Simultaneous cesarean section and radical nephrectomy for angiomyolipoma with spontaneous bleeding during pregnancy: a case report

BACKGROUND: Renal angiomyolipoma with spontaneous bleeding during pregnancy is an extremely rare condition and may jeopardize both the mother and fetus. The ethics of reproductive medicine, method of diagnosis, option for management and optimal time for surgical intervention can be arguable in this situation. CASE: A 31-year-old woman presented with dull right flank pain at 12 weeks' gestation. Abdominal sonography and renal magnetic resonance imaging revealed a hypervascular and fat-containing mass with mother and fetus bleeding at the right kidney. Due to stable hemodynamic status, the patient was treated conservatively and underwent elective, simultaneous cesarean section and radical nephrectomy safely at 38 weeks' gestation. Angiomyolipoma of the right kidney was diagnosed on pathologic examination. CONCLUSION: Renal angiomyolipoma with spontaneous bleeding during pregnancy is a dangerous condition that may cause mortality in the mother and fetus, but elective, simultaneous cesarean section and radical nephrectomy can be performed safely if the hemodynamic status is stable.     

The early development of the fetal kidney-an in utero sonographic evaluation between 13 and 22 weeks' gestation

OBJECTIVES: To establish a nomogram for early fetal kidney development during early gestation. METHODS: The study is a prospective, cross-sectional evaluation of 275 male and female fetuses between 13 and 22 weeks in normal singleton pregnancies. Measurements of fetal kidney length were performed by high resolution transvaginal ultrasonography between 14 and 17 weeks' gestation, and by transabdominal ultrasonography beyond 18 weeks' gestation. RESULTS: Adequate kidney length measurements were obtained in all 275 normal fetuses as well as in six fetuses with urinary tract anomalies. Kidney length as a function of gestational age was expressed by the regression equation: (square root) kidney length (mm) = -11.66 + 1.52 x gestational age (weeks). The correlation coefficient, r = 0.983 was found to be highly statistically significant (p < 0.0001). The normal mean and the 90% prediction limits were defined. Four cases with single kidney and two cases with posterior urethral valve had kidney length above the 95% upper limit. CONCLUSION: The present data offer a normal range of fetal kidney length from early stages of gestation that may allow intrauterine assessment of its development. It may also be helpful in the early prenatal diagnosis of renal abnormalities.     

胎儿泌尿系统异常的宫内诊断与结局

目的:探讨胎儿泌尿系统异常的宫内诊断,动态观察其变化与结局,为优生优育提供理论参考及临床依据。方法:1995年1月至2003年10月开展前瞻性研究,对妊娠28周后,225例超声检查诊断为胎儿泌尿系异常者进行分类,观察结局。结果:225例中,单纯肾盂积水202例,占89.78%;多囊肾9例,占4.00%;肾盂积水伴输尿管积水8例,占3.65%;肾盂积水并输尿管积水及巨大膀胱2例,占0.89%;肾缺如4例,占1.78%。对单纯肾盂积水202例,每2～4周进行1次动态观察至分娩前,72.28%积水恢复至0级;观察至产后1周,积水恢复至0级者占92.08%;双侧输尿管积水、多囊肾、肾缺如共14例,终止妊娠13例,占92.86%,1例失访。结论:超声诊断胎儿泌尿系某些异常有较高的实用价值;不合并其他异常的单纯肾盂积水,可能与胎儿膀胱贮尿有关,是一种功能性、可逆性、良性变化;肾盂积水伴双侧输尿管积水者动态观察,积水加重者,多与泌尿系梗阻有关。双侧多囊肾及肾缺如,目前尚无特别治疗方法,一旦确诊应及早终止妊娠。     

Hemodialysis rescued the mother in a case of severe chronic renal failure accompanied by perirenal hematoma due to HELLP syndrome.

We present a case of severe maternal renal failure, accompanied by HELLP syndrome (hemolysis, elevated liver enzymes, and low platelet count). Since her renal function deteriorated in addition to the anemia and thrombocytopenia from 25 weeks' gestation, hemodialysis was performed three times a week. Unfortunately intra-uterine fetal death suddenly occurred at 30 weeks' gestation, and maternal right perirenal hematoma was diagnosed after delivery. The anemia and thrombocytopenia improved dramatically and the perirenal hematoma resolved uneventfully by late puerperium. The management of severe maternal renal failure with HELLP syndrome is described.     

