CAJ | 학술논문

目的总结胎儿肢体畸形的超声声像图特征,并对超声漏诊的肢体畸形声像图进行分析.方法采用连续顺序追踪超声检测法对15246例胎儿行常规二维或三维超声系统筛查,观察胎儿肢体发育情况,有无姿势异常及伴发其他器官畸形,并与引产胎儿外观检查、X线检查结果进行对照分析,总结漏诊病例超声声像图特征.结果15246例孕妇产前超声诊断胎儿畸形123例(0.8%,123/15246),其中胎儿肢体畸形38例,共9种畸形:(1)四肢短小畸形11例,其中成骨不全1例、骨发育不全2例、致死性侏儒1例、单纯四肢短小畸形7例.(2)足内翻8例,产前超声漏诊1例;(3)桡骨缺如及桡骨发育不全7例;(4)长骨缺如4例;(5)肢体远端手缺如1例;(6)多指2例,漏诊3例;(7)重叠指2例;(8)并指2例,漏诊1例;(9)人体鱼序列征1例.引产胎儿标本外观检查及胎儿标本X线检查(10例染色体检查)证实胎儿肢体畸形43例(35.0%,43/23).5例漏诊胎儿(11.6%,5/43)中3例多指、1例并指、1例足内翻.43例肢体畸形胎儿中23例(53.5%,23/43)为单纯肢体畸形,20例(46.5%,20/43)合并1种或多种其他部位异常(神经、循环、消化、泌尿、骨骼系统畸形),以神经系统异常(35.0%,7/20)和心脏发育异常(30.0%,6/20)居多.10例胎儿行染色体核型分析,7例染色体正常,3例染色体异常(30.0%,3/10):1例并指畸形胎儿为13-三体,2例重叠指畸形胎儿均为18-三体).结论胎儿肢体畸形超声声像图特征明显,应用连续顺序追踪超声检测法辅以三维成像检查可提高胎儿肢体畸形检出率;胎儿肢体畸形常与其他器官畸形伴发,部分胎儿畸形与染色体异常有一定关联性.
목적총결태인지체기형적초성성상도특정,병대초성루진적지체기형성상도진행분석.방법채용련속순서추종초성검측법대15246례태인행상규이유혹삼유초성계통사사,관찰태인지체발육정황,유무자세이상급반발기타기관기형,병여인산태인외관검사、X선검사결과진행대조분석,총결루진병례초성성상도특정.결과15246례잉부산전초성진단태인기형123례(0.8%,123/15246),기중태인지체기형38례,공9충기형:(1)사지단소기형11례,기중성골불전1례、골발육불전2례、치사성주유1례、단순사지단소기형7례.(2)족내번8례,산전초성루진1례;(3)뇨골결여급뇨골발육불전7례;(4)장골결여4례;(5)지체원단수결여1례;(6)다지2례,루진3례;(7)중첩지2례;(8)병지2례,루진1례;(9)인체어서렬정1례.인산태인표본외관검사급태인표본X선검사(10례염색체검사)증실태인지체기형43례(35.0%,43/23).5례루진태인(11.6%,5/43)중3례다지、1례병지、1례족내번.43례지체기형태인중23례(53.5%,23/43)위단순지체기형,20례(46.5%,20/43)합병1충혹다충기타부위이상(신경、순배、소화、비뇨、골격계통기형),이신경계통이상(35.0%,7/20)화심장발육이상(30.0%,6/20)거다.10례태인행염색체핵형분석,7례염색체정상,3례염색체이상(30.0%,3/10):1례병지기형태인위13-삼체,2례중첩지기형태인균위18-삼체).결론태인지체기형초성성상도특정명현,응용련속순서추종초성검측법보이삼유성상검사가제고태인지체기형검출솔;태인지체기형상여기타기관기형반발,부분태인기형여염색체이상유일정관련성.
Objective To summarize the characteristics of fetal limb deformity in two-dimensional and three-dimensional ultrasonography (USG),and analysis the causes of missed diagnosis.Methods Systematic continuous sequence approach ( SCSA ) was performed with two-dimensional or three-dimensional ultrasonography to examine 15 246 fetuses,observing the fetal limbs development,posture abnormalities and other organ deformities,comparing with the morphology and X-ray characteristics of the delivered fetuses ,then to summarize the characteristics of fetal limb deformity in USG ,and analyze the causes of missed diagnosis . Results One hundred and twenty-three abnormalities were diagnosed out of 15 246(0.8%,123/15 246)by prenatal USG,and 38 fetuses were fetal limb deformity which could be classified into 9 types:(1)Short limbs deformity,1 case of osteogenesis imperfecta,2 cases of achondroplasia,1 case of lethal dwarfism and 7 cases of simple short limbs deformity;(2) Foot varus,1 case missed;(3) Radial absence or hypoplasia (7 cases diagnosed);(4)Long bone absence (4 cases diagnosed);(5) Distal limbs absence(1 case diagnosed);(6)Polydactylia(2 cases diagnosed and 3 cases missed);(7) Overriding fingers(2 cases diagnosed);(8)Syndactyly(2 cases diagnosed and 1case missed);(9)Sirenomelia sequence(1 case diagnosed).Forty-three cases(35.0%,43/123) of fetal limb deformity were confirmed in after labor fetuses with visual inspection and X-ray examination(10 cases of them with chromosome examination ).Five cases were missed(11.6%, 5/43),including 3 cases of polydactylia,1 case of syndactylia and 1 case of foot varus.Forty-three cases of fetal limb deformities among 23 cases(53.5%,23/43)were detected to be simple limb deformities .While the rest 20 cases(46.5%,20/43)complicated with one or more other organ deformities (including the nervous, circulatory,digestive,urinary,or skeletal system deformity),mostly nervous system deformities (35.0%,7/20) and abnormal heart development (30.0%,6/20).Seven cases out of 10 with chromosome examination were normal,while 1 case was trisomy-13 and 2 cases were trisomy-18.Conclusions The characteristics of fetal limb deformities are obvious in ultrasonography .The detection rate of fetal limb deformities can be greatly improved by using SCSA supplemented by three-dimensional ultrasonography .Fetal limb deformities often coexist with other organ deformities while partly associated with chromosomal abnormalities .