Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios

OBJECTIVE: Our purpose was to examine the potential of color flow imaging to assess the presence of renal arteries in second-trimester pregnancies complicated by severe oligohydramnios.STUDY DESIGN: Thirty-three consecutive second-trimester pregnancies referred with severe oligohydramnios were prospectively studied with high-resolution color Doppler ultrasonography to establish the presence or absence of renal arteries. Prenatal findings were correlated with the presence or absence of fetal kidneys at postmortem or postnatal examination.RESULTS: Neither renal artery was visualized in eight fetuses; postmortem examination confirmed bilateral renal agenesis in seven and unilateral renal agenesis with a contralateral atrophic multicystic kidney in the other. Only one renal artery was seen in three; postmortem examination demonstrated unilateral renal agenesis in two fetuses and bilateral multicystic dysplastic kidneys in the other. Postmortem or postnatal evaluation confirmed the presence of both kidneys in all 22 fetuses in which both renal arteries were identified prenatally.CONCLUSIONS: Color Doppler ultrasonography is useful in the prenatal evaluation of fetuses with severe second-trimester oligohydramnios to demonstrate the presence or absence of renal arteries. This technique should be added to the armamentarium of prenatal tests to evaluate second-trimester fetuses with severe oligohydramnios.     

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.     

A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1

ObjectiveWith this case report, we would like to highlight the importance of a multidisciplinary approach and atypical findings of congenital high airway obstruction sequence (CHAOS), anhydramnios, and renal dysgenesis in the prenatal diagnosis of Fraser syndrome (FS).Case reportA 25-year-old primigravida at 19 weeks of routine anomaly scan revealed abnormal sonographic findings such as fetal bilateral dysplastic small kidneys and gross oligohydramnios. The further detailed evaluation revealed that both fetal lungs were hyperechogenic with prominent (dilated) trachea and bronchi suggestive of CHAOS. Based on these findings, a diagnosis of FS was suspected. The couple was counseled and the pregnancy was terminated. The postmortem evaluation and novel homozygous variant in the FRAS1 gene confirmed the diagnosis of FS.ConclusionThe diagnosis and counseling of the patient were supported by a well-coordinated, multidisciplinary approach involving an obstetrician, a fetal medicine specialist, a medical geneticist, and a fetal pathologist.     

Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings

A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis.     

Prenatal diagnosis of sirenomelia

OBJECTIVE: What kind of diagnostical methods are usual to detect fetal sirenomelia? MATERIAL AND METHODS: The prenatal diagnosis of fetal sirenomelia combined with bilateral renal agenesis, oligohydramnios and single umbilical artery in a 24-year-old woman, gravida 2, para 1, at a gestational age of 18 + 3 weeks is described in this case report. RESULTS: This fetal malformation was an accidental sonographic found, and caused after confirming diagnosis by amnoinfusion and amniocentesis, the termination of pregnancy. Genetic examination revealed tetrasomia 13. CONCLUSIONS: The sonographic finding of oligohydramnios should cause an exactly sonographical examination with amnioinfusion. In case of sirenomelia genetical examination is necessary.     

Bilateral renal agenesis and fetal ascites in association with partial trisomy 13 and partial trisomy 16 due to a 3:1 segregation of maternal reciprocal translocation t(13;16)(q12.3; p13.2).

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal reciprocal translocation 13;16. Prenatal ultrasound of a 29-year-old, gravida 2, para 0 woman at 22 gestational weeks showed fetal ascites, severe oligohydramnios and non-visualization of fetal urinary bladder and kidneys. The pregnancy was terminated. At delivery, the proband displayed dysmorphic features of hypertelorism, a prominent glabella, epicanthic fold, a stubby nose with a depressed nasal bridge, anteverted nares, thin lips, micrognathia, low-set ears, a short neck and a distended abdomen. Necropsy confirmed bilateral renal agenesis and ascites. A cytogenetic study performed on fibroblasts obtained from the proband's skin revealed an extra supernumerary chromosome. The mother was later found to have a reciprocal translocation. Fluorescence in situ hybridization for a submicroscopic deletion in chromosome 22q11 in the proband was negative. The parents had no urological anomalies. Our observation further extends the clinical spectrum associated with proximal trisomy 13q and distal trisomy 16p. We suggest prenatal cytogenetic analysis in fetuses with urological anomalies, including renal agenesis, to uncover underlying genetic disorders.     