妊娠合并肾脏疾病28例的产科处理

目的探讨妊娠合并肾脏疾病的产科处理。方法对妊娠合并肾脏疾病28例病例的产科处理做回顾性分析。结果28例妊娠合并肾脏疾病中合并肾炎的发病率最高(20/28),妊娠并发症中妊娠期高血压疾病发生率最高(10/28)。24例肾功能代偿期孕妇均定期接受产科检查,除1例孕13周时行人工流产术外,其余23例均足月正常分娩,母儿预后良好;3例合并妊娠期高血压疾病子痫前期(重度)、肾功能不全(氮质血症期),除1例早产外,另2例剖宫产终止妊娠,母儿预后良好;另有1例孕期未进行产前检查,孕24周合并妊娠期高血压疾病子痫前期(重度),胎儿宫内发育迟缓,肾功能不全(尿毒症期),以剖宫产终止妊娠,胎儿死亡。结论妊娠结局与妊娠合并肾脏疾病中肾功能的分期和有无妊娠并发症密切相关;孕期检查和适时、适当的产科处理对于围生儿、孕妇的预后至关重要。     

Anhydramnion im zweiten Trimenon

A 32-year-old woman pregnant with her second child in the 30th week of gestation presented with anhydramnios since the 27th week of gestation. Prenatal diagnostics presumed fetal renal agenesis of the right kidney and a hypoplastic-dysplastic left fetal kidney as well as lung hypoplasia. The neonatologists were able to confirm this diagnosis after birth, and the female newborn received prompt dialysis and artificial respiration.     

Perinatal imaging findings of inherited Sotos syndrome

OBJECTIVES: Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. CASE: This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. CONCLUSIONS: Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis.     

Spontaneous rupture of the renal pelvis during pregnancy: a case report and review of the literature

We report a case with spontaneous rupture of the renal pelvis during pregnancy. A 34-year-old Japanese woman was referred at 20 weeks' gestation because of sudden severe right flank pain. She had severe colic pain radiating to the right lower abdomen with percussion tenderness at the right costovertebral angle and was initially suspected to have renal/ureteral calculi. Ultrasonography and intravenous pyelography showed urine extravasating from the renal pelvis, indicating rupture of the right renal pelvis. Immediately following the insertion of a double-J indwelling catheter, her symptoms and perirenal extravasation ceased. She had no further urological problems during pregnancy and a male infant was delivered at 41 weeks' gestation. Cases with spontaneous rupture of the renal pelvis in pregnancy are reviewed.     

Trisomy 10: ultrasound features and natural history after first trimester diagnosis

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping on chorionic villus sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed by fetal blood sampling at 22 weeks' gestation. As the parents opted to continue with the pregnancy, the natural history and following ultrasound features are described. This is the third case of trisomy 10 in the literature reporting on the physical features. The most frequent ultrasound findings presented in trisomy 10 are increased nuchal translucency, micrognathia, renal agenesis, facial cleft, limbabnormalities, cardiac defects and early severe growth retardation.     

Abdominal ultrasound examination of the first-trimester fetus

The first-trimester fetus can now be comprehensively studied with ultrasound. Various biometric measurements correlate well with gestational age, such as crown-rump length (r2 = 0.938) and cranial apex to ear diameter (r2 = 0.983). On the other hand, yolk sac diameter (r2 = 0.129) and abdominal perimeter (r2 = 0.58) correlate poorly with gestational age. By 10 weeks' gestation, kidneys can be visualized in 60% of cases; 98% will be seen at 11 weeks; and 100% of cases will be visible by 12 weeks. The bladder appears later, and by 12 weeks' gestation this organ can be identified in 50% of cases. It is likely that renal agenesis can be diagnosed (or excluded) reliably in the first trimester. With improving technology, prenatal diagnosis of some fetal anomalies is now possible in the first trimester.     

