Fetal Megacystis

The purpose of our retrospective observational series was to determine whether the sonographic characteristics of fetal megacystic bladders can be used to reliably establish the most likely diagnosis in fetuses with this condition. The sonographic records of pregnant patients referred to our institutions over a 10‐year period who were found on initial 2‐dimensional sonography to be carrying fetuses with megacystis were examined for evidence of a keyhole sign, bladder thickness, amniotic fluid index, and fetal sex. When available, 3‐/4‐dimensional sonography, Doppler angiography, tomographic ultrasound imaging, virtual organ computer‐aided analysis, and automatic volume calculation were used as part of the detailed fetal anatomic survey. Twenty fetuses with megacystis were identified. Seventeen were male; 2 were female; and 1 had ambiguous genitalia. All male fetuses with megacystis originally had a diagnosis of prune belly syndrome. The diagnosis for 10 male fetuses with a keyhole sign was changed to megacystis secondary to posterior urethral valves. The fetus with ambiguous genitalia had prune belly syndrome. One of the female fetuses had a diagnosis of urethral atresia, and the diagnosis for the other female fetus was megacystis‐microcolon‐intestinal hypoperistalsis syndrome. In conclusion, in fetuses with megacystic bladders, it is possible to distinguish between cases with prune belly syndrome, posterior urethral valves, urethral atresia, and megacystis‐microcolon‐intestinal hypoperistalsis syndrome by a detailed anatomic survey using 2‐ and 3‐/4‐dimensioinal sonographic techniques.     

Sonographic findings and fetal chromosomal studies undertaken prenatally by fetal blood sampling using cordocentesis.

Prenatal karyotyping was carried out on 206 pregnancies with sonographic abnormalities, including fetal malformations, growth retardation and disorders of the amniotic fluid volume. Overall, chromosomal aberrations were detected in 37 cases (18.0%), but the frequency of chromosomal aberrations was 8.2% in fetuses with a single anomaly and 52.7% in fetuses with multiple anomalies. The chromosomal risk was very high in malformations associated with growth retardation (81.8%) or with both growth retardation and disorders of the amniotic fluid volume (82.4%). High rates of chromosomal aberrations were observed in cases of heart anomalies, diaphragmatic hernia, urinary tract obstruction, hydrocephalus, intestinal atresia, abdominal wall defect and fetal effusion/hydrops. In fetuses at high risk of chromosomal aberrations, cordocentesis for rapid karyotyping is justified in the second or third trimester.     

Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length.

AIMS: To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation. METHODS: At the 10-14-week scan fetal megacystis was defined by a longitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. RESULTS: Chromosomal defects, mainly trisomies 13 and 18, were present in 30 cases. In the group with longitudinal bladder diameter of 7-15 mm the incidence of chromosomal defects was 23.6% (26/110), whereas in those with bladder diameter > 15 mm the incidence was 11.4% (4/35). The fetal nuchal translucency (NT) was above the 95th centile of the normal range for crown-rump length in a higher proportion of cases with abnormal rather than normal karyotype (76.7% compared to 31.3%; Chi-square P < 0.0001). The expected number of cases of trisomy 21, estimated on the basis of maternal age, gestational age and fetal NT, was 6.2 rather than the observed 2 and the corresponding numbers for trisomies 13 or 18 were 4.2 for expected and 24 for observed. In the chromosomally normal group with longitudinal bladder diameter of 7-15 mm follow-up scans demonstrated spontaneous resolution of the megacystis in 90% of the cases and enlargement of the megacystis and/or the development of echogenic kidneys in 10%. In contrast, none of the cases with bladder diameter > 15 mm demonstrated spontaneous resolution of the megacystis. CONCLUSIONS: In fetal megacystis with longitudinal bladder diameter of 7-15 mm there is a risk of about 25% that the fetus will have a chromosomal defect but in the chromosomally normal group there is spontaneous resolution of the megacystis in about 90% of cases. If the bladder diameter is > 15 mm the risk of chromosomal defects is about 10% and in the chromosomally normal group the condition is invariably associated with progressive obstructive uropathy.     

