RESUMEN
Amniotic fluid (AF) is an integral part of the fetal environment and is essential for fetal growth and development. Pathways of AF recirculation include the fetal lungs, swallowing, absorption through the fetal gastrointestinal tract, excretion through fetal urine production, and movement. In addition to being a marker for fetal health, adequate AF is necessary for fetal lung development, growth, and movement. The role of diagnostic imaging is to provide a detailed fetal survey, placental evaluation, and clinical correlation with maternal conditions to help identify causes of AF abnormalities and thereby enable specific therapy. Oligohydramnios prompts evaluation for fetal growth restriction as well as genitourinary issues, including renal agenesis, multicystic dysplastic kidneys, ureteropelvic junction obstruction, and bladder outlet obstruction. Premature preterm rupture of membranes should also be clinically excluded as a cause of oligohydramnios. Clinical trials evaluating amnioinfusion are underway as a potential intervention for renal causes of oligohydramnios. Most cases of polyhydramnios are idiopathic, with maternal diabetes being a common cause. Polyhydramnios prompts evaluation for fetal gastrointestinal obstruction and oropharyngeal or thoracic masses, as well as neurologic or musculoskeletal anomalies. Amnioreduction is performed only for maternal indications such as symptomatic polyhydramnios causing maternal respiratory distress. Polyhydramnios with fetal growth restriction is paradoxical and can occur with maternal diabetes and hypertension. When these maternal conditions are absent, this raises concern for aneuploidy. The authors describe the pathways of AF production and circulation, US and MRI assessment of AF, disease-specific disruption of AF pathways, and an algorithmic approach to AF abnormalities. ©RSNA, 2023 Online supplemental material is available for this article. Quiz questions for this article are available through the Online Learning Center.
Asunto(s)
Diabetes Mellitus , Oligohidramnios , Polihidramnios , Recién Nacido , Femenino , Embarazo , Humanos , Líquido Amniótico/diagnóstico por imagen , Líquido Amniótico/metabolismo , Oligohidramnios/diagnóstico por imagen , Polihidramnios/diagnóstico , Polihidramnios/metabolismo , Retardo del Crecimiento Fetal , Placenta , Diabetes Mellitus/metabolismoRESUMEN
OBJECTIVE: Uterine overdistention is thought to induce preterm labor in women with twin and multiple pregnancies, but the pathophysiology remains unclear. We investigated for the first time the pathogenesis of preterm birth associated with rapid uterine distention in a pregnant nonhuman primate model. STUDY DESIGN: A nonhuman primate model of uterine overdistention was created using preterm chronically catheterized pregnant pigtail macaques (Macaca nemestrina) by inflation of intraamniotic balloons (N = 6), which were compared to saline controls (N = 5). Cesarean delivery was performed due to preterm labor or at experimental end. Microarray, quantitative reverse transcriptase polymerase chain reaction, Luminex (Austin, TX), and enzyme-linked immunosorbent assay were used to measure messenger RNA (mRNA) and/or protein levels from monkey (amniotic fluid, myometrium, maternal plasma) and human (amniocytes, amnion, myometrium) tissues. Statistical analysis employed analysis of covariance and Wilcoxon rank sum. Biomechanical forces were calculated using the law of Laplace. RESULTS: Preterm labor occurred in 3 of 6 animals after balloon inflation and correlated with greater balloon volume and uterine wall stress. Significant elevations of inflammatory cytokines and prostaglandins occurred following uterine overdistention in an "inflammatory pulse" that correlated with preterm labor (interleukin [IL]-1ß, tumor necrosis factor [TNF]-α, IL-6, IL-8, CCL2, prostaglandin E2, prostaglandin F2α, all P < .05). A similar inflammatory response was observed in amniocytes in vitro following mechanical stretch (IL1ß, IL6, and IL8 mRNA multiple time points, P < .05), in amnion of women with polyhydramnios (IL6 and TNF mRNA, P < .05) and in amnion (TNF-α) and myometrium of women with twins in early labor (IL6, IL8, CCL2, all P < .05). Genes differentially expressed in the nonhuman primate after balloon inflation and in women with polyhydramnios and twins are involved in tissue remodeling and muscle growth. CONCLUSION: Uterine overdistention by inflation of an intraamniotic balloon is associated with an inflammatory pulse that precedes and correlates with preterm labor. Our results indicate that inflammation is an early event after a mechanical stress on the uterus and leads to preterm labor when the stress is sufficiently great. Further, we find evidence of uterine tissue remodeling and muscle growth as a common, perhaps compensatory, response to uterine distension.