Dicentric marker derived from chromosome 22 associated with mild clinical signs: a case report

Amniocentesis performed after 24 weeks' gestation following ultrasonographic diagnosis of isolated unilateral hydronephrosis showed a de novo extra structurally abnormal chromosome in all cells examined. A combination of conventional and molecular cytogenetic techniques characterized the supernumerary marker as a dicentric and bisatellited marker derived from chromosome 22. At birth the infant presented hypoplasia of the right kidney, hearing loss on the left side and bilateral preauricular pits and skin tags. At three years, growth and neurological development were normal.     

Megacystis-microcolon-intestinal hypoperistalsis syndrome in two male siblings

Two male sibs with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. Both had enlarged bladder and hydronephrosis due to reduced bladder emptying, decreased bowel motility, and malrotation of the colon. Repeated careful ultrasound examination of the urinary tract in the second sib failed to show significant bladder enlargement prior to 25 weeks' gestation, which has been considered to be a reliable prenatal diagnostic sign for MMIHS. Slight bilateral enlargement of the renal pelves was noted at 21 weeks' gestation, and this may represent the earliest prenatally-detectable observation in this disease. Although more females than males with this condition have been reported, our cases provide support for an autosomal recessive mode of inheritance with a similar recurrence risk for both sexes.     

Ultrasonographic detection of ureteral jets in normal pregnancy

Objective: Our purpose was to determine the impact of normal physiologic urodynamic alterations of pregnancy on the detection of ureteral jets into the bladder with use of transabdominal color Doppler ultrasonography. Study Design: We conducted a prospective cohort study of 125 healthy asymptomatic gravid women without any history of past or current renal disease, all with singleton pregnancies between 13.4 and 37.7 weeks' gestation. Right and left ureteral jets were recorded over a 5-minute period with use of color Doppler transabdominal ultrasonography and a full bladder. Each kidney was graded by the severity of the hydronephrosis. No hydronephrosis was grade 0, mild hydronephrosis was grade 1, and moderate hydronephrosis was grade 2. There were no cases of severe hydronephrosis. Results: There were 56 grade 0 cases on the right versus 93 grade 0 cases on the left (p < 0.0001), 53 versus 30 grade 1 cases (right vs left, p < 0.003) and 16 versus 2 grade 2 cases (right vs left, p < 0.0009). In the subgroup where both kidneys were grade 0 the mean number of right ureteral jets 5 mm was 14.7 versus 15.1 for the left ureteral jets (p = 0.73). In the grade 1 subgroup mean right versus left ureteral jets was 15.4 versus 16.6 (p = 0.65). For the grade 2 subgroup mean right versus left ureteral jets was 15.5 versus 21.0 (p = 0.32). There were 4 of 125 unilateral absent ureteral jets on the right versus 0 of 125 on the left (p = 0.122). Conclusion: Our data demonstrate that ureteral jets can be readily detected during pregnancy independent of the gestational age. In addition, it does not appear that the physiologic urodynamic alterations of pregnancy affect the frequency or symmetry of ureteral jets. Thus identification of ureteral jets can be used in the workup of suspected urolithiasis in pregnant patients. (Am J Obstet Gynecol 1998;178:1194-8.)     

Urinary tract dilatation in pregnancy

Right-sided ureteral and renal pelvis dilatation was observed during routine uterine ultrasonographic examination at 30 weeks' gestation. This continued to progress with the renal pelvis measuring 8.9 cm in diameter at 35 weeks, leading to early delivery. Renal function remained normal and these changes resolved completely after delivery.     

