三维超声在胎儿膀胱增大相关疾病诊断中的应用

目的 探讨三维超声在产前诊断胎儿膀胱增大及相关疾病鉴别诊断中的应用价值。方法 回顾性分析20胎经引产后尸体解剖或出生后随访证实膀胱增大的胎儿临床及声像图资料。结果 20胎中,8胎后尿道瓣膜,2胎尿道闭锁,7胎梅干腹综合征,1胎膀胱输尿管反流,1胎肛门闭锁、尿道下裂,1胎正常。膀胱增大胎儿超声均表现为下腹部巨大无回声区,不同原因所致膀胱增大的声像图表现各具特征。结论 三维超声可清晰显示胎儿膀胱的解剖形态,有助于诊断膀胱增大相关疾病。     

Bladder distention and pyelectasis in the male fetus: causes,comparisons, and contrasts.

The objective of this paper was to determine if prenatal sonographic findings can accurately differentiate between the causes of bladder distention and pyelectasis in the male fetus. Twenty-one cases were evaluated for the presence of oligohydramnios, posterior urethral dilation, bladder wall thickening, urachal patency, cortical thinning, cortical cysts, and increased renal echogenicity. Postnatal diagnosis included posterior urethral valves (10 cases), prune belly syndrome (four cases), vesicoureteral reflux (four cases), left ureterovesical junction obstruction (one case), and nonrefluxing, nonobstructive megacystis-megaureter (two cases). Oligohydramnios was present in eight of 10 cases of posterior urethral valves and in one of four cases of prune belly syndrome. A dilated posterior urethra was noted in seven of 10 cases of posterior urethral valves and transiently in two of four cases of prune belly syndrome. Bladder wall thickening developed in all cases of posterior urethral valves and was noted in two of four patients with prune belly syndrome. A patent urachus likewise was identified in two of four cases of prune belly syndrome. The presence of oligohydramnios, progressive bladder wall thickening, and dilated posterior urethra was most suggestive of posterior urethral valves, whereas the presence of a patent urachus was most suggestive of prune belly syndrome. The presence of pyelectasis and megacystis without additional amniotic fluid, bladder, urethral, or renal abnormalities was most suggestive of vesicoureteral reflux, ureterovesical junction obstruction, or nonrefluxing, nonobstructive megacystis-megaureter. Owing to the overlap and evolution of these findings, close follow-up evaluation is recommended.     

Sonographic findings in a fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome

We describe the perinatal findings in a female fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome (MMIHS). Prenatal sonography performed during 18–21 weeks' gestation showed a normal amount of amniotic fluid, but the fetus was seen to have a persistently distended stomach, a hugely distended bladder, and bilateral dilated renal calyces. Genetic analysis of amniotic fluid revealed a 46,XX karyotype. The pregnancy was terminated at 22 weeks' gestation. At necropsy, the fetus was found to have prune-belly syndrome, gastric dilatation, pronounced megacystis, bilateral hydronephrosis and megaureters, short bowel, microileum, microcolon, and malrotation of the intestines. This fetus showed the typical clinical and sonographic features of MMIHS, as well as the rare antenatal finding of persistent gastric distention. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26:217–220, 1998.     

Sonography of fetal micturition.

OBJECTIVE: To describe the sonographic visualization of fetal micturition and its role in the diagnosis of posterior urethral valves and hypospadias. METHODS: This was a prospective study of 25 male fetuses (21 with bilateral pyelectasis, one whose bladder was being studied because of ureterocele and three with hypospadias), and five female fetuses (with bilateral pyelectasis). A midline sagittal scan of the fetal pelvis, perineum and external genitalia was obtained and observed continuously during fetal micturition. RESULTS: In 19 of the 21 male fetuses and the five female fetuses with bilateral pyelectasis micturition was normal, with visualization of urinary bladder contraction, slight fluid distention of the urethra and a urinary stream from the external urethral meatus. In three male fetuses, two with bilateral pyelectasis and the one with ureterocele, the posterior urethra was normal at rest and it ballooned out during micturition, diagnostic of posterior urethral valves. In the three male fetuses with hypospadias the ventral jet of the urinary stream was visualized. CONCLUSION: Fetal micturition can be visualized on sonography. It may be of value in the diagnosis of posterior urethral valves and hypospadias.     

