超声诊断胎儿先天性泌尿系畸形

目的 探讨超声诊断胎儿先天性泌尿系畸形的临床价值。方法按产科超声检查常规对32例孕24～41周的孕妇进行彩色多普勒超声检查。结果本组32例胎儿先天性泌尿系畸形超声检查28周前检出23例，28周后检出9例。其中双肾发育不全6例，单侧肾缺如3例，肾积水11例，多囊肾5例，肾多发囊肿5例，肾发育异常1例，一侧异位肾1例，合并其他系统畸形7例。全部病例引产后证实20例；出生后，随访及手术证实10例，失访2例。结论胎儿先天性泌尿系畸形超声检查，对胎儿畸形的检出、预后的判断及临床措施的选择有重要的实用价值。     

胎儿肾先天性异常的产前超声筛查分析

胎儿肾先天性异常包括单侧肾缺如、双侧肾缺如、重复肾、肾发育不全、融合肾、异位肾等,由于该组疾病种类多,超声表现不同,极易漏误诊。我们在14873例产前超声筛查中诊断29例、漏诊1例胎儿肾先天性异常,获得一些经验和体会,总结报道如下：     

产前超声在诊断胎儿单肾缺如中的应用价值

目的 探讨产前超声在诊断胎儿单肾缺如（URA）中的应用价值.方法 回顾分析经产前超声诊断为URA的14例胎儿的超声资料,并与病理结果对照分析.结果 14例URA胎儿,其中7例左肾缺如,7例右肾缺如.超声表现为一侧肾窝及盆腹腔内未探及肾脏声像,彩色多普勒超声仅见一组肾动、静脉红蓝血流信号.14例URA胎儿均经出生或引产后证实.结论产前超声检查胎儿肾脏须多切面仔细检查,并结合彩色多普勒超声观察肾动脉和肾静脉,可有效检出URA.     

产前超声诊断胎儿异位肾的价值

目的探讨产前超声诊断胎儿异位肾的价值。方法应用二维超声对78450例胎儿进行系统检查,分析产前超声诊断为胎儿异位肾的声像图特征与临床资料。结果产前超声诊断胎儿异位肾60例,共同声像图特征为:一侧或双侧肾区未见肾脏回声,肾上腺呈"平卧"征,盆腹腔内见肾脏图像或异常包块。左侧22例,右侧35例,双侧3例;其中27例合并其他畸形,发生率为45%(27/60),18例合并肾脏畸形(多囊性肾发育不良10例,肾发育不良4例,对侧肾缺如2例,肾囊肿及肾积水并输尿管扩张各1例),8例合并肾外畸形(5例为复杂畸形,3例为单脐动脉),1例同时合并肾脏及肾外畸形。分娩后新生儿超声随访或引产后尸体解剖证实产前超声正确诊断51例,失访9例。结论产前超声能准确地显示胎儿异位肾的位置、形态、大小、回声以及合并的畸形,在胎儿异位肾的诊断方面有重要的作用。     

羊水量正常时胎儿肾发育不良的超声诊断及临床意义

目的 探讨产前超声检查对于羊水量正常时胎儿肾发育不良的诊断价值和临床意义.方法 于孕中晚期对羊水量正常胎儿中发现的单侧或双侧肾超声表现异常(包括大小、回声、形态异常,出现囊肿等)病例进行系统二维超声检查、孕期及生后随访观察、病理学检查等,并进行总结分析.仅有肾盂增宽的胎儿不包括在本组研究中.结果 发现羊水量正常但单侧或双侧肾发育不良的胎儿11例.其中单侧多囊性肾发育不良5例,4例不合并其他异常,1例合并同侧手缺如;单侧肾缺如2例,其中1例不合并其他畸形,另1例合并多发畸形包括脑积水、骶尾部脊柱裂、同侧桡骨缺失及单脐动脉,符合VACTERL综合征;盆腔.肾1例,马蹄肾1例,生后超声证实;常染色体显性遗传多囊肾1例,胎儿一侧肾可见多发囊肿,合并心脏横纹肌瘤,孕妇为双侧多囊肾;双侧肾发育不良1例,产前超声表现为双侧肾回声增强.结论 单侧多囊性肾发育不良是羊水量正常时产前超声最常检出的胎儿肾发育不良性疾病.根据产前超声表现并结合家族史,能在大多数胎儿肾发育不良病例中进行病因学诊断并帮助判断预后.     

