超声与MRI诊断胎儿前脑无裂畸形的比较

目的探讨胎儿前脑无裂畸形的超声类型及其声像图特征。方法收集超声诊断为前脑无裂畸形胎儿及部分接受MRI检查胎儿的完整资料,与产后新生儿特殊检查或引产后尸体解剖及病理检查结果相比较,分析总结其超声类型及声像图特征。并对其绒毛、羊水或脐血染色体检查结果进行分析,新生儿随访至出生后6个月,追踪其预后。结果本组82 777例胎儿(82 773例孕妇)中超声共检出68例前脑无裂畸形,前脑无裂畸形检出率为8.2/10 000(68/82 777);漏诊及误诊各1例叶状前脑无裂畸形(产后新生儿头颅彩超核实),超声诊断前脑无裂畸形的诊断符合率97.1%(68/70)。其中14例于孕10+¹3+周行超声检查时检出,54例于孕16+13+周行超声检查时检出,54例于孕16+⁴0周行常规超声检查时检出。39例胎儿接受MRI检查,MRI诊断无叶前脑无裂畸形11例、半叶前脑无裂畸形19例、叶状前脑无裂畸形6例,漏诊3例叶状前脑无裂畸形,MRI诊断前脑无裂畸形的诊断符合率为92.3%(36/39),与超声比较,差异无统计学意义(χ2=0.96,0.25

Comparison of ultrasound and MRI in the diagnosis of holoprosencephaly in fetuses

ObjectiveTo investigate holoprosencephaly ultrasonic types and sonographic features of malformation.MethodsTo collect the complete data of ultrasound diagnosis for fetal holoprosencephaly and part of the MRI examination of fetus. Compared with postpartum neonatal special inspection results or the corpse and anatomical and pathological examination results after induced labor, to analyse the ultrasound and sonographic features. And chorionic villus sampling or the amniotic fluid or blood chromosome examination results were analyzed. The newborns were followed up to 6 months after birth, tracking the prognosis.Results Totally 68 fetuses among 82 777 fetuses （82 773 pregnant women） were detected with holoprosencephaly, the accidence was 8.2/10 000 （68/82 777）. Missedly diagnosed and misdiagnosis 1 case phyllodes holoprosencephaly respectively （postpartum neonatal cranial ultrasound confirmed）, so the conformity rate was 97.1% （68/70）. Among them 14 cases were found during pregnant 10＋-13＋ weeks, and 54 cases were detected during 16＋-40 weeks. 39 fetuses underwent MRI, 11 cases of non holoprosencephaly, 19 cases semilobar holoprosencephaly and 6 cases phyllodes holoprosencephaly were diagnosed through MRI, missed diagnosis of 3 cases of phyllodes holoprosencephaly, so theconformity rate was 92.3% （36/39）. To compared with ultrasound, the difference was no significance （χ2=0.96, 0.25〈P〈0.5）. 48 cases holoprosencephaly were given chorionic villus sampling or the amniotic fluid or blood chromosome examination, 34 cases associated with chromosome abnormality, so the rate of which was 70.8%, including 14 cases non holoprosencephaly, 16 cases semilobar holoprosencephaly, 4 cases phyllodes holoprosencephaly. 8 cases single holoprosencephaly associated with chromosome abnormality in 2 cases, so the rate of which was 25.0% （2/8）. 40 cases holoprosencephaly complicated with other malformations associated with chromosome abnormality in 32 cases, so the rate of which was 80.0% （32/40）, a