Oxytocin secretory response to breast stimulation in pregnant women

Infantile polycystic kidney disease in an autosomal recessive disorder which in its severe form is characterized by bilateral renal enlargement and renal failure. The present study was undertaken to assess the diagnostic accuracy of antenatal sonography in a population at risk. Nineteen patients with fetuses at risk for infantile polycystic kidney disease were referred for ultrasound examination to the Perinatal Unit at Yale-New Haven Hospital. Ten infants had infantile polycystic kidney disease (53%). A positive antenatal sonographic diagnosis was made by the presence of oligohydramnios, an absent urinary bladder, bilateral renal enlargement as measured by the kidney circumference-to-abdominal circumference ratio, and the typical hyperechogenic appearance of the kidneys in the disease. A correct antenatal diagnosis was made in nine of the 10 affected infants. There were no false positive diagnoses. A false negative diagnosis occurred in an infant with a less severe form of the disease. Ultrasound is a valuable tool in the antenatal diagnosis of infantile polycystic kidney disease.     

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.     

First trimester diagnosis of sirenomelia: a case report and review of the literature

Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.     

Size of the fetal adrenal in bilateral renal agenesis

Bilateral renal agenesis is a fetal malformation incompatible with extrauterine life. Accurate prenatal diagnosis is essential for patient counseling. False-negative diagnoses have been reported and were attributed to the sonographic misidentification of apparently hypertrophied fetal adrenal glands as fetal kidneys. To study the relationship between renal agenesis and adrenal size, we reviewed autopsy records from 11 affected fetuses that had undergone careful autopsy and organ weight determination in our laboratory. Anomalies of distant structures were present in five affected fetuses. A sonographic diagnosis of adrenal hypertrophy had been made in two cases. In four of 11 fetuses, the glands had taken on a flattened discoid appearance. The autopsy records of 240 normal fetuses were similarly reviewed, and regression lines were generated for adrenal weight based on foot length and crown-rump length. The adrenal weights from affected fetuses were well within normal limits when compared with these normal regression lines and with organ weight standards from the literature. We conclude that adrenal hypertrophy is not a common finding in this syndrome and that the reported false-negative diagnoses are more likely attributable to a change in adrenal shape rather than a true increase in adrenal mass.     

Perinatal management of fetal hydronephrosis with normal bladder

This report covers 30 cases of prenatal diagnosis of uni- or bilateral hydronephrosis not associated with an overdistended bladder. Oligohydramnios was observed only in four cases while polyhydramnios occurred in three affected fetuses. In no case was fetal urine aspirated or drained prenatally. Early delivery was performed in four cases with oligohydramnios. Sixteen newborns required surgical correction of the lesion as it was confirmed by urography, following at least two sonographic examinations which confirmed a moderate to severe hydronephrosis after birth. The most frequent lesion was pyelo-ureteric junction obstruction (12 cases). Thirteen cases were normal at follow-up, and in two of these the dilation cleared up during intrauterine life. One case of severe hydronephrosis proved to be a multicystic kidney. In this series isolated hydronephrosis, both uni- or bilateral did not result in fetuses being at high risk for survival (only one infant died after surgery) nor as regards to associated malformations and perinatal morbidity. Provided a properly timed surgical correction was performed, renal function resulted to be good at follow-up.     

FHR patterns in Potter's Syndrome

The antenatal diagnosis of POTTER's Syndrome (bilateral renal agenesis) is important in order to avoid delivery by cesarean section of newborns with congenital anomalies incompatible with life. In seven cases of this syndrome delivered at the Hasharon Hospital, a similar FHR pattern was retrospectively observed in pregnancy and labor suggesting that electronic fetal monitoring (EFM) may possibly contribute to the diagnosis of this condition in utero. Nevertheless, it must be emphasized, that similar cardiotocographic alterations may result from umbilical cord and/or placental compression in the presence of severe oligohydramnios. The latter may, concurrent with POTTER's Syndrome, predispose to changes in intraamniotic pressure transmitted to fetal autonomic centers. Thus, these variations in FHR pattern may be of value only if the presence of other signs of POTTER's Syndrome is confirmed by a reliable ultrasound examination. Further observations of antenatal FHR patterns in a large number of cases of this syndrome may establish their value in the antenatal diagnosis of POTTER's Syndrome.     