胎儿先天性肾脏异常孕中期超声表现及遗传学异常

目的 观察先天性肾脏异常(CKA)胎儿孕中期超声表现及遗传学异常。方法 纳入接受孕中期产前超声检查并经遗传学检查证实的14例单胎胎儿CKA孕妇,观察胎儿孕中期超声表现及其遗传学异常。结果 孕中期超声检出10胎单纯肾脏异常、4胎肾脏异常合并肾外异常,表现为肾回声增强、肾盂分离及异位肾等;遗传学检查显示4胎染色体核型异常,8胎染色体拷贝数异常,2胎基因突变。结论 胎儿CKA孕中期超声表现包括肾回声增强、肾盂分离及异位肾等;即便超声异常表现并不明显,亦可合并严重染色体或基因异常。     

产前超声诊断胎儿膈疝病例分析

目的:探讨胎儿先天性膈疝在产前超声检查中声像图特点并总结产前超声筛查结果及妊娠结局。方法:回顾性收集2017年1月—2022年1月天津市中心妇产科医院收治的61例首诊可疑先天性膈疝的胎儿。所有患者均进行产前超声检查,分析其产前超声声像图特点、发生时间、合并异常及妊娠结局。结果:61例产前超声可疑胎儿膈疝病例中,以胎儿胃泡位置异常为首发线索筛查出膈疝43例(70.5%);以心脏移位、腹腔内胃泡位置为首发线索筛查出膈疝4例(6.6%);以肝脏为首发线索筛查出膈疝6例(9.8%);以肠管为首发线索筛查出膈疝8例(13.1%);其中左侧45例(73.8%),右侧8例(13.1%);双侧8例(13.1%),合并其他结构异常16例(26.2%);肺头比(LHR)范围0.21～4.93。妊娠结局:61例超声检查后继续妊娠5例,死亡1例,存活4例。结论:产前超声检查可通过特异性声像图特点,准确诊断胎儿先天性膈疝,通常首发检查线索为胎儿胃泡位置及形态发生异常、胎儿胸腔内发现异常回声、心脏移位等,发现并诊断胎儿膈疝的符合率较高,产时干预和及时救治可提高先天性膈疝胎儿的生存率,改善妊娠结局。因此,产前超声检...     

胎儿手畸形的产前超声诊断

目的 探讨产前二维及三维超声在胎儿手畸形分类中的作用.方法 回顾性分析14例胎儿严重手畸形病例的产前声像图特征,结合家谱分析、染色体核型分析与引产后尸检病理结果等进行形态学分类.结果 孕16～28周共检出严重手畸形胎儿14例,其中10例为双手同时受累,8例双侧畸形形态相同.13例合并其他超声异常表现.按畸形形态分为3类:手腕部姿势异常9例,3例合并桡骨完全缺失、手向桡侧偏斜,6例手向掌侧偏斜,包括家族遗传性先天性多发性关节弯曲畸形-远端1型、羊膜带综合征、体蒂异常、18-三体、四肢短小畸形各1例.手(指)缺如畸形3例,1例单纯性单侧手缺如,1例为5个手指缺如合并多囊性肾发育不良,1例为裂手裂足畸形.手指重叠畸形4例,3例为18-三体,2例合并手腕部姿势异常.结论 产前二维及三维超声在严重胎儿手畸形的检出、形态学分析和分类诊断等方面有重要作用.     