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Inflamación/metabolismo , Trabajo de Parto Prematuro/fisiopatología , Estrés Mecánico , Útero/fisiopatología , Amnios/metabolismo , Animales , Citocinas/genética , Citocinas/metabolismo , Dinoprost/genética , Dinoprost/metabolismo , Dinoprostona/genética , Dinoprostona/metabolismo , Femenino , Humanos , Macaca nemestrina , Modelos Animales , Miometrio/metabolismo , Polihidramnios/metabolismo , Embarazo , Embarazo Múltiple/fisiología , ARN Mensajero/metabolismoRESUMEN
OBJECTIVE: To report amniotic fluid biochemistry in a large series of 464 cases of isolated polyhydramnios in order to analyze both the outcome and the benefit of amniotic fluid biochemistry. METHODS: This retrospective cohort (2008-2012) included polyhydramnios cases for which amniotic fluid samples were sent to our laboratory for biochemical analysis (total protein, alpha-fetoprotein and gamma-glutamyl transpeptidase) so as to investigate the etiology. A Bartter index and an esophageal atresia index were defined. Final diagnoses were compared between groups to determine the association between these indices and the frequency and type of adverse outcomes. RESULTS: Among 464 cases of polyhydramnios considered isolated at ultrasound examination, severe fetal diseases were diagnosed in 136 (29.3%): 46 (9.9%) chromosomal anomalies, 28 (6%) Bartter syndrome, 23 (4.95%) other genetic syndromes, 22 (4.75%) swallowing disorders and 17 (3.7%) uro-nephrological disorders. Amniotic fluid biochemistry identified esophageal atresia with 66.6% (10/15) sensitivity and 100% specificity and Bartter syndrome with 85.7% (24/28) sensitivity and 84.2% specificity. CONCLUSION: Isolated polyhydramnios is associated with a high risk of severe fetal diseases. Molecular cytogenetics and amniotic fluid biochemistry are helpful tools.
Asunto(s)
Líquido Amniótico/metabolismo , Trastornos de los Cromosomas/complicaciones , Polihidramnios/metabolismo , Líquido Amniótico/química , Femenino , Humanos , Polihidramnios/genética , EmbarazoRESUMEN
OBJECTIVE: To evaluate the association between orexin-A level and idiopathic polyhydramnios. DESIGN: Case-control study. SETTING: Tertiary-level university hospital. POPULATION: Ten term pregnant women with idiopathic polyhydramnios and, as the control group, 20 pregnant women with normal amniotic fluid levels. METHODS: Amniotic fluid level was measured at admission for delivery using enzyme-linked immunosorbent assay. Maternal blood was obtained from a cannulated vein immediately before delivery, and umbilical blood was collected at the time of delivery, before the separation of the placenta. MAIN OUTCOME MEASURES: Maternal and umbilical levels of orexin-A. RESULTS: Mean umbilical serum orexin-A level was significantly lower than maternal serum orexin-A level. Umbilical serum orexin-A level was positively correlated with maternal serum orexin-A level, but negatively correlated with amniotic fluid index and birthweight. Umbilical serum orexin-A level was lower in the idiopathic polyhydramnios group than in the control group. However, no difference in maternal serum orexin-A level was observed between the two groups. CONCLUSIONS: Idiopathic polyhydramnios was associated with decreased umbilical serum orexin-A levels. Our results provide evidence that orexin-A expression may be involved in amniotic fluid regulation, causing polyhydramnios by downregulation.