Enlarged fetal bladder: Differential diagnosis and outcomes

The sonographic finding of an enlarged fetal bladder may simply be a transitory normal variant, but it may also be secondary to reflux or to obstructive, neurogenic, or myopathic causes. In this report, we describe the cases of 3 fetuses with an enlarged bladder, each of which had a different cause. The first fetus had posterior urethral valve obstruction, the second, a ruptured neurogenic bladder, and the third, megacystic-microcolon-intestinal hypoperistalsis syndrome. When sonographic examination reveals an enlarged fetal bladder, the ureter, kidneys, genitalia, and spine should be evaluated carefully. Although sonography is good at identifying urinary tract abnormalities, it often cannot provide the specific diagnosis or cause. We recommend frequent sonographic monitoring to evaluate such fetuses for persistence of or changes in bladder enlargement and for changes in the volume of amniotic fluid because these signs may be indicators of abnormalities of renal function and risk factors for a poor prognosis. Analysis of fetal electrolyte levels can also aid in determining the prognosis and whether the condition is amenable to therapeutic intervention.     

Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy.

OBJECTIVE: The prognosis of fetal lower urinary tract obstruction (LUTO) depends upon renal function and also upon the underlying etiology. Precise identification of the latter remains a challenge antenatally. Our objective was to examine the underlying pathology in male fetuses with sonographic evidence of severe and isolated LUTO. METHODS: Detailed postmortem examination was carried out after termination of pregnancy in 24 male fetuses presenting before 25 weeks of gestation with ultrasound evidence of isolated severe LUTO. RESULTS: All fetuses had megacystis and hyperechogenic kidneys. There was anhydramnios/oligohydramnios and pelvicalyceal dilatation in 20 and 15 cases, respectively. Posterior urethral valves (PUV) were suspected antenatally in 20 cases and urethral atresia was not suspected antenatally. However, postmortem examination of the urethra demonstrated atresia in six cases, severe stenosis in eight cases, PUV in nine cases and an apparently normal urethra in one case. Renal dysplasia was found in all cases but one. Urethral atresia was the most common urethral anomaly at 12-17 weeks. Hydronephrosis was more frequent in cases with PUV (8/9) and urethral stenosis (6/8) than with urethral atresia (0/6). In LUTO presenting in the first and second trimester, hyperechogenic kidneys were predictive of renal dysplasia in 95% of cases. The association of a sagittal diameter of the bladder of at least 40 mm with hydronephrosis before 28 weeks was predictive of PUV with a positive (PPV) and negative (NPV) predictive value of 44.4% and 66.6%, respectively. Absence of hydronephrosis and a sagittal diameter of the bladder of less than 40 mm were predictive of urethral atresia or stenosis with a PPV and NPV of 100% and 47.6%, respectively. The absence of hydronephrosis was predictive of urethral atresia with a PPV and NPV of 66.6% and 100%, respectively. CONCLUSION: LUTO in a male fetus presenting with megacystis in the first or second trimester of pregnancy is as likely to reflect urethral atresia or stenosis as it is PUV. The size of the bladder and the presence of hydronephrosis should be considered in order to improve prenatal diagnosis and counseling.     

Development of the Eagle-Barrett (prune belly) syndrome and a thickened, poorly functional bladder wall after early second-trimester decompression of fetal megacystis.