胎儿泌尿系统异常的产前超声诊断

目的总结胎儿泌尿系统异常的产前超声图像特征,探讨胎儿泌尿系统异常产前超声诊断的临床价值。 方法对产前超声检出泌尿系统异常的492例胎儿超声影像表现及合并畸形进行总结分析。 结果492例胎儿产前超声检出泌尿系统异常548处,其中以肾盂增宽（或肾积水）（47.2%,232/492）、肾缺如或萎缩（20.3%,100/492）、肾脏多囊性病变（16.9%,83/492）检出例数居多（84.3%,415/492）,其余类型泌尿系统异常（肾脏发育不良、肾脏异位、融合肾、重复肾、肾囊肿、巨膀胱、膀胱输尿管囊肿、脐尿管憩室、泄殖腔外翻、梅干腹综合征等）检出例数较少（27.0%,133/492）。早孕期发现胎儿巨膀胱5例,其余泌尿系统异常多于中晚孕期发现。492例胎儿中单纯泌尿系统异常366例（74.4%,366/492）,合并1种或多种其他异常的胎儿126例（25.6%,126/492）共214种异常。其中合并心脏（17.5%,22/126）、消化系统（15.1%,19/126）、颅脑（13.5%,17/126）、肢体（9.5%,12/126）、颜面（7.1%,9/126）、脊柱（7.1%,9/126）部位异常88例（69.8%,88/126）,羊水过少34例（27.0%,34/126）。与后期随访及临床检查结果对照,产前超声漏误诊5例（2例正常肾误诊为重复肾,1例肾上腺囊肿误诊为肾脏囊肿,2例异位肾误诊为肾缺如）。 结论超声是胎儿泌尿系统异常首选的检查方法,产前超声早期发现胎儿泌尿系统异常并进行连续随访对指导临床诊断治疗有重要意义。     

产前超声对胎儿体蒂异常的诊断价值

目的 探讨超声对胎儿体蒂异常的诊断价值.方法 回顾分析我院诊断的5例胎儿体蒂异常病例的产前超声表现,并与病理结果进行对照.结果 5例胎儿超声检查均可见较大的腹壁或胸腹壁缺损、内脏器官疝出、严重的脊柱及肢体异常以及脐带过短或缺如,多数伴有单脐动脉.所有胎儿均人工终止妊娠,其中2例胎儿经尸检病理证实产前超声诊断结果.结论 胎儿体蒂异常是一种致命的严重胎儿畸形,产前超声检查可通过其特征性表现特别是脐带异常表现进行诊断及鉴别诊断,孕11～14周超声筛查有助于本病的早期诊断及处理.     

The clinical significance of an empty renal fossa on prenatal sonography.

OBJECTIVE: The purpose of this study was to characterize the significance of an empty renal fossa on prenatal sonography. METHODS: A hospital database was reviewed retrospectively to find all fetuses with an empty renal fossa diagnosed on prenatal sonography between 1989 and 2003. For each case, prenatal and postnatal data were recorded. RESULTS: Ninety-three fetuses had an empty renal fossa: 49 on the left, 41 on the right, and 3 unspecified. Forty-four fetuses were male and 29 were female. For 20, the sex was not recorded. The average gestational age at diagnosis was 29.5 weeks. Final diagnoses were made on the basis of prenatal and postnatal imaging. The missing kidney was ectopic in 39 cases (42%): 34 in the pelvis, 4 fused to the contralateral kidney, and 1 in the thorax due to a congenital diaphragmatic hernia. The absent kidney was never located in 44 cases (47%) and presumed to be congenitally absent. Ten kidneys (11%) originally thought absent were normally located, 7 of which were dysplastic, 2 normal, and 1 infiltrated by a tumor. In 39 patients (42%), other anomalies were identified, sometimes involving multiple systems, most commonly genitourinary (29) and cardiovascular (13). Of the 77 cases with the number of umbilical cord vessels recorded, 68 (88%) were normal and 9 (12%) had only 2 vessels. CONCLUSIONS: If a kidney is not found in the renal fossa, most are either ectopic (42%) or congenitally absent (47%). An empty renal fossa is often (42%) associated with other congenital anomalies.     

Prenatal diagnoses in unilateral empty renal fossa

Six cases of unilateral empty renal fossa diagnosed by obstetric sonography are described. The anomalies reported (ectopic kidney, cross-fused ectopic kidney, and unilateral renal agenesis) have not yet been described in the prenatal literature, to our knowledge, in fetuses that are otherwise normal. The study also demonstrates that, in spite of their nonvital in utero role, single kidneys may show compensatory hypertrophy.     