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Líquido Amniótico/metabolismo , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Neuropéptidos/metabolismo , Polihidramnios/metabolismo , Cordón Umbilical/metabolismo , Estudios de Casos y Controles , Femenino , Humanos , Orexinas , Embarazo , Resultado del Embarazo , Atención Prenatal/métodos , Valores de Referencia , República de Corea , Nacimiento a Término/metabolismoRESUMEN
BACKGROUND: Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement. RESULTS: Clinical data, MRI results and histopathological data were collected retrospectively in two unrelated boys (9 and 3.5 years old). Exome sequencing uncovered the same 3-bp in-frame deletion in exon 15 (c.1498_1500delGAG) of the MYH7 gene of both patients, a mutation which deletes a highly conserved glutamate residue (p.Glu500del) in the relay loop of the head domain of the ß-cardiac myosin heavy chain. The mutation occurred de novo in one patient, whereas mosaicism was detected in blood of the father of the second patient. Both boys presented with an unusual phenotype of prenatal polyhydramnios, congenital axial stiffness and muscular hypertonus. In one patient the phenotype evolved into an axial/proximal skeletal myopathy without distal involvement or cardiomyopathy, whereas the other patient exhibited predominantly stiffness and respiratory involvement. We review and compare all patients described in the literature who possess a variant predicted to alter the p.Glu500 residue in the ß-cardiac myosin head domain, and we provide in-silico analyses of potential effects on polypeptide function. CONCLUSION: The data presented here expand the phenotypic spectrum of mutations in the MYH7 gene and have implications for future diagnostics and therapeutic approaches.
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Enfermedades Musculares , Polihidramnios , Aminoácidos/metabolismo , Miosinas Cardíacas/genética , Miosinas Cardíacas/metabolismo , Femenino , Humanos , Músculo Esquelético/metabolismo , Enfermedades Musculares/genética , Mutación , Cadenas Pesadas de Miosina/genética , Cadenas Pesadas de Miosina/metabolismo , Polihidramnios/metabolismo , Polihidramnios/patología , Estudios RetrospectivosRESUMEN
Prenatal diagnosis of esophageal atresia (EA) may improve the outcome of affected neonates by allowing optimization of both prenatal and postnatal care. Prenatal sonographic detection is based on polyhydramnios and/or nonvisualization of the fetal stomach bubble, two signs with a large number of etiologies. We evaluated a biochemical approach to improving diagnostic efficiency. We compared amniotic fluid biochemical markers in 44 EA cases with 88 polyhydramnios and 88 nonpolyhydramnios controls. Both matched for GA with cases. Total proteins, alpha-fetoprotein (AFP), and digestive enzyme activities were assayed, including gamma-glutamyl transpeptidase (GGTP). We defined an EA index (AFP multiplied by GGTP). A significant difference (p < 0.0001) was observed for total protein, AFP, GGTP, and EA index between the EA group and each of the two control groups. No statistical difference was observed for any marker between the two most frequent EA subgroups (type I and type III) or between the two control groups. Using a cutoff of 3 for the EA index, 98% sensitivity and 100% specificity were observed for amniotic fluid prenatal diagnosis of EA, whatever the anatomical type. A large prospective series is required to confirm these results.
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Líquido Amniótico/metabolismo , Biomarcadores/metabolismo , Atresia Esofágica/diagnóstico , Diagnóstico Prenatal/métodos , Femenino , Humanos , Polihidramnios/metabolismo , Embarazo , Sensibilidad y Especificidad , Estadísticas no Paramétricas , alfa-Fetoproteínas/metabolismo , gamma-Glutamiltransferasa/metabolismoRESUMEN
Polyhydramnios is a common feature diagnosed by ultrasound in the second half of pregnancy. Biochemical analysis of amniotic fluid can be useful when suspecting Bartter syndrome or digestive atresia but in most of cases, no etiology of polyhydramnios is found because of the complex regulation of amniotic fluid. Aquaporins (AQP) are transmembrane channel proteins contributing to water transfers. Some of them are expressed in fetal membranes and placenta. Their expression has been shown to be disrupted in some pathological conditions such as maternal diabetes, often associated with polyhydramnios. AQP-1, 3 and 8 levels in amniotic fluid were retrospectively measured in patients suffering from polyhydramnios (n=21) from 23 weeks of gestation (WG). They were compared to the levels observed in control subjects (n=96) and their relationship with maternal factors and neonatal issues was analyzed. AQP-1, 3, 8 levels were physiologically fluctuating, AQP-1 levels always being the lowest and AQP-3 the highest, with a significant decrease at the end of pregnancy. AQPs/AFP ratios increased about 8 folds during pregnancy, their kinetic profiles reflecting physiological dynamic evolution of amniotic fluid volume. In polyhydramnios, AQP-3 level tended to be decreased whereas AQP-8 level was decreased from mid-gestation whatever the etiology of polyhydramnios. No significant relationship was found between AQPs levels and either the fetal prematurity degree or macrosomia. No specific pattern was observed in idiopathic polyhydramnios, limiting the interest of AQPs dosage in amniotic fluid in the management of those complicated pregnancies.
