常见的胎儿结构异常(部分由中华胎儿医学基金会刘子建教授提供)
1.Centralnervoussystem:(中枢神经系统)
i.无脑畸形(anencephaly)
ii.露脑畸形(exencephaly)
iii.Encephalocele(脑膨出)
iv.Spinabifida,myelomeningocele(脊柱裂,脊柱脊膜膨出)
v.Hydrocephalusandventriculomegaly(脑积水和脑室扩张)
vi.前脑无裂畸形(holoprosencephaly)
vii.小头畸形(microencephalus)
viii.先天性蛛网膜囊肿(Congenitalarachnoidcyst)
ix.Dandy-walkermalformationandvariants(Dandy-walker畸形和变异)
x.孔洞脑(porencephaly)
xi.胼胝体缺失
xii.Galen静脉血管瘤
xiii.颅内出血
2.Craniofacialandneck(颅面部和颈部)
i.Cleftlipandpalate(唇裂和腭裂)
ii.Hypertelorism(器官距离过远)
iii.Hypotelorism(器官距离过近)
iv.Micrognathia(小下颌畸形)
v.Congenitalhighairwayobstructionsyndrome(CHAOS)(先天性高位气道阻塞综合症)
vi.Cystichygromaandlymphangioma(水囊瘤和淋巴管瘤)
3.Thoraxanddiaphragm(胸廓和膈)
i.Cysticadenomatoidmalformation(囊性腺瘤样畸形)
ii.Bronchopulmonarysequestration(隔离肺)
iii.Diaphragmatichernia(膈疝)
iv.Hydrothorax/Pleuraleffusion(胸腔积液/胸膜腔积液)
v.Esophagealatresiaandtracheoesophagealfistula(食管闭锁和气管食管瘘)
4.Cardiovascular(心血管)
i.Structuralanomalies(结构异常)
1)Atrioventricularseptaldefect/Endocardialcushiondefect(房室间隔缺损/心内膜垫缺损)
2)Hypoplasticleftandrightventricles(左室和右室发育不全)
3)TetralogyofFallot(法络氏四联症)
4)Transpositionofgreatvessels(大动脉转位)
5)Atrialandventricularseptaldefects(房间隔缺损和室间隔缺损)
6)Aorticandpulmonarystenosisandatresia(主动脉和肺动脉狭窄和闭锁)
7)Ebstainanomaly(Ebstain畸形)
8)Truncusarteriosus(永存动脉干)
9)Coarctationofaorta(主动脉缩窄)
ii.Tumors(肿瘤)
iii.Arrhythmia(心律失常)
iv.Cardiomegaly(心脏扩大)
v.Pericardialeffusion(心包积液)
5.Abdominalwalldefects(腹壁缺损)
i.Omphalocele(脐膨出)
ii.Gastroschisis(腹壁裂)
iii.PentalogyofCantrell(Cantrell五联症)
iv.Ectopiacordis(心脏易位)
v.Bladderexstrophy(膀胱外翻)
vi.Cloacalexstrophy(泄殖腔外翻)
vii.Body-stalkanomaly(体蒂异常)
6.Gastrointestinaltract(胃肠道)
i.Choledochalcyst(胆总管囊肿)
ii.Ascites(腹水)
iii.Meconiumperitonitis(胎粪性腹膜炎)
iv.先天性食管闭锁
v.十二指肠闭锁
vi.肛门闭锁
7.Genitourinarysystem(泌尿生殖系统)
i.肾不发育
ii.肾脏囊性疾病
1)常染色体隐性遗传性多囊肾
2)成人型多囊肾
3)多囊性发育不良肾
4)其它囊性肾脏疾病
iii.异位肾
iv.马蹄肾
v.梗阻性尿道疾病:
vi.肾积水,先天性肾盂输尿管连接处梗阻
vii.肾积水,膀胱输尿管连接处梗阻(非反流性输尿管扩张)
viii.肾积水,膀胱输出道阻塞,后尿道瓣膜综合症(bladder-outletobstruction,posteriorurethralvalvesyndrome)
ix.尿道闭锁
x.输尿管囊肿与输尿管异位开口
xi.先天性巨输尿管
8.Skeletal(骨骼)
i.Achondroplasia(软骨发育不全)
ii.Thanatophoricdysplasia(致死性骨发育不全)
iii.Osteogenesisimperfecta(成骨不全)
iv.Campomelicdysplasia(躯干发育异常)
9.Extremities(四肢)
i.Clubfoot(畸形足)
ii.Polydactyly(多指趾畸形)
iii.Syndactyly(并指趾畸形)
iv.Radialhypoplasia/aplasia(桡骨发育不全)
v.Amnioticbanksyndrome(羊膜束带综合症)
vi.Arthrogruposis(关节弯曲)
10.Umbilicalcord(脐带)
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