Third trimester ultrasonic presentation of infantile polycystic kidney disease

Infantile polycystic kidney disease (Potter's Type 1) is an autosomal recessive disorder that affects the kidneys and liver. Use of ultrasound to make the diagnosis prenatally is well documented and, in fact, it is advocated as a screening device for second-trimester identification of potentially affected fetuses. The sonographic appearance is characterized by enlarged hyperechoic kidneys, enlarging fetal abdominal circumference, and oligohydramnios. It is suggested that a ratio of the kidney circumference to the abdominal circumference (KC/AC) be used as method of quantifying renal size and as a potential indicator of early kidney enlargement associated with infantile polycystic kidney disease (IPKD). We report a case of serial ultrasound examination of a pregnancy at risk for IPKD where the in utero diagnosis was not established until the third trimester.     

A tale of two prior probabilities--avoiding the false positive antenatal diagnosis of autosomal recessive polycystic kidney disease.

We describe a case in which the typical ultrasound diagnosis of infantile polycystic kidney in a woman with no family history of renal disease was not confirmed by histology following termination of the pregnancy. This is contrasted with the situation in another couple who were known carriers of autosomal recessive polycystic kidney disease and where the prenatal ultrasound diagnosis was confirmed histologically. When prior genetic risk is low, the possibility of a normal or less severe outcome must be discussed with parents when fetal ultrasound shows large, echogenic kidneys but normal amniotic fluid volume.     

Ultrasound diagnosis and perinatal management of fetal genito-urinary abnormalities

Approximately 50% of fetal abdominal masses originate in the urinary system and those recognizable ultrasonically include renal dysplasia, renal agenesis and obstruction of the lower excretory channels. Fetal renal anomalies may be discovered co-incidentally during the course of sonographic evaluation of uterine size-dates discrepancy, because they are commonly associated with fetal growth retardation and/or oligohydramnios, or during a planned sonographic follow-up of pregnancies in patients who are at risk of recurrence of such anomalies. The sonographic demonstration of renal anomalies under these circumstances may allow for elective termination of pregnancy, may modify the obstetric management and/or facilitate pediatric and surgical care of the newborn. In the collaboration study at three ultrasonic centers there were 81 cases of genito-urinary tract anomalies detected antenatally in a five years period. Among the detected anomalies there were 30 hydronephrotic fetuses, 12 with multicystic disease, 15 with Potter's syndrome, 10 with polycystic kidney, 9 with Prune Belly syndrome, 4 with isolated renal cysts and 1 with an ovarian cyst. Perinatal management of the fetus with urinary tract abnormalities greatly depends on the accuracy of the diagnosis. It would be justifiable to suggest that an inexperienced observer should not make the final diagnosis. He could be of great help, if one kept a high index of suspicion in patients with a significant family history of oligohydramnios and of unexplained abnormal cystic structures in the fetal abdomen and seek the help of a special referral center where experience in related cases is concentrated. Once an accurate diagnosis is made, various alternatives are open to the obstetrician. This is primarily dependent upon the type and degree of the abnormality. Unilateral multicystic kidney and hydronephrosis due to obstruction above the level of the urethra appear to be compatible with extrauterine life and should be approached accordingly. If there is massive enlargement of the fetal abdomen, elective cesarean delivery should be considered to prevent the dystocia which may occur with vaginal delivery and to prevent further damage of these vital organs. If bilateral renal agenesis, bilateral multicystic kidneys, or bilateral infantile polycystic kidneys are demonstrated early in gestation, the obstetrician and parents may choose to terminate the pregnancy because these conditions are not compatible with extrauterine life.(ABSTRACT TRUNCATED AT 400 WORDS)     

Perinatal differential diagnosis of cystic kidney disease and urinary tract obstruction: anatomic pathologic, ultrasonographic and genetic findings

According to the classification of Osathanondh and Potter of cystic kidney diseases an antenatal differential diagnosis is presented, which is based on the anatomic pathologic, ultrasonographic and genetic findings. Since the ultrasound evaluation influences the obstetric and neonatal management, each second and third trimester sonography should consider the most common malformations in pediatric autopsies. The autosomal recessive polycystic kidney disease (ARPK), autosomal dominant polycystic kidney disease (ADPK), multicystic renal dysplasia, obstructive multicystic kidneys and cystic renal malformations found in other syndromes with genetic linkage are discussed in this review.     

