The Potter sequence: A clinical analysis of 80 cases

Abstract

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.

Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus

“…First, the marked oligohydramnios which occurs in all fetuses with BRA does not manifest until after 14 weeks of gestation, when fetal urine production makes an appreciable contribution to amniotic fluid volume. However, this case illustrates, as have previous reports [Curry et al, 1984, Morse et al, 1987 that oligohydramnios will be seen by 16-18 weeks gestation in the absence of fetal kidneys. Second, oligohydramnios and/or BRA may be associated with an elevated maternal serum alphafetoprotein [Freling et al, 19831.…”

A Quantitative Study of Normal Nephrogenesis in the Human Fetus: Its Implication in the Natural History of Kidney Changes due to Low Obstructive Uropathies

“…The obstructive uropathy and the renal lesions could result from a common disor dered mesodermal development [31,32], In this hypothesis, a uniform morphological and clinical pattern should be expected in opposi tion with the variability of observed situa tions, and the proved benefit of in utero deri vation [33], Anatomical stenosis should be constant in contrast with reported observa tions [7][8][9][10] and as seen in cases 15 and 17. Some experimental data favored this theory: ureteral ligation in lambs [34], rabbits [35] or chicks [36] produced hydronephrosis without 380 Gasscr/Mauss/Ghnassia/Favre/Kohler/ Nephrogenetic Repercussions of Yu/Vonesch Obstructive Uropathies dysplasia.…”

“…It is cer tain that no functional benefit can be ob tained in this situation from a vesicoamniotic shunt. In case of either a normal or at least partial amount of nephrogenic blastema, one can expect recovery of nephrogenic capacity with an either normal or partial pattern (cases 1,2,3,7,8,12,15). However, many questions remain unanswered.…”

“…The oligohydramnios sequence was revealed by characteristic facial abnormalities and limb deformi ties [7], The lungs were considered to be hypoplastic when there was an abnormal lung to body weight ratio and/or an abnormal radial alveolar count [11,12]. The abdominal wall muscles were studied through histolog ical scanning of subumbilical transversed samples in volving the entire abdominal wall, and compared with normal ones in age-matched nonmalformed fetuses.…”

Fetal Renal Defects: Associated Malformations and Chromosomal Defects

“…Data on antenatally diagnosed renal defects are derived from a small number of often unclassified 'renal defects' and the reported incidence of associated chromo somal abnormalities varies from 2 to 33% (ta ble 1) [2][3][4][5][6][7][8][9][10][11][12][13]. The aim of this study was to determine the incidence of chromosomal abnormalities in a large series of antenatally diagnosed renal de fects, including mild hydronephrosis, moder ate/severe hydronephrosis, multicystic dys plasia and renal agenesis.…”