胎儿肾脏微囊性病变的产前超声表现及病理学观察

目的 探讨胎儿肾脏微囊性病变产前超声特征及肾脏的病理改变.方法 对产前超声检查、临床随访(家族史调查证实常染色体显性遗传性多囊肾1例)或引产后病理检查(5例)证实的6例孕22～32周肾脏微囊性病变胎儿的产前超声表现、分类诊断特征及引产后肾脏病理表现进行总结分析.结果 产前超声显示6例胎儿双侧肾脏对称均匀性增大,实质回声弥漫性增强;肝门脉区回声增粗(2例)呈纤维网格样变(2例),CDFI显示6例肾血管充盈良好,频谱呈高阻力指数血流,羊水指数低于正常或在正常范围内.引产后病理标本显示5例胎儿双侧肾脏弥漫性增大,失去胎儿肾脏特有的"桑葚"状表现,肾皮质及髓质见多发微小囊肿,集合系统发育不良;镜下显示5例胎儿肾实质内见弥漫分布大小不等的囊肿,并见肾小管囊性扩张,1例肾小球Bowman囊扩张.5例引产儿尸检病理诊断:胎儿肾小管囊性变4例,肾小球囊性变1例;1例经临床追踪随访后诊断胎儿肾脏微囊性病变.结论 胎儿肾脏微囊性病变产前超声表现为肾脏增大,弥漫性回声增强,病理表现为肾小管或肾小球的弥漫性微囊性扩张.     

胎儿盆腔肾的产前超声诊断

目的探讨胎儿盆腔肾的超声筛查方法和声像图特点。方法回顾性分析经产前超声诊断的8胎胎儿盆腔肾的声像图特征,并结合引产后尸体检查病理结果及出生后随访复查等进行分析。结果盆腔肾胎儿8胎,胎龄22～36周;左肾4胎,右肾3胎,交叉融合肾1胎。2胎盆腔肾形态结构正常,1胎交叉融合肾结构正常;2胎盆腔肾合并肾积水;3胎盆腔肾合并多囊性肾发育不良,2胎为同侧,1胎为双侧并多发畸形。8胎中,引产3胎,2胎经病理检查证实;4胎出生,其中3胎经出生后复查证实,1胎失访;1胎尚在孕期随访中。结论对于单侧肾窝肾缺失的胎儿,应注意寻找异位盆腔肾。彩超显示肾动脉对诊断胎儿盆腔肾有重要提示作用。     

Prenatal sonographic diagnosis of VATER association.

PURPOSE: We examined the potential role of sonography in the prenatal diagnosis of the VATER association, a spectrum of fetal anomalies that includes vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia. METHODS: The sonographic findings in 4 fetuses with prenatal diagnoses of VATER association were prospectively recorded, along with information on outcome and postnatal radiographic findings. RESULTS: VATER association was diagnosed in 4 fetuses at 20, 17, 21, and 29 weeks' menstrual age. All showed bilateral radial atresia and tracheoesophageal fistula, visible sonographically as a collapsed or absent stomach with polyhydramnios. Two fetuses had vertebral defects. Postnatal radiographic and macroscopic findings confirmed the prenatal diagnosis in all cases. Other associated anomalies detected prenatally included single umbilical arteries (2 cases), ventricular septal defect (1 case), and renal abnormalities (2 cases). Anal atresia, present in 3 of the 4 fetuses, was not detected prenatally. CONCLUSIONS: This small series suggests that the VATER association can be readily diagnosed in utero. Important clues include radial atresia, absent or collapsed stomach, and polyhydramnios. Prenatal diagnosis can contribute to clinical decisions regarding pregnancy and neonatal management.     

Meckel-Gruber syndrome. Importance of prenatal diagnosis

Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in all cases and was evident as early as 14 weeks. An occipital cephalocele was demonstrated on sonography in each case although the size and contents of the cephalocele varied significantly. Two fetuses, both in the same family, also demonstrated a cystic mass in the posterior fossa and partial absence of the cerebellum consistent with a Dandy-Walker variant or cerebellar hypoplasia. The concurrence of marked oligohydramnios and bilateral severe renal anomalies should initiate a search for anomalies of the central nervous system indicative of the Meckel-Gruber syndrome. Recurrence of Meckel-Gruber syndrome may be evaluated as soon as 14 weeks, but it may not be reliably excluded until 20 weeks.     

Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study.