早孕期超声筛查胎儿巨膀胱的临床价值分析

目的探讨规范化早孕期超声筛查胎儿巨膀胱的临床特征,为其临床管理提供依据。 方法回顾性分析2018年1月至2022年1月间于郑州大学第三附属医院产前超声诊断中心行规范化早孕期产前筛查的妊娠11~13⁺⁶周孕妇43 862例的产前资料,对检出的巨膀胱胎儿,记录膀胱大小、彩色多普勒显示脐动脉,追踪妊娠过程及临床结局,通过产后复查、病理检查和介入性产前诊断等方法进一步明确病因。 结果超声筛查检出胎儿发育异常952例,其中巨膀胱胎儿64例。巨膀胱胎儿合并颈后透明层增厚者10例,合并染色体异常者10例,合并脐带囊肿者11例,合并单脐动脉者21例,合并肾回声增强者9例,早孕期显示“钥匙孔”征（+）者11例,早孕期合并心脏异常者6例,合并颜面异常者2例,合并腹壁肌层异常者7例,合并肢体骨骼异常者8例;64例巨膀胱胎儿中43例进行选择性终止妊娠,15例在随访过程中停止发育,2例出生未见异常,4例男性胎儿出生后行下尿路梗阻部手术,且尸检证实有5例为梅干腹综合征。 结论早孕期超声筛查可有效地检出和诊断胎儿巨膀胱,并可对其可能存在的病因及临床结局提供适宜的建议,有助于尽早产科处理与临床管理。     

多种分子遗传技术应用于2例小额外标记染色体胎儿的产前筛查与诊断

目的运用多种分子遗传技术对小额外标记染色体(small supernumerary marker chromosome,sSMC)胎儿进行产前筛查和诊断,探讨各分子遗传技术的优缺点。方法对2例无创产前基因检测(non-invasive prenatal tests, NIPT)高风险胎儿的孕妇进行羊膜腔穿刺术,采集羊水标本,运用多重连接依赖探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)对2例胎儿进行染色体非整倍体快速诊断,同时进行细胞培养和G显带核型分析;采用染色体微阵列技术(chromosome microarray, CMA)对胎儿1(18三体高风险)进行验证,采用MLPA技术对胎儿2(性染色体异常高风险)进行Y染色体微缺失检测。2例胎儿双亲均进行外周血G显带核型分析。结果 MLPA技术快速诊断结果为:胎儿1的18号染色体短臂部分三倍体,胎儿2携带2条正常X染色体和1条短臂缺失的Y染色体;胎儿1羊水G显带核型结果为47,XY,+Mar(胎儿1),胎儿2为47,XX,+Mar;胎儿1的CMA检测结果为arr[hg19]18p11.32p11.21 (136,227-15,099)×4;胎儿2的Y染色体微缺失结果为SRY基因和生精区AZFc区缺失。2例胎儿父母双亲的外周血染色体核型均正常。结论 NIPT检测适用于sSMC胎儿的产前筛查,不同的分子遗传产前诊断技术检测sSMC胎儿各有优缺点,相互补充验证的结果可为sSMC胎儿临床遗传咨询提供更详细的信息。     

彩色多普勒观察脐动脉对胎儿畸形的诊断评价

目的探讨脐动脉彩色多普勒血流频谱分析在胎儿畸形中的临床意义.方法自1999年6月～2003年6月于本院行彩色多普勒超声检查胎儿发育异常97例,全部病例在出生或引产后得到证实.同时与羊水量改变及胎盘大小改变进行比较,评价其特异性,同期收集正常孕妇308例作为对照组,研究脐动脉血流收缩期峰速与舒张期最低流速之比值(S/D值).结果胎儿畸形组的S/D值明显高于对照正常组,其敏感性仅次于羊水量改变.结论胎儿畸形,特别是多发畸形组,消化系统畸形和中枢神经系统畸形及水肿胎儿组可引起S/D值升高,脐动脉S/D值异常,特别是结合羊水量改变有明显诊断意义.     

