早孕期胎儿严重畸形的产前超声诊断

doi:10.3877/cma.j.issn.1672-6448.2016.02.002

图1，2 孕13^＋4周胎儿颈部水囊瘤，染色体核型为45，XO，经阴道超声正中矢状切面（图1）及头颈部横切面扫查（图2）显示胎儿颈后多房性囊性包块（C）

图3~5 孕12^＋4周无脑畸形胎儿超声声像图及引产后标本图。胎儿正中矢状切面（图3）及颅脑横切面声像图显示无颅骨强回声环，箭头示额部以上颅骨及大脑缺如（图4）；引产胎儿标本正面观（图5）

图10~13 孕12^＋1周半叶全前脑胎儿超声声像图。颅脑横切面（图10，图11）显示强回声的脑中线消失（M），双侧脉络丛（CP）正常"蝴蝶征"形态消失，表现为脉络丛在前端融合；引产胎儿标本颅脑显微解剖图（图12，13）显示两侧大脑半球枕叶部分分开（箭头所示），其余部分融合，脉络丛前端融合，丘脑（T）部分融合

图16~19 孕13周胎儿左侧上肢完全截肢超声声像图及引产胎儿标本图。左侧上肢横切面（图16）、冠状切面（图17）及表面三维成像（图18）显示胎儿左侧上肢完全缺如（箭头所示）；引产胎儿标本外观检查（图19）与产前所见一致

图20~22 孕13^＋1周胎儿左上肢部分海豹肢畸形，左上肢纵切面二维（图20）及三维成像（图21）显示左上肢前臂缺如，胎儿手直接连于上臂，仅有1根手指回声。引产胎儿标本所见（图22）与产前超声诊断一致

图23~25 孕13周胎儿肢体体壁综合征合并足内翻产前二维超声（图23）及产后二维超声（图24）显示足底平面与小腿胫腓骨长轴切面在同一切面上显示；产后胎儿标本肢体检查显示足内翻（图25）

图28~31 孕13^＋5周胎儿人体鱼序列征、开放性脊柱裂、巨膀胱超声声像图及引产胎儿外观图。胎儿矢状切面二维超声（图28）、双侧下肢冠状切面超声（图29）及整体三维超声（图30）显示双下肢并在一起，小腿仅可见二根胫骨（T）回声，膀胱（BL）明显增大，向胎儿体表明显膨出；引产胎儿标本外观图（图31）显示胎儿双下肢融合

图32~35 孕13^＋6周双胎之一严重短肢畸形超声声像图。B胎儿股骨长轴切面声像图（图32）显示股骨明显缩短，长仅约0.53 cm；A胎儿股骨长轴切面声像图（图33）显示股骨长约1.24 cm，长度相当于孕13^＋5周；B胎儿正中矢状切面声像图（图34）显示NT明显增厚；A胎儿正中矢状切面声像图（图35）显示NT正常

表1 不同文献报道的早孕期可诊断胎儿心脏畸形的类型

文献序号	报道年份	诊断孕周	早孕期超声诊断胎儿心脏畸形种类
[19]	1990	11	房室间隔缺损
[20]	1990	13~13^＋6	法洛四联症
[21]	1991	12~16	右心室双出口，房室间隔缺损，室间隔缺损，法洛四联症，左心室发育不良，单心房单心室
[22]	1993	11~16	房室间隔缺损，肺动脉狭窄，单心室
[23]	1994	12	房室间隔缺损
[24]	1998	12~14	房室间隔缺损
[25]	1999	11~13^＋6	房室间隔缺损，右心室双出口，左心发育不良综合征
[26]	2002	11~13^＋6	室间隔缺损，房室间隔缺损，右心室双出口，左心发育不良综合征
[27]	2002	10~13^＋6	房室间隔缺损，左心室发育不良，室间隔缺损，Ebstein畸形，肺动脉闭锁，主动脉闭锁
[28]	2010	11~13^＋6	房室间隔缺损，大动脉转位，右心室双出口，左心发育不良综合征，主动脉弓缩窄，肺动脉闭锁
[29]	2011	11~13^＋6	房室间隔缺损，大动脉转位，法洛四联症，左心发育不良，肺动脉闭锁，室间隔缺损

