in unilateral group, 69 cases in bilateral group; 51 cases in single group and multiple group in 76 cases; 117 cases of solitary choroid plexus and 10 cases of complex choroid plexus cyst. Chromosomal abnormalities in 6 cases, of which 4 cases of 18-trisomy. Of the 121 normal fetal chromophobe fetuses, 119 disappeared at 28 weeks of gestation and 2 disappeared at 32 weeks of gestation. 7 cases of induced labor, lost to 15 cases, the final follow-up to 105 cases of newborns. CONCLUSION: Fetal choroid plexus cysts are associated with an increased risk of fetal chromosomal abnormalities when combined with abnormalities in other structures of the ultrasound or ultrasonographic “soft index” abnormalities, of which 18-trisomy is more common. Exclusion of chromosomal abnormalities and structural abnormalities, choroid cyst cyst fetus pregnancy outcome is good.