Tetralogy of Fallot in the fetus in the current era.

OBJECTIVES: To compare the spectrum of tetralogy of Fallot detected recently in fetal life with that in previous reports of prenatal and postnatal experience. METHODS: All cases of tetralogy of Fallot, including those with pulmonary atresia, diagnosed between 1998 and 2005 inclusive were identified. Additional data for the 129 cases were collected, including associated congenital heart malformations, nuchal translucency measurement, karyotype and outcome. RESULTS: The most common reason for referral was a suspicion of heart malformation at the routine obstetric ultrasonography scan and referrals increased during the study period. The mean gestational age at diagnosis was 20.6 weeks. The nuchal translucency measurement was above the 95th centile in 37 (47%) of the 78 fetuses in which it had been measured, and in 19/37 of the chromosomally normal fetuses. Of 112 fetuses with chromosomal analysis, 55 (49%) had anomalies, including 22q11 microdeletion in 15. There were additional extracardiac malformations in 65/129 cases (50%) and additional cardiac malformations in 73 (57%). In 70/129 (54%) cases, the parents chose termination of pregnancy. Overall survival to date in the continuing pregnancies is 77%. CONCLUSIONS: Tetralogy of Fallot is increasingly recognized during routine fetal obstetric scanning. However, the spectrum of disease detected in the fetus remains biased towards those cases with extracardiac malformations and those with complex disease. As a result, even in the current era, the prognosis for the whole group of fetal cases under the diagnostic heading of tetralogy of Fallot continues to be much less favorable than would be expected of a postnatal series.     

Atrioventricular block detected in fetal life: associated anomalies and potential prognostic markers.

OBJECTIVES: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. METHODS: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). RESULTS: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. CONCLUSIONS: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly.     

规范化早孕期超声筛查单胎胎儿巨膀胱的临床价值

目的探讨规范化早孕期超声筛查单胎胎儿巨膀胱的方法及临床价值。 方法2009年1月至2016年5月在南京大学医学院附属鼓楼医院产前诊断中心检查的单胎妊娠孕妇16 586例,于妊娠11~13^＋6周行规范化早孕期超声筛查,并测量胎儿膀胱大小,彩色多普勒显示双脐动脉;对超声检出巨膀胱的胎儿均追踪妊娠过程及临床结局。 结果产前超声检出单胎巨膀胱胎儿8例,5例胎儿染色体检查,1例核型为18-三体,4例核型均正常;早孕期超声检查合并的畸形为颈项部透明层增厚、胎儿中肠疝、右上肢腕关节过度屈曲、未见胃泡;超声随访至中孕期检查合并的畸形为先天性心脏病、肾积水、无羊水;3例胎儿早孕期引产终止妊娠,1例孕15周胎儿自然胎死宫内,4例胎儿中孕期引产终止妊娠;引产胎儿病理检查诊断：梅干腹综合征2例,尿道闭锁1例,后尿道瓣膜1例。 结论规范化早孕期超声结构筛查可检出胎儿巨膀胱,早孕期检出的巨膀胱胎儿妊娠结局较差。     

First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence.

OBJECTIVE: To describe the association between echogenic amniotic fluid and first-trimester fetal acrania. METHODS: Nine fetuses with acrania were examined between 11 weeks' and 13 weeks 6 days' menstrual age for the presence of echogenic free-floating particles in the amniotic fluid. Cases were classified into 3 types according to the echogenicity of the amniotic fluid: similar to (type 0), slightly greater than (type 1), and clearly more echogenic than (type 2) that of the extracelomic fluid. RESULTS: In 1 pregnancy, no free-floating particles were identified (type 0). In 6 cases, small free-floating particles scattered within the amniotic cavity were identified, making the amniotic fluid slightly more echogenic than the extracelomic fluid (type 1). In the remaining 2 cases, the amniotic fluid was homogeneously and clearly more echogenic than the extracelomic fluid (type 2). CONCLUSIONS: A high percentage (89%) of fetuses with acrania had echogenic amniotic fluid, suggesting that this finding could potentially be used as a marker of fetal acrania in the first trimester. This finding also supports the hypothesis of the transition from acrania to anencephaly, with the unprotected brain undergoing progressive destruction from the first trimester, leading to the classic finding of anencephaly in the second trimester.     