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother

ObjectiveWe present prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.Case reportA 28-year-old woman primigravid underwent amniocentesis at 23 weeks of gestation because of fetal ultrasound findings of aortic stenosis, interrupted aortic arch (IAA), left multicystic kidney, right hydronephrosis and ureterocele. Amniocentesis revealed a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 22q11.21 (18,894,835-21,505,417) × 1.0 [GRCh37 (hg19)] with a 2.611-Mb 22q11.21 deletion encompassing 41 Online Mendelian Inheritance in Man (OMIM) genes including UFD1L, TBX1, GNB1L, COMT and MED15. aCGH analysis on the DNAs extracted from parental bloods confirmed that the mother carried the same 22q11.21 microdeletion. Level II ultrasound additionally found ventricular septal defect (VSD) and persistent left superior vena cava (PLSVC). Examination of the woman showed short stature, malar hypoplasia, hypertelorism, bulbous nasal tip, prominent nasal root, hypoplasia of nasal wings, right renal agenesis, left ureterovesical reflux and VSD with repair, but normal intelligence and normal neuropsychiatric development. The woman decided to continue the pregnancy, and a 2903-g female baby was delivered at 38 weeks of gestation with left multicystic kidney, right hydronephrosis, dysgenesis of corpus callosum, IAA, VSD, PLSVC, patent ductus arteriosus, patent foramen ovale, atrial septal defect, dilated main pulmonary artery and tricuspid regurgitation. The neonate died at the age of one month.ConclusionPrenatal diagnosis of concomitant congenital heart defects and urinary tract abnormalities in the fetus and the parent should raise a suspicion of familial 22q11.2 deletion syndrome.     

Early ultrasonic appearance of fetal bladder outlet obstruction

A case in which fetal ultrasonography detected increased fetal bladder size at 11 weeks' gestation is reported. A subsequent scan at 13 weeks' gestation showed increased fetal bladder size along with bilateral hydronephrosis, which confirmed the diagnosis of fetal bladder outlet obstruction.     

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis,hydroureter, and multicystic kidney,and variable clinical spectrum in the family

ObjectiveThis study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract.Materials and MethodsA 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes.ResultsaCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother.ConclusionPrenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion.     

Visualization of fetal intra-abdominal organs in second-trimester severe oligohydramnios by intraperitoneal infusion

Fetal intraperitoneal infusion of saline was performed in two patients with severe oligohydramnios at 24 and 25 weeks' gestation in order to enhance visualization of intra-abdominal organs. Renal agenesis was easily diagnosed. The technique can be considered as an alternative to artificial instillation of amniotic fluid in the differential diagnosis of conditions associated with severe oligohydramnios.     

Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

OBJECTIVE: To report the first known case of 6p deletion presenting in utero with hydrops fetalis and multiple anomalies in the second trimester of pregnancy. METHODS: A thirty-year-old woman (gravida 3 para 1 abortion 1) was referred to our hospital at 18 weeks of gestation because of suspicion of fetal anomaly on routine ultrasound examination. A detailed anomaly scan revealed a single viable fetus with marked skin edema, marked ascites, pleural effusion, hydronephrosis of left kidney, absence of right kidney, cardiac anomaly and oligohydramnios. The fetal face was not visible due to the fetal position. Fetal karyotyping revealed 46,XX,del(6)(p21.3). The couple opted to terminate the pregnancy. RESULTS: A hydropic female fetus was aborted and the autopsy revealed hydrops fetalis with bilateral cleft lips, hydronephrosis of left kidney, absence of right kidney, spleen, and thymus gland, truncus arteriosus, and single umbilical artery. Cord blood and tissue culture confirmed that the fetus had deletion of chromosome 6p. CONCLUSION: Deletion of short arm of chromosome 6 can result in hydrops fetalis in early pregnancy.     

Temtamy-like syndrome associated with translocation of 2p24 and 9q32

We describe the phenotype of a 5 year old girl with features resembling Temtamy syndrome, including agenesis of the corpus callosum, ventriculomegaly, frontal bossing, peaked eyebrows, ptosis, malformed and low set ears, a depressed nasal bridge, a long philtrum, and iris and chorioretinal colobomas. Features unique to this child include profound mental retardation, bilateral sensorineural hearing loss, agenesis of the corpus callosum, patent ductus arteriosus, ventricular septal defect, unilateral renal agenesis, neurogenic bladder and hydronephrosis. High resolution chromosome analysis demonstrated a de novo, balanced translocation [46,XX,t(2;9)(p24;q32)]; and her case has some overlapping phenotypic features with cases of monosomy for 2p. This is the first documented case of Temtamy syndrome with a specific chromosomal anomaly, and will assist with the elucidation of the syndrome's underlying genetic defect.