Renal agenesis: Spectrum of in utero findings

Kurtz, Alfred B.; Wapner, Ronald J.; Goldberg, Barry B.

doi:10.1002/jcu.1870090408

Cited by 37 publications

(8 citation statements)

References 16 publications

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“…Recommendations include serial ultrasound beginning at 14-16 weeks' gestation, with specific attention to the amount of amniotic fluid, the presence or absence of kidneys and bladder, and the demonstration of bladder filling in response to maternal furosemide challenge (Keirse and Meerman, 1978;Romero et al, 1985;Kurjak et al, 1984). Because discoid adrenal glands may mislead the ultrasonographer by occupying the renal beds, it is felt that the presence or absence of the fetal bladder is a more reliable sign (Dubbins et al, 1981). Ultrasound studies of the genitourinary tract are important not only for the affected fetus but also for the parents, siblings, and other first degree relatives.…”

Section: Discussionmentioning

confidence: 99%

Bilateral renal agenesis in three consecutive siblings

et al. 1987

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We report here an unusual recurrence of bilateral renal agenesis (BRA) in three consecutive siblings. Chromosome analysis was normal, as were renal ultrasound studies on both parents and their surviving child. Ultrasound was employed prenatally to diagnose Potter's syndrome in both of the recurrences, and autopsy confirmed BRA in otherwise normal fetuses. Recurrence of BRA points to the usefulness of ultrasound in monitoring subsequent pregnancies in couples who have had one such occurrence. Ultrasound studies should also be performed in non-affected family members to detect the presence of asymptomatic anomalies of the genitourinary system, but a negative family study does not preclude recurrence of BRA.

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Section: Discussionmentioning

confidence: 99%

Bilateral renal agenesis in three consecutive siblings

et al. 1987

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“…Additional longitudinal and extended family studies utilizing renal ultrasonography are needed in order to provide this information. The prenatal ultrasonographic diagnosis of renal agenesis and cystic dyplasia has been reported by several investigators [Kaffe et al, 1976;Bartley et al, 1977;Cass et al, 1981;Dubbins et al, 1981;Hadlock et al, 1981;Schmidt et al, 19821. High-resolution ultrasound studies should be offered to all such families to monitor for recurrence beginning at 16 weeks gestation.…”

Section: Possible Teratogenic Disruptionsmentioning

confidence: 93%

The Potter sequence: A clinical analysis of 80 cases

et al. 1984

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Eighty cases of Potter sequence due to a renal or urologic abnormality were studied retrospectively. The abnormal renal findings were bilateral renal agenesis in 21.25%; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%. Fifteen patients had multiple congenital anomalies; of these three had aneuploidy, four had autosomal recessive syndromes, and eight were of unknown cause. Results of chromosome analysis in 41 patients and 21 sets of parents were abnormal in three patients, one of whom had a balanced translocation carrier parent; two additional patients and three parents had apparently balanced translocations. There was one recurrence within the study (the first child had bilateral renal agenesis and the second cystic dysplasia). The ultrasound prenatal diagnosis of the renal abnormality was made in eight cases between 18 and 34 weeks. Family histories were suggestive of an autosomal dominant gene disorder with incomplete penetrance in four of 45 families with nonsyndromic bilateral renal agenesis and cystic dysplasia. The evaluation of patients with the Potter sequence should include an examination for nonrenal defects, autopsy, chromosome analysis, and renal ultrasound or urologic evaluation of parents. Ultrasonographic prenatal monitoring of subsequent pregnancies in such families is strongly warranted because of a definite but unknown degree of recurrence risk.

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“…The intrauterine diagnosis was based mainly on gradually developing oligohydramnios, an atypical or absent urinary bladder, and failure to demonstrate the kidneys (Romero et al, 1985). However, there have been several reports of possible pitfalls in the sonographic diagnosis of this lethal syndrome, mainly due to the sonographic appearance of the adrenals as uniform structures in the retroperitoneal renal bed (Dubbins et al, 1987;Jeanty et al, 1984;McGohan and Myracle, 1986;Romero et al, 1985;Silverman et al, 1980;Volberg et al, 1989). gestation of a normal fetus (between arrows).…”

Section: Discussionmentioning

confidence: 99%

The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls

et al. 1994

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Out of 13,252 cases in which fetal bilateral echogenic kidneys were detected by transvaginal sonography between 12 and 18 weeks' gestation, there were nine fetuses where oval hypoechogenic masses were detected in the renal bed. In five fetuses where hypoechogenic masses in the renal bed were sonographically visualized, postabortal examination was compatible with renal agenesis and the hypoechogenic masses proved to be enlarged adrenals. In three additional cases, unilateral renal agenesis was accompanied by unilateral enlarged adrenals, radiologically confirmed postnatally. In one case, a false-positive sonographic diagnosis of Potter syndrome was made because of bilateral hypoechogenic masses in the renal bed. Postabortal examination detected hypoplastic kidneys, but of normal histology, in a dyskaryotic fetus with trisomy 22. In four cases of renal agenesis, the amniotic fluid was of normal volume until the 17th week. In two of the five cases of Potter syndrome, a cystic structure, compatible with the urinary bladder, was detected in the pelvis at 14 weeks. The diagnostic criteria for renal agenesis in the early fetus differ from those used in the second half of gestation.

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Renal agenesis: Spectrum of in utero findings

Cited by 37 publications

References 16 publications

Bilateral renal agenesis in three consecutive siblings

Bilateral renal agenesis in three consecutive siblings

The Potter sequence: A clinical analysis of 80 cases

The early prenatal sonographic diagnosis of renal agenesis: Techniques and possible pitfalls

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