Fetal echogenic bowel: parameters to be considered in differential diagnosis.

OBJECTIVES: To evaluate the extent that associated findings aid in the differential diagnosis and/or prognosis of fetal echogenic bowel. METHODS: Medical history, obstetric records and outcome details were examined for 131 consecutive pregnancies with fetal hyperechogenic bowel. RESULTS: In 62 (47%) cases, there were no visible anomalies other than hyperechogenic bowel and no evidence of growth restriction. This group included four (7%) pregnancies with Down syndrome, 15 (24%) with infection or a recent episode of influenza and eight (13%) with blood staining of amniotic fluid. In the remaining 69 (53%) cases, hyperechogenic bowel was accompanied by hydrops or nuchal edema (n = 16, 12.2%), growth restriction (n = 9, 6.9%), other markers for chromosome anomalies (n = 33, 25.2%) or multiple structural anomalies (n = 11, 8.4%). In this group, the prevalence of Down syndrome was 12%, infection or influenza was reported in 14 (20%) cases and there was blood staining of amniotic fluid in seven (10%). Cystic fibrosis screening was performed in 65 (50%) pregnancies; the results were negative in all cases and clinical assessment did not indicate cystic fibrosis in any of the 91 infants who were born alive. Maternal serum screening was performed in 41 (31%) pregnancies. High alpha-fetoprotein levels were associated with multiple abnormalities or severe growth restriction. CONCLUSIONS: In many pregnancies with fetal hyperechogenic bowel, there are multiple factors that may explain these findings. Thus identification of one potential underlying cause should not preclude further testing. Once chromosome defects, cystic fibrosis, structural abnormalities, infection and growth restriction have been excluded, parents can be counseled that the prognosis is good, irrespective of the presence or absence of blood stained amniotic fluid.     

Venous Doppler ultrasound in 146 fetuses with congenital heart disease.

OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal venous Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the inferior vena cava and ductus venosus in 146 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 39 weeks. Fetuses with isolated CHD without non-immune hydrops fetalis (NIHF) (Group A, n = 89) were separated from seven fetuses showing isolated CHD with NIHF (Group B) and 50 cases complicated by chromosomal or other extracardiac malformations, intrauterine growth restriction or non-cardiogenic NIHF (Group C). The control group comprised 109 healthy fetuses of uncomplicated pregnancies. Individual peak velocity index for veins (PVIV) measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: There was no statistical difference between fetuses with isolated CHD (Group A) and controls, for the delta PVIV of neither the ductus venosus nor the inferior vena cava. Statistical analysis revealed significant differences between non-isolated CHD fetuses (Group C) and controls for both vessels. However, in a separate analysis of isolated right heart malformations compared with the remaining isolated heart malformations (Groups A and B), a significant difference was observed for the ductus venosus, but not the inferior vena cava. There was an overall survival of 62%. In Group A, 58% of fetuses survived despite increased PVIV and 22% of fetuses with normal venous Doppler had an adverse outcome. All fetuses with cardiogenic NIHF (Group B) died. CONCLUSION: Doppler studies of the ductus venosus and inferior vena cava in fetuses with isolated CHD do not present sufficient alterations to be a reliable marker for screening purposes for CHD in mid-second- and third-trimester fetuses. Furthermore, venous Doppler did not predict fetal outcome in cases of isolated CHD. Abnormal venous Doppler results were mainly attributable to myocardial dysfunction and also to severe right heart obstruction even in the absence of congestive heart failure. Therefore, venous Doppler studies are clinically helpful in indirectly monitoring cardiac function in fetuses with cardiac malformations.     

