Oligohydramnios Sequence Research Articles

Potter's syndrome in the second trimester--prenatal screening and pathological findings in 60 cases of oligohydramnios sequence.

Fifty-two second-trimester and eight third-trimester (> 28/40) autopsies with clinical or pathological evidence of oligohydramnios sequence ('Potter's syndrome') were reviewed. Twenty-eight cases had renal anomalies (71 per cent in terminations following prenatal ultrasound), 27 had no renal malformation (35 per cent with chorioamnionitis), and five had external assessments only. In 15 cases, the renal lesion was part of a multiple malformation syndrome. Seven cases had a lesion which either recurred in a sibling in the same family or was a recognized autosomal recessive syndrome. Three cases had an abnormal karyotype, two of which had renal anomalies. Maternal serum alpha-fetoprotein (AFP) did not discriminate between cases with renal malformations and those without. Pulmonary hypoplasia was commoner in third-trimester than in second-trimester cases. External appearance and absent umbilical artery were not reliable predictors of underlying internal anomalies. These findings reflect the shift from postnatal to prenatal diagnosis in modern practice. In this series, mainly second-trimester cases, 50 per cent of cases had no malformations, in a condition which is traditionally associated with renal disease. The high incidence of chorioamnionitis suggests that the mechanism of oligohydramnios is occult amniotic fluid leakage. Prenatal diagnosis of oligohydramnios in the second trimester is dependent on ultrasound scanning and a full post-mortem examination is necessary to identify any underlying fetal cause.

Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen Years

Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn fetus, a termination of pregnancy following prenatal diagnosis or death within 28 days postnatally, were studied. Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusick 253310), fifteen with milder anterior horn cell involvement, and ten with dysgenesis and degeneration of the CNS. Congenital muscular dystrophy was seen in two cases and nemaline myopathy in one case. A non-neuromuscular basis was established in ten cases, and the cause remained obscure in three cases. Apart from the autosomal recessive LCCS, the fifteen cases with anterior horn cell involvement made up a uniform clinico-pathological entity. In two families this disease recurred twice, and autosomal recessive inheritance is therefore likely. Recurrence was also seen twice in a family with central nervous system degeneration and in another with the oligohydramnios sequence. There are apparently several recessively inherited entities among the arthrogryposis phenotype. A careful clinical study and a neuropathological examination are essential for estimating the recurrence risk.

Oligohydramnios sequence: the spectrum of renal malformations.

To assess the value of the autopsy findings on a series of infants dying with features of the oligohydramnios sequence, with particular reference to anomalies of the renal tract. Retrospective review. Pathology departments serving three maternity units in Manchester. Eighty-nine infants having an autopsy examination between 1976 and 1990. Thirty-two (34%) infants had bilateral renal agenesis, 30 (34%) had bilateral cystic dysplasia, eight (9%) had unilateral agenesis with unilateral cystic dysplasia, four (4%) had renal histology characteristic of a recessively inherited disorder (two cases of renal tubular dysgenesis and two cases of autosomal recessive (infantile) polycystic disease), nine (10%) had minor urinary tract anomalies, and three (3%) had morphologically normal renal tracts. Forty-eight (54%) infants had congenital abnormalities other than those resulting from oligohydramnios sequence; most commonly, these were anomalies of the sporadic VATER association, but in four infants the extra renal anomalies present allowed recognition of a recessively inherited syndrome (Meckel's in three cases, Smith-Lemli-Opitz in one). A detailed autopsy is vital in assessment of infants with oligohydramnios sequence resulting from a congenital abnormality of the kidneys or urinary tract. This applies equally to second trimester fetuses following miscarriage or therapeutic abortion, to stillborn infants, or to neonatal deaths.

Penile agenesis associated with urethral and bilateral renal agenesis

Penile agenesis is a rare anomaly, with an estimated incidence of 1 in 30 million. Most cases are compatible with life but require early surgical intervention. This case is unusual in that there was an associated agenesis of the kidneys and urethra leading to fatal oligohydramnios sequence with pulmonary hypoplasia.