Prenatal diagnosis and obstetrical management of multicystic dysplastic kidney disease

Multicystic dysplastic kidney disease (MDKD) is one of the most common congenital renal anomalies. We report 16 consecutive cases of MDKD recognized in the antenatal period by sonography. Diagnosis is usually easy as MDKD has in the vast majority of cases a striking ultrasound appearance including enlargement of the kidney and multiple renal cysts. However, differentiation from obstructive uropathy may be difficult, and we made a total of five erroneous diagnoses. Unilateral MDKD has almost invariably a good prognosis. However, severe life-threatening associated anomalies were found in six cases. Therefore, a detailed survey of fetal anatomy and determination of karyotype are strongly recommended.     

Fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys

OBJECTIVES: To evaluate fetal serum ss2-microglobulin and cystatin C in the prediction of post-natal renal function in bilateral hypoplasia and hyperechogenic enlarged kidneys. Predicting post-natal renal function is crucial to the prenatal evaluation of fetal nephropathies. Prenatal ultrasound can identify terminal renal failure, but is not sensitive enough to identify infants whose post-natal renal function will be impaired. Fetal serum ss2-microglobulin and cystatin C are potential predictors of post-natal renal function. METHODS: Fifty-four prenatally diagnosed cases of bilateral nephropathy were retrospectively reviewed. Final diagnosis was established using histological or post-natal findings: renal hypoplasia (n = 7), cystic dysplasia (n = 9), autosomal dominant polycystic kidney disease (ADPKD; n = 8) or autosomal recessive polycystic kidney disease (ARPKD; n = 22) and transient sonographic abnormalities (n = 8). Fetal serum ss2-microglobulin and cystatin C were assayed respectively in 54 and 38 cases. The prognostic value of these markers was assessed in terms of the post-natal outcome. RESULTS: In bilateral kidney hypoplasia and cystic dysplasia, ss2-microglobulin and cystatin C were significantly (p < 0.0001 and p < 0.02 respectively) higher than in the normal control group. In hyperechogenic fetal kidneys (ARPKD, ADPKD and transient sonographic abnormalities), these markers were not different from controls. However, whereas normal values cannot exclude renal failure, abnormal values predict post-natal renal failure. CONCLUSIONS: In bilateral renal hypoplasia and dysplasia, fetal serum ss2-microglobulin and cystatin C are good markers for post-natal renal function. However, in bilateral renal hyperechogenic enlargement, abnormal values are associated with poor post-natal renal function, but normal values cannot preclude renal failure.     

胎儿肾脏囊性病变的产前诊断和临床预后

目的 探讨胎儿肾脏囊性病变的原因和临床意义. 方法 对64例产前超声发现胎儿肾脏囊性病变孕妇进行临床管理,如果选择终止妊娠放弃胎儿,则对患儿进行尸体解剖,并于引产时取脐血进行染色体核型分析;如果选择继续妊娠,则定期随访,严密监测. 结果 (1)8例患儿表现为单侧肾脏单发囊肿,其中3例出生后行囊肿切除术,5例无特殊治疗.(2)1例患儿为肾内局部多房性囊肿,1岁时行囊肿切除术.(3)55例患者产前诊断为胎儿多囊性肾病变,其中多囊性肾发育不良36例(27例选择了终止妊娠放弃胎儿;9例选择继续妊娠,分别于出生后3个月～2.5岁时行患侧肾脏切除);婴儿型多囊肾6例(4例选择终止妊娠放弃胎儿;2例患者选择继续妊娠,但患儿分别于新生儿期死亡和出生后13个月死亡);成人型多囊肾10例(3例选择终止妊娠放弃胎儿,2例患儿分别于出生后1个月和7个月死亡,其余5例目前临床无不适症状,正严密观察中). 结论 胎儿肾脏囊性病变类型多样,病因不尽相同,临床结局也不相同,建议产前仔细鉴别胎儿肾脏囊肿类型,根据囊肿类型对胎儿可能出现的预后给予产前合理评价及咨询意见.     