Targeted first-trimester prenatal diagnosis before fetal reduction in triplet gestations and subsequent outcome.

OBJECTIVE: To assess the feasibility of targeted first-trimester ultrasound evaluation in triplet gestations and to report the outcome in reduced and expectantly managed triplets. METHODS: This was a retrospective analysis of 127 triplets at 11-14 weeks with targeted ultrasound examination including nuchal translucency (NT) screening. RESULTS: One or more abnormal findings were observed in 33 of 381 fetuses (8.7%), including increased NT (n = 18), malformations (n = 4), aneuploidy (n = 3), relative intrauterine growth restriction (n = 2) or spontaneous demise (n = 13). Of 63 patients (49%) who chose reduction, selective termination due to abnormal findings was performed in 13 fetuses. The rates of complete abortion <24 weeks were 9.8% and 3.2% for those with expectant management and fetal reduction, respectively. Expectantly managed triplets delivered significantly earlier (31.1 +/- 3.8 vs. 35.6 +/- 3.3 weeks) (P < 0.01) with a lower mean birth weight (1483 +/- 552 g vs. 2305 +/- 557 g) (P < 0.01) and a lower number of liveborn fetuses (85.6% vs. 97.4%) (P < 0.01) than those reduced. CONCLUSION: Targeted first-trimester ultrasound is feasible and reliable in triplet gestations and should be an integral part of the counseling process. It results in more accurate selection for those who consider fetal reduction. Our data further support fetal reduction as a valuable strategy to improve perinatal outcome in triplet pregnancies.     

Magnetic resonance imaging supplements ultrasonographic imaging of the posterior fossa, pharynx and neck in malformed fetuses.

OBJECTIVE: The objective of this study was to compare antepartum ultrasonography and magnetic resonance imaging (MRI) in the diagnosis and exclusion of malformations of the fetal neck, pharynx, skull base and posterior fossa in late pregnancy. MATERIALS AND METHODS: The study involved 26 women and 27 fetuses with ultrasonographically or clinically suspected abnormalities of the fetal neck, pharynx or central nervous system (CNS). Findings obtained by ultrasound were compared with those obtained by MRI (1.5 T) in the last trimester. RESULTS: In cases with CNS malformation (n = 19), MRI provided additional information on the anatomy of the foramen magnum and posterior fossa in nine cases (47%). When antepartum ultrasonography indicated malformation of the soft tissues of the neck or pharynx (n = 8), MRI provided additional information on diagnosis or exclusion of the abnormality in six cases (75%). The imaging capacity of the anatomy of the naso-, oro- and hypopharynx, trachea, esophagus and cervical skin outlines was better with MRI. CONCLUSIONS: MRI proved to be a valuable supplementary method to ultrasound in obtaining accurate information from the fetal neck, pharynx and posterior fossa, particularly when acoustic shadowing by bony structures or adjacent malformation impaired the quality of the ultrasonographic examination.     

不同孕周的胎儿泌尿系统畸形的三维超声产前诊断及预后评估

目的:探讨不同孕周的胎儿泌尿系统畸形的三维超声产前诊断及预后评估.方法:以2016年1 月-2018年12月在我院行产前检查的1 288例孕妇作为研究对象.均进行二维、三维超声检查,分娩或引产后进行确诊.结果:1 288例孕妇共分娩或引产1 307例胎儿,根据引产尸检或分娩后确诊检查以及随访结果,发现泌尿系统畸形共35...     

Prenatal diagnosis of trisomy 13: analysis of 28 cases.