Brain defects in infants with Potter syndrome (oligohydramnios sequence)

Defects of neuronal migration were detected in the brains of five unrelated infants with Potter syndrome (oligohydramnios sequence). These consisted of abnormal lamination of cerebral cortex, white matter heterotopias, and meningeal and molecular zone neuronal-glial ectopias. Besides, various other brain anomalies were sometimes found. They comprised one or more of the followings: abnormal gyration patterns (gyral fusion, cerebellar microgyria), cerebellar granule and Purkinje cell heterotopias, brain stem heterotopias, adysplasia of basal ganglia, gliosis, mineralization, and hydrocephalus. Detailed investigations, using standard neuropathologic stains, immunohistochemical and Golgi methods, and a new electron microscopic histochemical technique that we applied to study the developing human brain, suggest that migration defects of neurons are caused by an abnormality in their glial guides, the radial glial fibers, during the period of cortical histogenesis. We hypothesize that abnormally and precociously induced radial glial transformation into astrocytes is the pathogenic mechanism for the defects in neuronal migration. The etiological factor(s) that precipitates such abnormal glial transformation seems to be heterogeneous. Its relation to the Potter anomaly is discussed.

Long bone development in extrinsic fetal akinesia: an experimental study in rat fetuses subjected to oligohydramnios.

The transverse growth of long bones during intrauterine development was studied in rat fetuses subjected to experimental oligohydramnios in order to determine whether the skeletal changes, if any, in extrinsic fetal akinesia were similar to those observed in curarized rat fetuses with the fetal akinesia deformation sequence. Oligohydramnios was induced by daily extraction of amniotic fluid from day 17 of gestation until term. Experimental fetuses were compared with a sham-operated control group. The total area and perimeter, the absolute and relative amount of periosteum and bone trabeculae, the major and minor axes, and the elongation factor were measured in histological cross sections of the femoral metaphysis and diaphysis with an IBAS 1 image analysis system. Rat fetuses in the experimental group showed multiple articular contractures, redundant skin, and lung hypoplasia, a phenotype consistent with the oligohydramnios sequence. No alterations in femoral shape and transverse growth of the metaphysis and diaphysis were noted in these fetuses. These results suggest that the main mechanical factor related to fetal bone modeling is muscular strength, while motion would be mainly involved in fetal joint development.

Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence

This article briefly reviews the participation of fetal compression, muscular weakness, and fetal akinesia in the genesis of the anomalies found in fetal akinesia deformation sequence (FADS) and oligohydramnios sequence (OS). Both sequences share phenotypic manifestations, such as arthrogryposis, short umbilical cord, and lung hypoplasia, in relation to decreased intrauterine fetal motility. Other characteristic manifestations found in OS, such as Potter face, and redundant skin, are produced by fetal compression. On the other hand, growth retardation, craniofacial anomalies, micrognathia, long bone hypoplasia, and polyhydramnios found in FADS could be related to intrauterine muscular weakness.

Oligohydramnios sequence in a live‐born infant following chorionic villus sampling

We describe an infant born at 29 weeks' gestation with oligohydramnios sequence due to amniotic fluid leakage following chorionic villus sampling at 12 weeks. To our knowledge, this is the first such report.

Extrinsic fetal akinesia and skeletal development: A study in oligohydramnios sequence

Long-bone morphometry and cephalometry were performed in 13 newborns with oligohydramnios sequence (OS) in order to establish whether or not skeletal changes existed in extrinsic fetal akinesia similar to those observed in the fetal akinesia deformative sequence (FADS) (i.e., hypoplastic long bones and micrognathia). Oligohydramnios sequence was caused by bilateral renal agenesis in five cases and obstructive uropathy in eight cases. Twenty-one stillborns and newborns who had died from conditions other than renal anomalies or congenital malformations were used as controls. Normal longitudinal and periosteal long-bone growth and absence of micrognathia were found in OS patients. Skeletal differences between FADS and OS may be explained not only by timing, duration, and degree of reduced motility but also, and more importantly, by the normal muscular stress in OS patients.