Prenatal Diagnosis of Fetal Polycystic Kidney by Ultrasound

Summary: By two-dimensional ultrasonography the presence of a polycystic kidney has been demonstrated in a fetus at the 31st week of pregnancy. The diagnosis was made by observing gross enlargement of the kidney together with fetal ascites, extreme oligohydramnios and cystic spaces in the kidney in the echograms.     

Prenatal detection of congenital heart disease: factors affecting obstetric management and survival

Our recent experience in the diagnosis and management of fetal congenital heart disease is presented. During an 18-month period from January 1985 to June 1986, 1757 fetal echocardiograms were performed on a total of 989 antenatal patients. Cardiac anomalies were accurately predicted in 74 cases, 34 of which were associated with extracardiac or chromosomal anomalies. Twenty-three pregnancies were electively terminated. Currently the survival rate for ongoing pregnancies is 17%. A false negative diagnosis was made in 16 cases, the majority involving minor anomalies with a good prognosis and a survival rate of 81%. Prenatal detection of congenital heart disease places the fetus at high risk for chromosomal and extracardiac anomalies. Congenital heart disease detectable during pregnancy is usually severe and associated with a poor long-term prognosis. Termination of the pregnancy may be a reasonable option if a severe anomaly is detected early in pregnancy.     

Hyperreactio luteinalis in a woman with high-risk factors. A case report

BACKGROUND: Hyperreactio luteinalis is a rare condition characterized by multicystic and bilateral ovarian enlargement associated with high maternal human chorionic gonadotropin serum levels. CASE: A case of spontaneous twin pregnancy, polycystic kidney and thyrotoxicosis was treated conservatively. CONCLUSION: In this case, hyperreactio luteinalis was associated with twin pregnancy in a woman with preexisting renal failure. The association of other endocrinopathies, such as hyperthyroidism and diabetes mellitus, creates a clinical problem that could be quite hazardous in pregnancy if this association is not detected.     

Autosomal dominant polycystic kidney disease in pregnancy complicated by twin gestation and severe preeclampsia: a case report

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), an autosomal dominant genetic disorder with a reported prevalence of 1 in 1,000, may be associated with hypertensive disease in pregnancy. The evaluation of a pregnant woman with an adult-onset genetic disorder is complex and involves counseling about inheritance, prenatal diagnosis and management of the current pregnancy. CASE: A 33-year-old woman presented for obstetric care with a history of hypertension and ADPKD for 6 years. The patient had secondary infertility, which was treated by in vitro fertilization. The case was complicated by twin gestation and superimposed severe preeclampsia, leading to preterm cesarean delivery at 26 weeks' estimated gestational age. CONCLUSION: Because of the heritable nature of ADPKD and the long-term risk of end-stage renal disease requiring dialysis and/or renal transplantation, the evaluation and counseling of women with ADPKD who are pregnant or considering pregnancy should include a discussion of the modes of inheritance, natural history, available prenatal diagnostic options, and pregnancy risks and management options. Specific counseling issues in this case include the genetic concepts of variable expression and penetrance and the medical management of chronic hypertension and preeclampsia.     

Non-syndromic association of congenital hepatic fibrosis and bilateral cystic renal dysplasia.