OBJECTIVE: The purpose of this study was to investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 13. METHODS: Of 22,150 fetal chromosome analyses, 28 fetuses with trisomy 13 were found between 1990 and 2004. Sonographic findings of this aneuploidy were analyzed in this study. RESULTS: The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. There was an 89.3% (n = 25) total prevalence of sonographic abnormalities in fetuses with trisomy 13 in this series. Major (structural) malformations were seen in 23 cases (82.1%), whereas minor anomalies were detected on sonography in 16 cases (57.1%). Although in 2 fetuses 1 minor anomaly was the only sonographic sign of trisomy 13, other cases with minor anomalies (87.5% [n = 14]) were multiplex malformations, in which combinations of major and minor anomalies were detected on sonography. The most frequently seen structural abnormalities were central nervous system and facial anomalies (64.3% [n = 18]). Among central nervous system anomalies, ventriculomegaly and holoprosencephaly were seen most frequently. Cardiovascular anomalies were detected in 53.6% (n = 15) of the fetuses with trisomy 13. This high frequency underlines the importance of echocardiography in diagnosing this aneuploidy. Among minor anomalies, increased nuchal translucency (21.4%) and echogenic bowel (17.9%) were the most common findings. CONCLUSIONS: Second-trimester sonographic examination is capable of showing anomalies that are characteristic of trisomy 13; thus, the scan can indicate whether fetal karyotyping is advisable. Incorporation of careful assessment of the fetal cardiovascular system by sonography certainly increases the detection rate of trisomy 13.     

Fetal trunk and head volume in chromosomally abnormal fetuses at 11+0 to 13+6 weeks of gestation.

OBJECTIVE: To examine the pattern of growth in chromosomally abnormal fetuses at 11+0 to 13+6 weeks of gestation and compare the trunk and head volume to crown-rump length (CRL) in defining the growth deficit in such fetuses. METHODS: The fetal trunk and head volume was measured using three-dimensional (3D) ultrasound in 140 chromosomally abnormal fetuses at 11+0 to 13+6 (median 12) weeks of gestation, and the values were compared to 500 chromosomally normal fetuses. In each chromosomally abnormal fetus, the observed fetal trunk and head volume was subtracted from the expected mean (delta value) of the chromosomally normal fetuses of the same gestational age, and this difference was expressed as a percentage of the appropriate normal mean. The Mann-Whitney U-test was used to determine the significance of differences between the chromosomally normal and abnormal groups. RESULTS: In trisomy 21 (n=72) and Turner syndrome (n=14) fetuses, compared to chromosomally normal fetuses, the CRL for gestation was similar (P=0.335 and P=0.317, respectively), but the fetal trunk and head volume was about 10-15% lower (P<0.001 and P=0.004, respectively). In trisomy 18 (n=29), trisomy 13 (n=14) and triploidy (n=11), the deficit in volume was about 45% (P<0.001), whereas the deficit in CRL was less than 15% (P<0.001). CONCLUSIONS: In the quantification of the degree of early growth impairment in chromosomally abnormal fetuses, measurement of the fetal trunk and head volume using 3D ultrasound may be better than measurement of CRL.     

胎儿肠梗阻的MRI诊断

目的观察胎儿期肠梗阻MRI表现,结合生后手术史及病理学诊断,探讨MRI对胎儿期肠梗阻的诊断价值。材料与方法回顾性分析胎儿期肠梗阻病例26例,胎龄为孕23~35 w,均先行胎儿超声检查后再行胎儿MRI平扫。采用2D快速平衡稳态进动序列(2D fast imaging employ steady acquisition,2D FIESTA)、单次激发快速自旋回波(single-shot fast spin echo,SSFSE)序列、快速反转恢复运动抑制序列T1WI(fast inversion recovery motion insensitive T1WI,FIRM T1WI)和弥散加权成像(diffusion weighted imaging,DWI)序列。根据梗阻部位、梗阻区肠管信号改变、梗阻远端肠道充盈情况、肠系膜血管异常等进行影像学诊断,并观察继发改变如腹水、羊水增多等,随访出生情况及手术治疗结果,分析MRI诊断的正确率及漏诊率,探讨MRI各序列在胎儿肠梗阻诊断中的优势。结果 26例肠梗阻胎儿中:十二指肠/空肠狭窄或闭锁16例,其中4例伴十二指肠和空肠旋转不良;胎粪性小肠梗阻4例,其中2例继发肠扭转致肠缺血坏死;肛门闭锁4例;结肠狭窄或闭锁1例;先天性巨结肠1例。所有胎儿均伴有不同程度羊水增多,部分病例伴腹水、心包积液及睾丸鞘膜积液;2例为单脐动脉。MRI诊断正确率为92.3%(24/26),误诊率为7.7%(2/26)。MRI能清楚显示胎儿肠梗阻部位,观测肠管扩张的程度。SSFSE序列可显示系膜血管受累,FIRM T1WI序列有助于结肠梗阻的诊断,DWI序列可提示梗阻肠管缺血和出血的改变。结论胎儿期肠梗阻MRI图像有特征性改变,可以判断受累肠管的发生部位、梗阻程度和合并症等,对产前诊断和出生后手术治疗有重要参考价值。     