The management of bladder outlet obstruction in the fetus remains a debated issue. Recent data suggest the use of cystocentesis for the possible relief of the bladder neck obstruction or for the opening of posterior urethral valves. This case report adds further support for the use of cystocentesis and observation prior to the placement of an indwelling bladder shunt. The case further demonstrates that relief of the megacystis may not prevent prune belly syndrome, bladder dysfunction or renal damage. Finally, the case demonstrates that severe oligohydramnios in the second trimester need not invariably result in pulmonary hypoplasia.     

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。     

Sonographic diagnosis of urethral anomalies in infants: value of perineal sonography.

OBJECTIVE: To assess the value of urethral sonography including a perineal approach in evaluating urethral anomalies in infants. METHODS: A radiology database review identified 88 patients (mean age +/- SD, 64 +/- 84 days) who underwent voiding cystourethrography (VCUG) and urethral sonography as part of extended sonography of the urinary tract. Sonographic and VCUG images and reports were reviewed to assess agreement between both modalities for detection of urethral anomalies. RESULTS: Sonography facilitated the correct diagnosis of all 3 posterior urethral valves. The only urethral diverticulum, the only ectopic ureteric insertion into the urethra, the only urogenital sinus, and the only urethrovaginal fistula were also shown on sonography. In 73 (94%) of 78 cases, sonography correctly showed the absence of anomalies. In 5 infants, sonography could not reliably assess the urethra and showed indirect signs of urethral anomalies; however, these patients had normal urethras on VCUG. CONCLUSIONS: Our data show that sonography of the urethra is a valuable tool for diagnosis of urethral anomalies. Especially, negative findings on sonography are highly suggestive of the absence of urethral anomalies. Positive or equivocal sonographic findings should indicate VCUG.     

Two‐ and three‐dimensional prenatal sonographic diagnosis of prune‐belly syndrome

We report the prenatal diagnosis of 6 cases of Prune‐belly syndrome in the 2^nd trimester. The sonographic diagnosis was based on the findings of oligohydramnios, renal anomalies, and a lower abdominal cystic mass representing the abnormal dilatation of the bladder on conventional 2‐dimensional sonographic examination. We discuss the role of Doppler imaging and 3‐dimensional sonography as complementary methods to conventional sonography. Four of our 6 cases were confirmed with associated defects. © 2009 Wiley Periodicals, Inc. J Clin Ultrasound, 2010     

Prenatal sonographic diagnosis of posterior urethral valves: Identification of valves and thickening of the posterior urethral wall

This report describes 2 heretofore unreported sonographic findings that may aid in the antenatal diagnosis of posterior urethral valves. Each of 2 fetuses showed a prominent or thickened posterior urethra and one or more bright echogenic lines representing valve tissue within a dilated and/or thickened posterior urethra. These findings helped solidify the antenatally suspected diagnosis of posterior urethral valves. The diagnosis was confirmed clinically and surgically during neonatal life. These 2 imaging findings may help in providing a more definitive antenatal diagnosis of posterior urethral valves and allow more expeditious therapy. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26:366–370, 1998.     

女性尿直肠隔畸形序列征产前超声表现

目的总结分析胎儿尿直肠隔畸形序列征产前超声声像图及引产胎儿尸检特征。方法对2003年1月至2012年12月在南方医科大学附属深圳市妇幼保健院产前超声诊断的11例尿直肠隔畸形序列征胎儿超声图像表现和产后尸检特点进行总结分析。结果 11例尿直肠隔畸形序列征胎儿产前超声均显示腹腔内巨大囊性包块（双房或单房囊性结构2例,三房囊性结构9例,囊内透声清亮3例,囊内透声浑浊8例）和肛门闭锁,其中7例肾脏异常,6例伴腹腔积液;3例可见肠石症;伴发其他系统畸形包括脊髓栓系2例、单脐动脉2例、脐带囊肿2例、骶尾部发育不良1例、心肌致密化不全1例。染色体检查发现21-三体1例。引产胎儿标本尸检证实11例均为女性,有单个会阴开口,外生殖器性别不清楚,阴蒂肥大及阴唇融合;内生殖器异常包括双阴道或阴道纵隔9例,双子宫或双角子宫10例,阴道发育不良1例。结论尿直肠隔畸形序列征是一种包括泌尿系统、生殖系统、胃肠道异常的复杂先天畸形,腹腔内囊性包块是女性尿直肠隔畸形序列征的特征改变,具有重要诊断价值,产前超声发现肾脏异常及外生殖器性别不清楚有助于诊断尿直肠隔畸形序列征。     

Early fetal megacystis between 11 and 15 weeks of gestation.