Congenital hepatic fibrosis (CHF) is associated with autosomal recessive polycystic kidney disease (ARPKD). Although cystic renal dysplasia (CRD) is the most common form of newborn cystic renal disease, this disorder of anomalous metanephric differentiation is only rarely found concurrent with CHF. Our literature review found only 13 sporadic and 12 familial non-syndromic cases of combined bilateral CRD and CHF reported outside Taiwan. We report the first domestic case, occurring in a fetus of 18 weeks' gestational age, which was the second pregnancy of a 24-year-old mother with a previous history of spontaneous abortion at 10 weeks' gestational age. Postmortem autopsy confirmed the concurrence of bilateral CRD and CHF without associated anomalies of other visceral organs and external appearance. This particular association must be differentiated from ARPKD and liver disease, in regard to ultrasonographic examination and genetic counseling.     

Antenatal diagnosis of renal anomalies with ultrasound. IV. Bilateral multicystic kidney disease

Bilateral multicystic kidney disease is a congenital disorder that is fatal in the newborn period. A series of nine cases of bilateral multicystic kidney disease diagnosed prenatally by ultrasound is presented. Ultrasound criteria necessary for the diagnosis are bilateral multicystic kidneys, loss of renal architecture, nonvisualization of the fetal bladder, and absence of amniotic fluid. Seven of the nine cases had autopsy confirmation of the diagnosis. Three cases had other associated congenital anomalies. Precise prenatal diagnosis may allow patients the option of elective abortion or may prevent unnecessary obstetric intervention. We propose that a reliable diagnosis can be made with prenatal ultrasound.     

Fetal hyperechogenic kidney with normal amniotic fluid volume: a diagnostic dilemma

OBJECTIVE: To determine the prognostic value of sonographically detected fetal hyperechogenic kidneys with normal amniotic fluid volume. METHODS: Seven cases of hyperechogenic fetal kidneys were identified by sonography over a 7-year period (1996--2002). Increased renal echogenicity was diagnosed when the renal parenchyma was of greater echogenicity than adjacent liver tissue. Amniotic fluid volume was measured by the semiquantitative sonographic technique known as the amniotic fluid index (AFI). RESULTS: Three of the live-born infants had autosomal dominant polycystic kidney disease and one had autosomal recessive polycystic kidney. In the remainder, autopsy study revealed multifocal renal dysplasia in two cases and normal kidneys in one. CONCLUSIONS: Increased renal echogenicity with normal amniotic fluid volume in a fetus without other anomalies is a difficult diagnostic dilemma. Although it is usually indicative of renal parenchymal disease with possible renal failure after birth or in early childhood, in some cases, it represents a normal variant. .     

Profile of serum estriol and its conjugates at delivery and in the immediate postpartum period in a patient with severe polycystic kidney disease: a comparison with normal pregnancy

A patient with group C polycystic kidney disease had abnormally high concentrations of total serum estriol (E3) but low-normal urinary levels of E3 throughout the period of study (20 weeks of gestation until delivery by cesarean section at 33 weeks, 5 days). At delivery and at regular intervals until 6 hours thereafter serum specimens were analyzed for unconjugated E3 and its four major conjugates. Comparisons were made with levels in three normal volunteer subjects studied in the same way. In the 6 hours, total E3 declined 37% in the subject with polycystic kidney disease whereas in normal subjects the decline ranged from 84% to 99%. Unconjugated E3 was depleted from the serum in all subjects in about 2 hours. The major difference between the patient with polycystic kidney disease and the normal subjects was in the profile of E3 conjugates. In polycystic kidney disease, E3-3-glucosiduronate (E3-3G) and E3-3-sulfate-16-glucosiduronate (E3-SG) respectively made up 83% and 1.8% of the total serum estriol, whereas in the normal subjects the average values were 13% for E3-3G and 49% for E3-SG. There were no consistent dramatic changes in the percentage contribution of any conjugate to the total E3 level in either the patient with polycystic kidney disease or the normal subjects in the predelivery or postdelivery periods. The E3 profile in polycystic kidney disease is explainable in terms of impaired renal function coupled with normal enterohepatic metabolism of E3.     

Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease

The prenatal diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is now being reported with increasing frequency. We report three cases and review 12 cases of ADPKD diagnosed in the fetus by ultrasonographic findings. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ADPKD. Renal cysts are uncommon. Diagnosis is easy in a family with a positive ADPKD history. Conversely, there may be no apparent family history, as in our three cases and three cases from the literature. We consider the problems of unexpected diagnosis, family investigation, and the prognosis of ADPKD in children with prenatally diagnosable forms.     

Neonatal complications in small-for-gestational age neonates

A prospective case-control study was carried out in 118 severely small-for-gestational age (SGA) infants and in 118 control infants born during 1985 in the catchment area of the University Central Hospital of Turku to investigate the neonatal complication rate in SGA infants during modern obstetric and neonatal care. All SGA infants had a birth weight below the 2.5th percentile in our fetal growth curve and the control infants were matched for gestational age and mode of delivery. Neonatal complications were found in 42% of SGA neonates compared to 18% of control infants. Hypoglycemia, polycythemia and abnormal neurologic symptoms were more frequently found in SGA neonates than in control neonates. Asphyxia was found in 16% of SGA infants and in 8.5% of control infants. A five-fold risk for hypoglycemia and a eight-fold risk for abnormal neonatal neurologic signs in SGA infants were found. SGA boys had more often asphyxia (22% versus 12%) and hypoglycemia (25% versus 5%) than SGA girls. The antenatal diagnosis of SGA infant was made in 35 cases (30%). Of these diagnosed infants 14 were delivered by cesarean section (39%), while the cesarean section rate in all SGA infants was 27%. Although antenatal diagnosis of poor intrauterine growth did not decrease the neonatal complication rate, the antenatal diagnosis resulted in more active intervention during delivery. The SGA infants still run an increased risk for complications during delivery and neonatal period and need special attention.     

Neonatal renal cystic diseases

Purpose: Neonatal renal cystic diseases have a great impact on the morbidity and mortality of the affected neonates and infants. A good insight into the pathophysiology, diagnosis and treatment options of various neonatal renal cystic diseases aid in early diagnosis and intervention, thereby preventing complications.

Methods: PubMed search was done for articles on "neonatal renal cystic diseases" and relevant publications including reviews were considered for our article.

Results: Both hereditary and nonhereditary causes of cystic kidney diseases can result in severe morbidity and mortality. The main diagnostic modality is ultrasound imaging and most of the neonatal renal cystic diseases are detected during prenatal ultrasound screening. Commonly encountered neonatal renal cystic diseases are autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease and multicystic dysplastic kidney.

Conclusions: A thorough knowledge of various renal cystic diseases can be of extreme prognostic value. Physicians should be aware of the impact of early diagnosis and intervention on the lives of those affected. Further research about treatment of these diseases is ongoing and can result in breakthrough therapies for these patients.     

The yield of early postnatal ultrasound scan in neonates with documented antenatal hydronephrosis

We retrospectively assessed the yield of early postnatal ultrasound scans in neonates with documented antenatal hydronephrosis. We reviewed recording data of prenatal renal ultrasound for 178 newborn infants and the results of renal ultrasound performed during the first days of life. Of 119 infants with prenatal diagnosis of mild hydronephrosis (renal pelvic diameter <10 mm), 116 (97.5%) had postnatal ultrasound results showing normal or mild hydronephrosis. Prenatal diagnosis of severe hydronephrosis (renal pelvic diameter >20 mm; 10 infants) was correlated with high incidence (90%) of moderate and severe postnatal hydronephrosis. Prenatal diagnosis of moderate hydronephrosis (renal pelvic diameter 10 to 20 mm) resulted in moderate postnatal hydronephrosis in 20% and improvement in 80% of the newborn infants. Our evidence supports the option of delaying postnatal renal ultrasound in infants with prenatal diagnosis of mild hydronephrosis (renal pelvic diameter <10 mm). This strategy can safely reduce the number of early postnatal studies and consequently significantly decrease hospitals' inpatient workload.     

Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.

We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. Color Doppler imaging demonstrated no blood flow signals from renal vessels. Fetal blood sampling confirmed a 47,XX,+9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.