CAJ | 학술논문

目的：总结胎儿单纯腭裂及合并畸形产前超声声像图特征，并分析产前超声误漏诊胎儿单纯腭裂的原因。方法应用二维及三维超声对3598例胎儿进行系统检查，采用鼻唇冠状切面、经上颌骨横切面、正中矢状切面、经口裂斜冠状切面对胎儿唇腭部行重点观察，对伴发畸形进行筛查，并与产后或引产后检查结果进行对照分析。结果3598例胎儿产前超声检出单纯腭裂11例（0.31%，11/3598），胎儿单纯腭裂超声声像图表现：（1）Ⅰ°腭裂1例，正中矢状切面声像图显示腭中缝强回声线消失，其上下黏膜仍完整，经口裂硬腭斜冠状切面显示硬腭连续中断，经口裂软腭斜冠状切面显示软腭完整连续，腭垂不能显示。（2）Ⅱ°腭裂3例，经下颌正中矢状切面声像图显示硬腭中缝强回声线变短，后半部分和中线部软腭消失，两侧旁正中矢状切面仍可显示硬腭弧形强回声线，长于腭中缝强回声线，经口裂硬腭斜冠状切面显示硬腭前部强回声线连续，后部强回声线正中出现连续中断，经口裂软腭斜冠状切面显示软腭中线部连续中断。三维容积数据分析显示硬腭前份完整，后份及软腭中线部连续中断。（3）Ⅲ°腭裂7例，正中矢状切面声像图显示腭中缝强回声线消失，经口裂硬腭斜冠状切面显示硬腭中线部连续中断，经口裂软腭斜冠状切面显示软腭中线部回声连续中断，口鼻腔相通，自口腔可显示鼻中隔下缘犁骨强回声。三维容积数据分析显示硬腭和软腭连续中断，自口腔可清晰显示鼻中隔下缘的犁骨强回声。产后及引产后围产儿检查证实产前超声误诊2例（0.06%，2/3598），漏诊1例单纯腭裂（8.33%，1/12）。胎儿单纯腭裂发生率为0.33%（12/3598）。12例单纯腭裂胎儿中11例合并其他部位畸形，合并畸形部位1~6个，以单纯腭裂合并中枢神经系统畸形（6/12）、小下颌（6/12）、泌尿系畸形（5/12）最多见。2例胎儿合并羊水过多，1例胎儿无羊水。结论系统产科超声检查将胎儿继发腭作为常规检测项目进行规范化检查，在成功获取继发腭显像的胎儿中可以检出单纯腭裂。产前诊断单纯腭裂有利于孕妇进行全面的产前咨询及遗传风险评估。目的：總結胎兒單純腭裂及閤併畸形產前超聲聲像圖特徵，併分析產前超聲誤漏診胎兒單純腭裂的原因。方法應用二維及三維超聲對3598例胎兒進行繫統檢查，採用鼻脣冠狀切麵、經上頜骨橫切麵、正中矢狀切麵、經口裂斜冠狀切麵對胎兒脣腭部行重點觀察，對伴髮畸形進行篩查，併與產後或引產後檢查結果進行對照分析。結果3598例胎兒產前超聲檢齣單純腭裂11例（0.31%，11/3598），胎兒單純腭裂超聲聲像圖錶現：（1）Ⅰ°腭裂1例，正中矢狀切麵聲像圖顯示腭中縫彊迴聲線消失，其上下黏膜仍完整，經口裂硬腭斜冠狀切麵顯示硬腭連續中斷，經口裂軟腭斜冠狀切麵顯示軟腭完整連續，腭垂不能顯示。（2）Ⅱ°腭裂3例，經下頜正中矢狀切麵聲像圖顯示硬腭中縫彊迴聲線變短，後半部分和中線部軟腭消失，兩側徬正中矢狀切麵仍可顯示硬腭弧形彊迴聲線，長于腭中縫彊迴聲線，經口裂硬腭斜冠狀切麵顯示硬腭前部彊迴聲線連續，後部彊迴聲線正中齣現連續中斷，經口裂軟腭斜冠狀切麵顯示軟腭中線部連續中斷。三維容積數據分析顯示硬腭前份完整，後份及軟腭中線部連續中斷。（3）Ⅲ°腭裂7例，正中矢狀切麵聲像圖顯示腭中縫彊迴聲線消失，經口裂硬腭斜冠狀切麵顯示硬腭中線部連續中斷，經口裂軟腭斜冠狀切麵顯示軟腭中線部迴聲連續中斷，口鼻腔相通，自口腔可顯示鼻中隔下緣犛骨彊迴聲。三維容積數據分析顯示硬腭和軟腭連續中斷，自口腔可清晰顯示鼻中隔下緣的犛骨彊迴聲。產後及引產後圍產兒檢查證實產前超聲誤診2例（0.06%，2/3598），漏診1例單純腭裂（8.33%，1/12）。胎兒單純腭裂髮生率為0.33%（12/3598）。12例單純腭裂胎兒中11例閤併其他部位畸形，閤併畸形部位1~6箇，以單純腭裂閤併中樞神經繫統畸形（6/12）、小下頜（6/12）、泌尿繫畸形（5/12）最多見。2例胎兒閤併羊水過多，1例胎兒無羊水。結論繫統產科超聲檢查將胎兒繼髮腭作為常規檢測項目進行規範化檢查，在成功穫取繼髮腭顯像的胎兒中可以檢齣單純腭裂。產前診斷單純腭裂有利于孕婦進行全麵的產前咨詢及遺傳風險評估。
목적：총결태인단순악렬급합병기형산전초성성상도특정，병분석산전초성오루진태인단순악렬적원인。방법응용이유급삼유초성대3598례태인진행계통검사，채용비진관상절면、경상합골횡절면、정중시상절면、경구렬사관상절면대태인진악부행중점관찰，대반발기형진행사사，병여산후혹인산후검사결과진행대조분석。결과3598례태인산전초성검출단순악렬11례（0.31%，11/3598），태인단순악렬초성성상도표현：（1）Ⅰ°악렬1례，정중시상절면성상도현시악중봉강회성선소실，기상하점막잉완정，경구렬경악사관상절면현시경악련속중단，경구렬연악사관상절면현시연악완정련속，악수불능현시。（2）Ⅱ°악렬3례，경하합정중시상절면성상도현시경악중봉강회성선변단，후반부분화중선부연악소실，량측방정중시상절면잉가현시경악호형강회성선，장우악중봉강회성선，경구렬경악사관상절면현시경악전부강회성선련속，후부강회성선정중출현련속중단，경구렬연악사관상절면현시연악중선부련속중단。삼유용적수거분석현시경악전빈완정，후빈급연악중선부련속중단。（3）Ⅲ°악렬7례，정중시상절면성상도현시악중봉강회성선소실，경구렬경악사관상절면현시경악중선부련속중단，경구렬연악사관상절면현시연악중선부회성련속중단，구비강상통，자구강가현시비중격하연리골강회성。삼유용적수거분석현시경악화연악련속중단，자구강가청석현시비중격하연적리골강회성。산후급인산후위산인검사증실산전초성오진2례（0.06%，2/3598），루진1례단순악렬（8.33%，1/12）。태인단순악렬발생솔위0.33%（12/3598）。12례단순악렬태인중11례합병기타부위기형，합병기형부위1~6개，이단순악렬합병중추신경계통기형（6/12）、소하합（6/12）、비뇨계기형（5/12）최다견。2례태인합병양수과다，1례태인무양수。결론계통산과초성검사장태인계발악작위상규검측항목진행규범화검사，재성공획취계발악현상적태인중가이검출단순악렬。산전진단단순악렬유리우잉부진행전면적산전자순급유전풍험평고。