Erythropoietin levels and erythropoiesis at birth in infants with Potter syndrome

Increases in blood erythropoietin concentration occur after tissue hypoxemia of anemic, ischemic, or hypoxic origin. In the adult, the site of production is the kidney; in the fetus it is thought to be the liver. 1-5 In the developing sheep there appears to be a gradual liver-to-kidney switch in the site of Ep synthesis; this normally begins about 1 month before term and is completed by 2 months of age. 1 Although at birth one strain of mice born with renal agenesis had normal bioassayable erythropoietin concentrations in the blood and normal erythropoietic activity, z no data regarding erythropoiesis are available on human infants born with severe renal disease manifesting as Potter syndrome (oligohydramnios sequence). The purpose of our study was to determine whether blood and tissue levels of Ep and indicators of erythropoiesis are normal at birth in infants with severe congenital renal disease.

Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use

We present the case of a child who died of pulmonary hypoplasia as a result of the oligohydramnios sequence. The mother was taking enalapril, as well as propranolol and hydrochlorothiazide, for treatment of hypertension associated with systemic lupus erythematosus. Autopsy examination revealed severe renal tubular malformation. Correlation of animal data with previous case reports of neonatal anuria in association with maternal angiotensin converting enzyme inhibitors suggests that these agents may have a deleterious effect on fetal renal development and general well-being.

1315 SYNDROMIC AND ISOLATED CRYPTOPHTHALMOS

Cryptophthalmos syndrome is an autosomal recessive pattern of malformation characterized by cryptophthalmos, syndactyly, laryngeal atresia, abnormal genitalia and renal agenesis. We have found 72 cases of the syndrome and 40 of isolated cryptophthalmos among 112 cases reported in the literature since Zehender's first description in 1872. The isolated cases, which have not been previously analyzed, contain three families showing vertical transmission, while the syndromic ones suggest autosomal recessive inheritance. We report three stillborn siblings pairs who presented with cryptophthalmos, bilateral renal agenesis, oligo-hydramnios sequence, genital abnormalities and syndactyly. Four had laryngeal stenosis or atresia and two siblings had aplasia or hypoplasia of the thymus. Review of the literature and our own experience illustrate the high frequency of renal agenesis in Cryptophthalmos syndrome and the existence of the disorder without cryptophthalmos. Abnormalties similar to those found in this syndrome, some of which may involve defects in programmed cell death, have been observed in two vitamin A deprived animal models. The Cryptophthalmos syndrome should be considered more frequently in the differential diagnosis of multiple congenital malformations, especially when associated with renal agenesis and even in the absence of cryptophthalmos.

CUTIS LAXA, HYPOSPADIAS AND OLIGOHYDRAMNIOS SEQUENCE IN A NEWBORN: A DISCRETE SYNDROME

This boy's birth weight was 2960 gm. Sonogram done at 14 weeks gestation was normal; at 30 weeks sonogram showed no amniotic fluid. Cesarian section at 35½ weeks revealed a deformed infant with loose folds of skin hung around his head in an elephant man appearance. A cape-like fold drooped from the nape of his neck, and redundant skin hung from his trunk and extremities. Hands and feet were puffy like little balloons. On the right was a Potter ear, and the palate was high-arched. The shoulders, radial heads and hips were dislocated. The digits appeared to dislocate in various directions. There was a left club foot. The phallus had a swollen foreskin, with 3rd degree hypospadias. Scrotum was hypoplastic with palpable right gonad. Karyotype was 46,XY. Renal, abdominal and head sonography were normal, as were echocardiography and EKG. The case closely resembles that of Kaye et al. (AJDC.127:115,1974). Experimental oligohydramnios in animals results in multiple articular deformities (including club feet), high-arched or cleft palate and primitive digits (DeMyer and Baird, Teratology 2:33 1969). Our patient shows many of the deformities seen in human oligohydramnios sequence. We propose that this clinical picture may be explained by a genetic defect (?single gene disorder) mediating the genital anomaly, cutis laxa and oligohydramnios, and that the various deformations follow in the train of the oligohydramnios.