胎儿侧脑室增宽产前诊断及临床预后

Prenatal diagnosis and clinical prognosis of fetal lateral ventriculomegaly

目的:探讨侧脑室增宽胎儿的产前诊断结果及临床预后,为临床遗传咨询提供依据。方法:对124例侧脑室增宽胎儿行产前诊断核型分析,并定期超声复查胎儿发育情况,电话随访妊娠结局及胎儿出生后生长发育状况。结果:124例侧脑室增宽胎儿中,染色体核型异常者11例,占8.9%。113例轻度侧脑室增宽胎儿中,染色体异常9例,占8.0%,脑积水11例胎儿中,染色体异常2例,占18.2%。51例孤立性侧脑室增宽胎儿中,染色体异常2例,占3.9%;73例非孤立性侧脑室增宽胎儿中染色体异常9例,占12.3%,其中侧脑室增宽合并超声结构异常的46例胎儿中染色体异常7例(15.2%),合并染色体异常软标记的27例中染色体异常2例(7.4%)。成功随访105例,其中终止妊娠32例,活产73例;73例活产儿中4例出生后出现生长发育异常或窒息死亡,其余69例产后生长发育未见明显异常,其中50例产前超声检查侧脑室宽度已恢复正常或较前缩小。结论:染色体异常是导致胎儿侧脑室增宽的重要原因;轻度侧脑室增宽不伴有超声结构严重异常并排除染色体畸变时大多数胎儿预后良好,但应定期超声监测侧脑室宽度及是否出现其他器官结构异常;侧脑室增宽合并超声结构异常时,染色体畸变率明显增加。超声发现胎儿侧脑室增宽时,应仔细扫查胎儿其他部位有无结构异常,并进行产前诊断染色体核型分析,避免严重缺陷儿出生。

Objective： To study the results of prenatal diagnosis and clinical prognosis of fetal lateral ventriculomegaly, and pro- vide basis for clinical genetic counseling. Methods： 124 cases of lateral ventriculomegaly were given fetal prenatal diagnosis karyotype analy- sis, and fetal development were regularly inspected by ultrasound examination, telephone follow - up were conducted with outcomes of preg- nancy and fetal postnatal conditions. Results： In 124 cases of lateral ventriculomegaly fetal, there were 11 abnormal chromosome karyotype, accounted for 8.9%. 9 cases chromosome abnormality in 113 cases of mild fetal lateral ventriculomegaly, accounted for 8.0% , 2 cases of chromosomal abnormality in 11 cases of fetal hydrocephalus , accounted for 18. 2%. 2 cases chromosome abnormality in 51 cases of solitary lateral ventriculomegaly, accounted for 3.9% ; 9 cases chromosome abnormality in 73 cases were not isolated fetal lateral ventriculomegaly, accounted for 12. 3%, there were 7 cases （ 15.2% ） chromosome abnormality in the 46 cases of lateral ventriculomegaly associated with ul- trasonic structural abnormalities, and 2 cases （7.4%） chromosome abnormality in 27 cases associated with soft marker chromosome abnor- mality. Successfully follow - up was in 105 cases, 32 cases of pregnancy termination, live births in 73 cases, including 4 cases with devel- opmental anomaly or suffocation death, the remaining 69 cases of postpartum growth had no obvious abnormalities, including 50 cases of pre- natal ultrasound examination of lateral ventricle width had returned to normal or decreased. Conclusion： Chromosome abnormality is an im- portant cause of fetal lateral ventriculomegaly; mild fetal lateral ventriculomegaly is not accompanied by other serious structural anomalies and the exclusion of chromosome aberration when most of the fetal prognosis is good, but should be regularly ultrasonic monitoring of the width of the lateral ventricles and whether there is abnormal structure in other organs ; lateral ventriculomegaly associated with abnormalities, probabil- ity of chromosome aberration increased significantly. When we find fetal lateral ventriculomegaly, we should carefully scan other parts of fetus whether there is structural abnormality, and analyse the prenatal diagnosis of chromosome karyotype, avoid serious birth defects.