OBJECTIVE: The purpose of this study was to evaluate the prognostic criteria of early fetal megacystis. DESIGN: A prospective, transvaginal ultrasound, cross-sectional study at 11-15 weeks of gestation at a tertiary referral fetal medicine unit. SUBJECTS AND METHODS: Sixteen pregnancies out of a total of 5240 were identified with early fetal megacystis. Fetal biometry, morphology, amniotic fluid, bladder size and volume were also evaluated. The karyotype was available in 15 cases. Vesicocentesis was performed in six fetuses and three had concomitant cystoscopies. RESULTS: In six fetuses, the megacystis was isolated. In the remaining ten, we detected associated hygroma (n = 5), nuchal translucency (n = 3), omphalocele (n = 1), mild pyelectasis (n = 1) and bilateral talipes (n = 1). In three cases the fetuses demonstrated renal hyperechogenicity with cysts, and in two cases oligohydramnios was found; four cases (25%) had chromosomal abnormalities; 47, XY + 13 (two cases), 47, XY + 18 and 47, XY + 21. Only one fetus from this study survived. In the remaining 13 cases, termination was proposed after counselling of the patients on the poor prognosis. The mean gestational age at termination was 15.5 +/- 2.4 weeks (range 12-20). Three fetal transabdominal cystoscopies did not allow us to view the valves; one urethral atresia was suspected, and confirmed postnatally. CONCLUSIONS: We found a high rate of associated malformations, especially intestinal malformations. The systematic evaluation of the intestinal enzymes in the amniotic fluid and urine samples might be an important aid in the diagnosis of multiple malformations, such as cloacal dysgenesis.     

Prune belly syndrome. A focused physical assessment.

Prune belly syndrome, a rare congenital anomaly, exists almost exclusively in males and consists of genital and urinary abnormalities with partial or complete absence of abdominal wall musculature. The syndrome, caused by urethral obstruction early in development, is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. The impaired elimination of urine from the bladder leads to oligohydramnios, pulmonary hypoplasia, and Potter's facies. The syndrome has a broad spectrum of affected anatomy with different levels of severity. The exact etiology of prune belly syndrome is unknown, although several embryologic theories attempt to explain the anomaly. With advances in prenatal screening techniques, the diagnosis and possible treatment of prune belly syndrome can occur before birth, although controversy exists on the proper management of prune belly syndrome. This article explores the theories behind the pathophysiology and embryology of prune belly syndrome and its multisystemic effects on the newborn infant. Specific attention is paid to presentation, clinical features, head-to-toe physical assessment, family support, and nursing care of infants with prune belly syndrome.     

Transvaginal sonographic diagnosis of female urethral diverticula

PURPOSE: We report our experience with transvaginal sonography (TVUS) in the diagnosis of female urethral diverticulum (UD). METHOD: We reviewed the TVUS examinations of 4 patients with a clinical diagnosis of UD and correlated the sonographic findings with the operative findings, especially regarding the UD's size, content, and location. RESULTS: All UDs were demonstrated on TVUS. The size, content, and location of the UD correlated well with the operative findings. CONCLUSION: TVUS is accurate in diagnosis and determination of the size, content, and location of female UD.     