Unfused amnion and chorion after 14 weeks of gestation: associated fetal structural and chromosomal abnormalities.

OBJECTIVE: To assess possible associations between delayed chorioamniotic fusion after the end of the first trimester and fetal structural and/or chromosomal abnormalities. DESIGN: We prospectively studied 492 fetuses from high-risk pregnancies between 14 and 18 weeks of gestation by transabdominal ultrasonography. Of these, 60 (12%) had unfused amnion and chorion. RESULTS: No additional abnormalities were detected in 28/60 fetuses (47%). Karyotyping was performed in 27/28 cases, and one fetus had trisomy 13 (4%). Ten of 24 fetuses (42%) of this group attending a second mid-trimester scan after 18 weeks of gestation had abnormal sonographic findings not noted at the initial scan. Thirty-two of 60 (53%) fetuses had additional abnormalities at the initial scan: cystic hygroma (n = 12), increased nuchal translucency (n = 10) and other abnormalities (n = 10). Karyotyping revealed aneuploidy in 13 of 28 fetuses (46%) tested: trisomy 21 (n = 5), Turner's syndrome (n = 3), trisomy 18 (n = 3) and trisomy 13 (n = 2). Additional fetal abnormalities were detected only at the second scan after 18 weeks of gestation in three of eight fetuses (38%). CONCLUSIONS: These preliminary data suggest that the sonographic finding of unfused amnion and chorion after 14 weeks of gestation may be associated with fetal structural and/or chromosomal abnormalities.     

胎儿并腿畸形下肢骨骼异常三维超声骨骼成像技术、MRI与3D-HCT诊断研究

目的：探讨胎儿三维超声骨骼成像技术、胎儿磁共振成像（MRI）及引产后三维螺旋CT（3-HCT）在并腿畸形胎儿下肢骨骼异常诊断中的临床应用价值。方法应用胎儿超声骨骼成像技术与磁共振成像对7例并腿畸形胎儿进行分型诊断,并与引产后胎儿三维螺旋CT及病理检查结果对照,分析三维超声骨骼成像技术、MRI、三维螺旋CT在并腿畸形胎儿下肢骨骼异常产前与产后诊断中的应用结果。结果与终止妊娠后三维螺旋CT及病理检查结果对照,产前三维超声骨骼成像均正确显示7例并腿畸形胎儿（6例单胎,1例联体双胎）下肢股骨异常、胫腓骨异常及单足6例,无足1例。其中绒毛和（或）脐血染色体检查（5例）与生后病理检查提示男性3例,女性4例。根据Stocker并腿畸形分型标准,产前与引产胎儿标本影像学检查诊断并腿畸形Ⅲ型1例;Ⅳ型2例;Ⅴ型3例;Ⅵ型1例。7例胎儿MRI正确显示股骨异常4例、胫腓骨异常1例,足异常均未显示。结论产前三维超声骨骼成像技术与产后三维螺旋CT骨骼成像技术均为胎儿骨骼异常影像诊断新技术,可清晰显示胎儿骨骼声像,对下肢畸形胎儿正确诊断有重要临床应用价值。