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目的:探讨产前超声检查对胎儿前脑无裂畸形(Holoprosencephaly,HPE)诊断的价值。方法:对我院产前超声检查中发现的34例胎儿前脑无裂畸形超声声像图特征及产后结果进行回顾性分析。结果:34例前脑无裂畸形胎儿中无叶HPE 21例,产前超声表现为单一脑室,丘脑融合,脑中线结构消失;半叶HPE 5例,产前超声表现为单一脑室,丘脑部分融合,可见部分脑中线;叶状HPE 8例,产前超声表现为无透明隔腔,侧脑室前角融合。34例前脑无裂畸形胎儿中合并单发或多发畸形29例,其中颜面部畸形23例,心脏畸形8例,肾脏异常4例,脊柱裂1例,肢体异常6例,全身水肿3例,单脐动脉6例,脐带囊肿1例,胃泡显示不清2例,羊水过多5例,羊水过少2例。34例中10例行染色体核型分析检查,结果 3例13-三体,1例18-三体,1例染色体部分缺失,5例染色体核型正常。结论:产前超声检查对胎儿前脑无裂畸形具有较高的诊断价值,降低严重缺陷儿出生率,对临床诊断有重要意义。
Objective: To investigate the value of prenatal ultrasound examination in the diagnosis of anterior fetal brain malformation (Holoprosencephaly, HPE). Methods: A retrospective analysis was performed on the characteristics of 34 cases of anterior fetal brain anaphylactoid ultrasonography and postpartum findings in prenatal ultrasound examination in our hospital. Results: There were 21 cases of unprotected HPE in 34 cases of anterior segment malformation fetus. The prenatal ultrasound manifestations were single ventricle, thalamus fusion and disappearance of the midline structure. In the half HPE, 5 cases showed prenatal ultrasound with single ventricle and thalamus partially fused , Visible part of the midline; leaflet HPE 8 cases, prenatal ultrasound showed no transparent compartment, lateral anterior chamber fusion. There were 29 cases with single or multiple deformities in 34 cases of anterior segment malformation fetuses, including 23 cases of facial deformity, 8 cases of cardiac malformation, 4 cases of abnormal kidney, 1 case of spina bifida, 6 cases of limb abnormalities, 3 cases of systemic edema, Single umbilical artery in 6 cases, umbilical cord cyst in 1 case, 2 cases showed unclear gastritis, polyhydramnios in 5 cases, oligohydramnios in 2 cases. Chromosome karyotype analysis was performed in 10 of 34 cases. The results showed that 3 cases of 13-trisomy, 1 case of 18-trisomy, 1 case of chromosome missing, 5 cases of normal karyotype. Conclusion: Prenatal ultrasonography has a high diagnostic value on the fetal anterior segment of the anterior segment of the brain and reduces the birth rate of severe defect, which is of great significance for clinical diagnosis.