产前超声联合MRI对一穴肛畸形的诊断价值

目的总结胎儿一穴肛畸形(CM)产前超声及MRI的图像特征。方法回顾性分析经产前系统超声初筛疑似CM的8例胎儿的临床影像资料,并与出生或引产后结果进行对照,总结其产前影像学特征,追踪胎儿妊娠结局。结果经产后或引产后证实CM 5例,均于孕晚期发现,产前超声误诊3例,产前MRI漏诊1例。产前超声主要表现为肛门闭锁(5例)、盆腹腔中线位置囊肿(4例)、外生殖器模糊(3例)、双肾积水(3例)、肠管扩张(2例)、肠管回声增强(1例)。产前MRI检查示直肠未探及粪便高信号影(4例)、盆腹腔囊状信号影(4例)。孕妇引产2例,活产3例。5例CM胎儿会阴部仅有一个开口,肛门闭锁,外生殖器为女性外观,2例术中见三腔室汇合成1个共同通道开口于会阴。结论肛门闭锁、盆腹腔中线部位囊肿是CM产前超声的特征性表现,当提示外生殖器异常、泌尿系统积水及肠道钙化斑时有助于诊断CM。MRI较超声更能清晰显示盆腔三个腔室之间的关系及直肠情况。     

Congenital jejunal and ileal atresia: natural prenatal sonographic history and association with neonatal outcome.

OBJECTIVE: The purpose of this study was to describe the prenatal sonographic features and natural course of congenital jejunal and ileal atresia and correlate the findings with neonatal outcomes. METHODS: We identified all neonates with surgically confirmed jejunal or ileal atresia that had prenatal sonography and neonatal surgery in our center from January 1, 1995, to April 1, 2005. Sonography reports and images were reviewed, without knowledge of neonatal outcomes, for features of intestinal obstruction. Obstetric and neonatal outcomes were evaluated. RESULTS: Fifteen (60%) of 25 offspring with atresias (10 jejunal, 4 ileal, and 1 jejunoileal) had sonography, of which 13 (86.6%) had features of atresia. Findings, number of affected fetuses, and gestational age at recognition included fetal echogenic bowel (n = 8), mean +/- SD, 21.3 +/- 3.8 weeks (range, 17.7-28.4 weeks); enlarged stomach (n = 5), 27.5 +/- 5.0 weeks (range, 22.0-34.3 weeks); dilated bowel (n = 13), 27.8 +/- 5.8 weeks (range, 18.3-35.9 weeks); and polyhydramnios (n = 6), 33.3 +/- 1.7 weeks (range, 31.0-35.6 weeks). No fetus with ileal atresia had an enlarged stomach or polyhydramnios. Delivery occurred at a mean of 34.7 +/- 3.6 weeks, with 9 (60%) cesarean deliveries. Neonatal outcomes of age at surgery, neonatal intensive care unit days, hospital days, total parenteral nutrition days, and death were similar whether or not fetal echogenic bowel, enlarged stomach, dilated bowel, or polyhydramnios was present. Likewise, these outcomes did not vary by type of atresia or time of diagnosis (prenatal or neonatal). CONCLUSIONS: Jejunal and ileal atresia have specific sonographic patterns allowing specific prenatal diagnoses in most affected fetuses. Prenatal sonographic findings and time of diagnosis did not affect neonatal outcome.     

Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature.

OBJECTIVE: To describe cases of trisomy 22 detected prenatally on second-trimester sonography and to review the literature on similar cases, with special emphasis on the prenatal findings and pregnancy outcome. METHODS: We performed follow-up second-trimester sonography and fetal karyotyping on 3 pregnant women who were referred because of abnormal findings on initial second-trimester scans. We also conducted a literature search for other reports of sonographic findings in trisomy 22. RESULTS: Fetal abnormalities shown on sonography included nuchal thickening, mild generalized skin edema, an atrioventricular septal defect, an interventricular septal defect, edema of the scalp, face, and neck, severe left pleural effusion with a marked mediastinal shift, ascites, agenesis of the diaphragm, ambiguous genitalia, a single umbilical artery, bradycardia, a multicystic left kidney, and an absent right kidney. All 3 fetuses had karyotypes indicating trisomy 22. One pregnancy was terminated at the parents' request, and 2 ended in fetal death at 23 and 26 weeks. Our literature search revealed only 1 previous report of second-trimester sonographic diagnosis of trisomy 22. We found 3 other reports describing prenatal diagnosis in the third trimester, but only limited information on the sonographic findings was available. CONCLUSIONS: Second-trimester sonography provides valuable clues for the prenatal diagnosis of several chromosomal disorders, including trisomy 22. Prenatal karyotyping is warranted if fetal growth restriction is detected in the second trimester, especially if associated with congenital defects.     

