CAJ | 학술논문

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82777例胎儿（82773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8.2/10000（68/82777）；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+～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＜P＜0.5）。48例胎儿接受绒毛、羊水或脐血染色体检查，34例伴发染色体异常，染色体异常发生率为70.8%（34/48）。8例单一前脑无裂畸形伴发染色体异常2例，染色体异常发生率为25.0%（2/8），40例前脑无裂畸形合并其他结构畸形伴发染色体异常32例，染色体异常发生率为80.0%（32/40），二者比较差异有统计学意义（U＝7.28，P＜0.01）。结论前脑无裂畸形影像诊断中，在早孕期，超声具有独特的优势，在中孕期以后，超声具有与MRI同样的优势；不同类型前脑无裂畸形具有其特殊超声声像图表现，畸形严重程度与前脑无裂畸形类型有关；前脑无裂畸形胎儿染色体异常发生率较高，合并其他结构畸形时染色体异常发生率显著高于单一前脑无裂畸形胎儿。目的：探討胎兒前腦無裂畸形的超聲類型及其聲像圖特徵。方法收集超聲診斷為前腦無裂畸形胎兒及部分接受MRI檢查胎兒的完整資料，與產後新生兒特殊檢查或引產後尸體解剖及病理檢查結果相比較，分析總結其超聲類型及聲像圖特徵。併對其絨毛、羊水或臍血染色體檢查結果進行分析，新生兒隨訪至齣生後6箇月，追蹤其預後。結果本組82777例胎兒（82773例孕婦）中超聲共檢齣68例前腦無裂畸形，前腦無裂畸形檢齣率為8.2/10000（68/82777）；漏診及誤診各1例葉狀前腦無裂畸形（產後新生兒頭顱綵超覈實），超聲診斷前腦無裂畸形的診斷符閤率97.1%（68/70）。其中14例于孕10+～13+週行超聲檢查時檢齣，54例于孕16+～40週行常規超聲檢查時檢齣。39例胎兒接受MRI檢查，MRI診斷無葉前腦無裂畸形11例、半葉前腦無裂畸形19例、葉狀前腦無裂畸形6例，漏診3例葉狀前腦無裂畸形，MRI 診斷前腦無裂畸形的診斷符閤率為92.3%（36/39），與超聲比較，差異無統計學意義（χ2＝0.96，0.25＜P＜0.5）。48例胎兒接受絨毛、羊水或臍血染色體檢查，34例伴髮染色體異常，染色體異常髮生率為70.8%（34/48）。8例單一前腦無裂畸形伴髮染色體異常2例，染色體異常髮生率為25.0%（2/8），40例前腦無裂畸形閤併其他結構畸形伴髮染色體異常32例，染色體異常髮生率為80.0%（32/40），二者比較差異有統計學意義（U＝7.28，P＜0.01）。結論前腦無裂畸形影像診斷中，在早孕期，超聲具有獨特的優勢，在中孕期以後，超聲具有與MRI同樣的優勢；不同類型前腦無裂畸形具有其特殊超聲聲像圖錶現，畸形嚴重程度與前腦無裂畸形類型有關；前腦無裂畸形胎兒染色體異常髮生率較高，閤併其他結構畸形時染色體異常髮生率顯著高于單一前腦無裂畸形胎兒。
목적：탐토태인전뇌무렬기형적초성류형급기성상도특정。방법수집초성진단위전뇌무렬기형태인급부분접수MRI검사태인적완정자료，여산후신생인특수검사혹인산후시체해부급병리검사결과상비교，분석총결기초성류형급성상도특정。병대기융모、양수혹제혈염색체검사결과진행분석，신생인수방지출생후6개월，추종기예후。결과본조82777례태인（82773례잉부）중초성공검출68례전뇌무렬기형，전뇌무렬기형검출솔위8.2/10000（68/82777）；루진급오진각1례협상전뇌무렬기형（산후신생인두로채초핵실），초성진단전뇌무렬기형적진단부합솔97.1%（68/70）。기중14례우잉10+～13+주행초성검사시검출，54례우잉16+～40주행상규초성검사시검출。39례태인접수MRI검사，MRI진단무협전뇌무렬기형11례、반협전뇌무렬기형19례、협상전뇌무렬기형6례，루진3례협상전뇌무렬기형，MRI 진단전뇌무렬기형적진단부합솔위92.3%（36/39），여초성비교，차이무통계학의의（χ2＝0.96，0.25＜P＜0.5）。48례태인접수융모、양수혹제혈염색체검사，34례반발염색체이상，염색체이상발생솔위70.8%（34/48）。8례단일전뇌무렬기형반발염색체이상2례，염색체이상발생솔위25.0%（2/8），40례전뇌무렬기형합병기타결구기형반발염색체이상32례，염색체이상발생솔위80.0%（32/40），이자비교차이유통계학의의（U＝7.28，P＜0.01）。결론전뇌무렬기형영상진단중，재조잉기，초성구유독특적우세，재중잉기이후，초성구유여MRI동양적우세；불동류형전뇌무렬기형구유기특수초성성상도표현，기형엄중정도여전뇌무렬기형류형유관；전뇌무렬기형태인염색체이상발생솔교고，합병기타결구기형시염색체이상발생솔현저고우단일전뇌무렬기형태인。
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 the conformity 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 comparison of the two, the difference has statistical significance (U=7.28,P<0.01). Conclusions In imaging diagnosis, in the first-trimester, ultrasound has a unique advantage for holoprosencephaly. In the second-trimester and third-trimester, ultrasound has the same advantage with MRI. Different types of holoprosencephaly has its special sonographic appearance, malformation severity has some connection with the type of holoprosencephaly. Holoprosencephaly fetal associated with higher chromosomal abnormalities, the rate of holoprosencephaly fetal combined with other structural malfomations associated with chromosomal abnormalities was significant higher than the fetal holoprosencephaly single.