OBJECTIVE: To determine whether a specific prenatal sonographic pattern can be identified for autosomal dominant polycystic kidney disease (ADPKD) and if so whether it would be helpful in orienting complementary analysis, properly counseling parents and adapting pregnancy management. METHODS: A retrospective multicenter study was conducted in four prenatal diagnostic centers. The records of fetuses with a prenatal ultrasound examination revealing abnormal kidneys and with a final diagnosis of ADPKD were analyzed. Ultrasound analysis included: amount of amniotic fluid, bladder size, renal length, presence or absence of renal cysts and size of renal pelves, and was focused on parenchyma echogenicity and status of corticomedullary differentiation. Postnatal follow-up was reviewed. RESULTS: Of the 27 patients included in the study, 25 had hyperechogenic renal cortex and 20 had hypoechogenic medulla resulting in increased corticomedullary differentiation (CMD). In six cases, the medulla was hyperechogenic leading to absent or decreased CMD. One patient had normal cortical echogenicity and CMD. Renal cysts were present during the prenatal period in four patients (at 22 weeks in one case and after 30 weeks in three cases). In 12 patients, the cysts appeared after birth (within the first 6 months of postnatal life in 10 cases and by the age of 1 year in two cases). Elevated blood pressure was observed in only two cases and moderate chronic renal failure in one case. CONCLUSION: We have described the sonographic presentation in fetuses with ADPKD: moderately enlarged hyperechogenic kidneys with increased CMD. Although not specific to ADPKD, these findings should prompt familial screening. Other prenatal sonographic features (absent or decreased CMD and cortical cysts) are less frequent.     

Postnatal outcome of fetuses with the prenatal diagnosis of asymmetric hydrocephalus.

We sought to assess the sonographic findings and postnatal outcome in fetuses with the prenatal diagnosis of asymmetric hydrocephalus. The sonograms from cases of asymmetric hydrocephalus diagnosed prenatally at our institution were reviewed. Postnatal outcome was obtained from maternal, neonatal, and pediatric records. Fourteen fetuses at 17.3 to 38.9 weeks' gestational age on prenatal sonography had a maximum ventricular measurement of 10.2 to 48.8 mm, with the degree of asymmetry ranging from 2.2 to 27.3 mm. Thirteen of 14 had a normal-sized contralateral ventricle. Other fetal anomalies identified at sonography included Dandy-Walker malformation, intraventricular hemorrhage, porencephalic cyst, hydronephrosis, pleural effusion, and mild dilatation of a renal pelvis. Eleven fetuses had follow-up prenatal sonography. Among these, ventricular dilatation resolved in 5, remained the same in 3, increased in 2, and decreased in 1. Postnatal outcome was normal in 6 cases (43%) and abnormal in 8 (57%), including 2 cases of in utero intracranial hemorrhage, 2 with congenital syndromes, 1 with an imperforate foramen of Monro, 1 with tuberous sclerosis, 1 with developmental delays, and 1 with cerebral palsy. Asymmetric unilateral hydrocephalus appears to represent an entity different from bilateral hydrocephalus in that there is less risk of perinatal death, there are fewer associated anomalies, and the overall prognosis is better. Outcome may be normal, but fetuses with increasing unilateral ventriculomegaly and cases associated with other brain abnormalities tend to have a poor neurologic 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 horseshoe kidney by measurement of the renal pelvic angle.

OBJECTIVE: The aim of this study was to evaluate the usefulness of measurement of the angle between bilateral renal pelves on axial views in the prenatal ultrasonographic diagnosis of horseshoe kidney. METHODS: We retrospectively measured the renal pelvic angle in 19 fetuses with horseshoe and 20 fetuses with normal kidneys in the second and third trimesters. Renal pelvic angle was defined as the angle between the long axis of the renal pelves on the axial view of the abdomen. We compared the renal pelvic angles of horseshoe and normal kidneys with unpaired t-test. Taking 140 degrees as a cut-off value, we calculated the sensitivity, specificity and accuracy of pelvic angle measurement for the prenatal diagnosis of horseshoe kidney. RESULTS: The mean pelvic angles in the fetuses with horseshoe kidney were 116 degrees and 110 degrees in the second and third trimester, respectively. In the normal fetuses, the equivalent angles were 172 degrees and 161 degrees. The difference between the two groups was statistically significant (P < 0.01). Using 140 degrees as the discriminating criterion, the sensitivity, specificity and accuracy of renal pelvic angle measurement for the prenatal diagnosis of horseshoe kidney were all 100%. Fifteen of 19 fetuses with horseshoe kidney had no other abnormality. Four (21%) fetuses had severe complex abnormalities which were associated with trisomy 18 in three cases. CONCLUSION: Observation and measurement of the renal pelvic angle is a simple and useful method in the prenatal diagnosis of the horseshoe kidney.