Prenatal diagnosis of Turner syndrome: report on 69 cases.

OBJECTIVE: This study was conducted to evaluate the diagnostic value of different sonographic signs of fetuses with Turner syndrome in the first and second trimesters of pregnancy. METHODS: Between 1990 and 2004, Turner syndrome was found in 69 of 22,150 fetal karyotypings. Congenital anomalies detected by sonography were analyzed. RESULTS: Of the 514 (2.3%; 514/22,150) chromosome aberrations that were diagnosed, 69 Turner syndrome cases were found (13.4%; 69/514). Twenty-four fetuses had a 45,X karyotype (34.8%), and 45 fetuses were mosaic (65.2%). Forty-seven fetuses (68.1%; 47/69) showed symptoms on sonography. A substantial proportion of fetuses with Turner syndrome showed early-onset signs that could be detected in the first trimester (29.8%;14/69). The most common findings with sonography were hygroma colli (26.1%; 18/69), fetal hydrops (11.6%; 8/69), cardiac defects (13%; 9/69), and increased nuchal translucency (13%; 9/69). Among heart defects, coarctation of the aorta was the most common (44.4% of all cardial defects). Soft markers were also detected with relatively high frequency (23.2%; 16/69). CONCLUSIONS: The diagnosis of severe Turner syndrome is possible in early pregnancy. A search for soft markers during second-trimester sonography and extensive use of echocardiography may increase the detection rate of Turner syndrome.     

What Does Magnetic Resonance Imaging Add to the Prenatal Sonographic Diagnosis of Ventriculomegaly?

OBJECTIVE: The purpose of this study was to determine the contribution of magnetic resonance imaging (MRI) in evaluating fetuses with the sonographic diagnosis of ventriculomegaly (VM). METHODS: Over 4 years, consecutive fetuses with the sonographic diagnosis of VM at 1 facility who underwent prenatal MRI at a second facility were included. The roles of MRI and follow-up sonography were tabulated. The patients were analyzed in 2 groups based on the presence or absence of other central nervous system (CNS) abnormalities. RESULTS: Twenty-six fetuses with a gestational age range of 17 to 37 weeks had sonographically detected VM (atria > or =10-29 mm), including 19 with mild VM (atria 10-12 mm). In group 1, 14 had isolated VM, 6 of which reverted to normal by the third trimester. Magnetic resonance imaging showed cerebellar hypoplasia not shown by sonography in 1 fetus and an additional finding of a mega cisterna magna in a second fetus. In group 2, 12 fetuses had VM and other CNS anomalies on sonography. Additional findings were seen with MRI in 10 of these fetuses, including migrational abnormalities (n = 4), porencephaly (n = 4), and 1 diagnosis each of abnormal myelination, hypoplasia of the corpus callosum, microcephaly, a kinked brain stem, cerebellar hypoplasia, and congenital infarction. There were significantly more fetuses with additional CNS anomalies found by MRI among those in group 2 compared with those in group 1 (Fisher exact test, P = .001). CONCLUSIONS: Although sonography is an accurate diagnostic modality for the evaluation of fetuses with VM, MRI adds important additional information, particularly in fetuses in whom additional findings other than an enlarged ventricle are seen sonographically.