Objective To summarize the characteristics and associated malformation of fetal isolate cleft palate in prenatal ultrasonography, and analyze the reason of ultrasound misdiagnosis and missed diagnosis in isolate fetal cleft palate prenatally. Methods Systemic screening was performed with two-and three-dimensional ultrasonography in 3 576 cases. The fetal lip and plane were observed especially in nasolabial coronary plane, axial plane through maxilla, median sagittal plane, oblique coronal plane through oral cleft. Meanwhile the accompanied deformity were also screened. And prenatal ultrasound results were compared with postpartum ifndings. Results Eleven in 3 598 cases (0.31%, 11/3 598) were diagnosed as fetal isolate cleft palate by prenatal ultrasonography. The ultrasonic characteristics of isolate cleft palate were:(1) One case ofⅠ° cleft palate, the ultrasonic manifestations:in median sagittal plane, the hyperecho line of median palatine suture was disappeared, and the mucous membranes above and below it were complete;in oblique coronal plane of soft palate through oral cleft, the soft palate was complete and continuous;uvula couldn′t be displayed. (2) Three cases ofⅡ° cleft palate, the ultrasonic manifestations:in median sagittal plane though jaw, the hyperecho line of median palatine suture was shorter;the latter half and the midline of soft palate was disappeared;in both paramedian sagittal plane, the arc-shaped hyperecho line of median palatine suture were displayed;and longer than the hyperecho of midline of palate;in oblique coronal plane of hard palate through oral cleft, the ifrst half hyperecho line of hard palate was continuous, the middle of the latter half hyperecho line was interrupted;in oblique coronal plane of soft palate through oral cleft, the midline of soft palate was interrupted. 3D volume data analysis showed that the ifrst half hard palate was complete, the midline of the latter half hard palate and soft palate was interrupted. (3) Seven cases ofⅢ° cleft palate, the ultrasonic manifestations:in median sagittal plane, the hyperecho line of median palatine suture was disappeared;in oblique coronal plane of hard palate through oral cleft, the middle part echoes of the hard palate was interrupted;in oblique coronal plane of soft palate through oral cleft, the midline of soft palate was interrupted;oral and nasal cavity were communicated;the hyperecho of the vomer at the lower edge of the nasal septum could be displayed though oral cavity. 3D volume data analysis showed that hard palate and soft palate were interrupted. The hyperecho of the vomer at the lower edge of the nasal septum could be displayed clearly though oral cavity. Prenatal ultrasonic diagnosis was conifrmed by postpartum ifndings. And 2 cases were misdiagnosed (0.06%, 2/3 598), 1 case was missed diagnosed (8.33%, 1/12). The incidence of isolate fetal cleft palate was 0.33%(12/3 598). In 12 cases of isolate fetal cleft palate, 11 cases were accompanied with other fetal deformities, including central nervous system malformations (6/12), small jaw (6/12), urinary tract malformation (5/12), hydramnios (2/12), and absence of amniotic lfuid (1/12). Conclusions Fetal secondary palate should be routinely included in the prenatal screening. When secondary palate planes weresuccessfully demonstrated, the isolate cleft palate could be detected. Prenatal diagnosis of the isolate cleft palate is contributive to prenatal counseling and risk assessment.