表1 不同文献报道的早孕期可诊断胎儿心脏畸形的类型

文献序号	报道年份	诊断孕周	早孕期超声诊断胎儿心脏畸形种类
[19]	1990	11	房室间隔缺损
[20]	1990	13~13^＋6	法洛四联症
[21]	1991	12~16	右心室双出口，房室间隔缺损，室间隔缺损，法洛四联症，左心室发育不良，单心房单心室
[22]	1993	11~16	房室间隔缺损，肺动脉狭窄，单心室
[23]	1994	12	房室间隔缺损
[24]	1998	12~14	房室间隔缺损
[25]	1999	11~13^＋6	房室间隔缺损，右心室双出口，左心发育不良综合征
[26]	2002	11~13^＋6	室间隔缺损，房室间隔缺损，右心室双出口，左心发育不良综合征
[27]	2002	10~13^＋6	房室间隔缺损，左心室发育不良，室间隔缺损，Ebstein畸形，肺动脉闭锁，主动脉闭锁
[28]	2010	11~13^＋6	房室间隔缺损，大动脉转位，右心室双出口，左心发育不良综合征，主动脉弓缩窄，肺动脉闭锁
[29]	2011	11~13^＋6	房室间隔缺损，大动脉转位，法洛四联症，左心发育不良，肺动脉闭锁，室间隔缺损

图42，43 孕12^＋5周胎儿完全性心内膜垫缺损、NT增厚，鼻骨缺如，染色体核型为21-三体；四腔心切面收缩期（图42）及舒张期（图43）显示房室间隔连续性回声中断（AVSD），仅有一组房室瓣回声

图44~47 孕13周胎儿完全性大动脉转位，16周复查超声证实。四腔心切面（图44）显示心房正位、心室右袢，房室连接一致。心室流出道切面二维（图45）及彩色多普勒（图46）显示主动脉（AAO）发自右心室（RV），肺动脉（MPA）发自左心室（LV），主动脉位于肺动脉的右前方；3VT切面彩色多普勒（图47）仅显示主动脉回声，肺动脉未显示

图48~50 心脏解剖图显示主动脉发自右心室，肺动脉发自左心室，主动脉起始部位于肺动脉右前方

图53，54 孕12^＋3周胎儿肢体体壁综合征。上腹部横切面（图53）显示腹壁连续性回声中断，腹腔脏器从缺损处（箭头所示）外翻到羊水；引产胎儿标本（图54）显示腹裂、脊柱侧凸，脐带短，双侧唇腭裂等多发畸形

图55~58 孕13^＋6周胎儿双侧唇腭裂、NT明显增厚。鼻后三角区冠状切面（图55）显示双侧上腭连续性回声中断（CLEFT）；鼻唇冠状切面（图56）显示两侧上唇皮肤连续性回声均中断；颜面正中矢状切面（图57）显示颌骨前突（P）；引产胎儿标本外观显示唇裂畸形（图58）

图59~61 孕13^＋5周胎儿左侧膈疝。四腔心切面（图59）显示左侧胸腔内有胃（ST）、肠管（I）回声，心脏向右侧移位。引产胎儿标本解剖（图60）显示胃（ST）等腹腔脏器疝入胸腔，心脏向右侧移位；图61　孕12周胎儿巨膀胱。胎儿正中矢状切面显示膀胱（BL）巨大，上下径长约1.6 cm

图62~64 孕9^＋3周胸腹联体双胎（图像由福建省妇幼保健院超声科林晓文提供）经阴道超声胚胎矢状切面（图62）及横切面，FB1指左侧胎儿的胎体；FB2指右侧胎儿的胎体（图63）；妊娠囊内见形态异常的胚胎，有两个胎头，胸部及上腹部相连。引产胎儿标本图（图64）

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Prenatal ultrasound diagnosis of severe malformation of fetuses in the first trimester

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Prenatal ultrasound diagnosis of severe malformation of fetuses in the first trimester