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.     

Bilateral renal agenesis (Potter's syndrome) in two consecutive infants.

Bilateral renal agenesis is a relatively rare congenital anomaly; its frequency is 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. This anomaly is most often found in combination with characteristic facial features ('Potter's face') and pulmonary hypoplasia, the combination being known as Potter's syndrome. In the course of pregnancy an increasing oligohydramnios becomes manifest; during labor, virtual absence of amniotic fluid is found in most cases. This oligohydramnios should alert the obstetrician to suspect Potter's syndrome; serial ultrasonography may confirm the diagnosis. Most affected children are born alive but die within a few hours due to respiratory difficulties caused by the pulmonary hypoplasia. Despite the remarkable facial characteristics of these infants, it was only in a small minority that the diagnosis was considered before autopsy. This stresses the need for a full post-mortem examination in all cases of perinatal death. The etiology is still uncertain, though multifactorial inheritance is the most likely. As a consequence, the recurrence risk is not negligible; the small number of 'familial occurrence' observations, however, does not allow estimation of a risk figure. Genetic counseling is indicated in any family giving birth to a child with bilateral renal agenesis. A family is described in which two consecutive male infants with bilateral renal agenesis were born alive and survived 19 and 38 h.     

Penile agenesis complicated by Potter sequence

We present a case of penile agenesis complicated by multicystic dysplastic kidneys and urethral agenesis, which resulted in oligohydramnios, pulmonary hypoplasia and neonatal death. In this case, no external urethral opening was found, and the gastrointestinal tract showed no anomaly. Cases of penile agenesis complicated by Potter sequence with urethral agenesis should be differentiated from those with ectopic urethral openning.     

Meckel syndrome: genetics, perinatal findings, and differential diagnosis

Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum alpha-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.     

Oligohydramnios and fetal cerebral blood flow

Summary. Blood flow velocity waveforms in the fetal internal carotid artery were recorded in five pregnancies complicated by prolonged severe oligohydramnios due to bilateral renal agenesis. End-diastolic flow velocity was reduced, absent or even reversed, resulting in a raised pulsatility index in all five cases. These data suggest that prolonged severe oligohydramnios may hamper cerebral blood flow through fetal head compression.     

Prenatal diagnosis of Meckel syndrome: a case report.

OBJECTIVE: To demonstrate the major sonographic findings associated with Meckel syndrome and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. SUBJECTS: Two fetuses with prenatal diagnosis of Meckel syndrome were sonographically evaluated. RESULTS: Both fetuses were demonstrated to have evidence of renal cystic dysplasia, occipital cephalocele and postaxial polydactyly. One case was diagnosed at 16 weeks of gestation whereas the other was detected at 36 weeks. Of interest, the first case had only unilateral renal cystic dysplasia and contralateral renal agenesis and mild degree of oligohydramnios. The other related anomalies which were not detected prenatally included cerebellar hypoplasia in case 1 and micrognathia in case 2. CONCLUSION: The main sonographic findings included renal cystic dysplasia, occipital cephalocele and postaxial polydactyly.     

Prenatal diagnosis of autosomal recessive polycystic kidney disease by ultrasonography and magnetic resonance imaging.

Autosomal recessive polycystic kidney disease is a relatively rare congenital disease affecting the kidneys and liver. We noticed the kidney abnormality at 22 weeks gestation and observed the patient till the delivery at 36 weeks of gestation. The ultrasonographic features consisted of bilaterally enlarged hyperechogenic kidneys, oligohydramnios, lack of distention and difficulty in identifying the fetal urinary bladder. The serial sonographic features of the kidneys changed as pregnancy progressed. The kidney cysts gradually changed in size, shape and renal texture, but the umbilical velocimetry and the kidney circumference/abdominal circumference ratio did not change. Magnetic resonance imaging also showed similar characteristic features as observed by ultrasonography.     

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. .