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Amnios/metabolismo , Amnios/patología , Líquido Amniótico/metabolismo , Acuaporinas/biosíntesis , Polihidramnios/metabolismo , Polihidramnios/patología , Adulto , Líquido Amniótico/química , Acuaporinas/análisis , Acuaporinas/genética , Femenino , Humanos , Persona de Mediana Edad , Polihidramnios/genética , Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
INTRODUCTION: Idiopathic polyhydramnios (IPH) is an abnormal increase in amniotic fluid volume (AFV). This condition has unknown etiologies and is associated with various adverse pregnancy outcomes including maternal and fetal complication. This study aims to establish a comparative proteome profile for the human amniotic fluid (AF) of IPH and normal pregnancies and identify the responsible mediators and pathways that regulate AFV. METHODS: We first employed coupled isobaric tags for relative and absolute quantitation (iTRAQ) proteomics and bioinformatics analysis to examine the differentially expression proteins (DEPs) in the AF of IPH and normal pregnancies. Second, CUL5, HIP1, FSTL3, and LAMP2 proteins were selected for verification in amnion, chorion, and placental tissues by Western blot analysis. RESULTS: We identified 357 DEPs with 282 upregulated and 75 downregulated. Bioinformatics analysis revealed that cell, cellular process, and binding were the most enriched Gene Ontology terms. Amoebiasis, hematopoietic cell lineage, and NF-kappa B signaling pathway were the top significant pathways. In the verification procedure, FSTL3 protein had a highly significant expression in the amnion, chorion, and placentas of IPH and normal AFV groups (pâ¯<â¯0.05). DISCUSSION: Our results provide new insights into idiopathic polyhydramnios and offer fundamental points for future studies on AFV.
Asunto(s)
Líquido Amniótico/metabolismo , Placenta/metabolismo , Polihidramnios/metabolismo , Proteoma , Adulto , Amnios/metabolismo , Corion/metabolismo , Biología Computacional , Femenino , Humanos , Embarazo , ProteómicaRESUMEN
OBJECTIVE: To investigate the pathogenesis role of aquaporin 3 and aquaporin 9 in idiopathic polyhydramnios by detecting their expression and distribution in fetal membranes and placenta. METHODS: Twenty-one of term pregnancy women with idiopathic polyhydramnios were enrolled as patient group matched with 30 women with normal term pregnancy as control group. The expression and localization of aquaporin 3 and aquaporin 9 in fetal membranes and placenta were detected by real-time polymerase chain reaction and streptavidin peroxidase immunohistochemiscal staining. RESULTS: (1) The mRNA expressions of aquaporin 3 and aquaporin 9 were detected in amnion, chorion and placental tissue in both patient group and control group. Both aquaporin 3 and aquaporin 9 were demonstrated positive staining in the amnion epithelia, chorion cytotrophoblasts and placental trophoblast. (2) The ratio of aquaporin 3 and aquaporin 9 mRNA expressions in amnion in patient group comparing to those in control group were 5.00 and 3.25, while in chorion they were 2.03 and 2.08. When compared with those in amnion and chorion of control group, there was a significant difference (P < 0.01). However, the relative change fold of aquaporin 3 and aquaporin 9 in placental trophoblast in patient group were decreased in comparison of those in control group, which also showed statistical difference (P < 0.01). (3) The expression of aquaporin 3 and aquaporin 9 protein in amnion were 7.5 +/- 2.0 and 11.1 +/- 1.8 in patient group, while they were 5.3 +/- 1.6 and 5.6 +/- 2.3 in control group. In chorion, the expression of aquaporin 3 and aquaporin 9 protein was 7.5 +/- 2.0 and 10.0 +/- 1.6 in patient group, respectively, while in control group, they were 5.4 +/- 2.2 and 5.6 +/- 2.1. When compared with those proteins in control group, it exhibited statistical difference (P < 0.05). However, in placental trophoblast of patient group, the expression of aquaporin 3 and aquaporin 9 protein were 3.5 +/- 1.4 and 4.0 +/- 2.5, respectively, which were significantly decreased than 5.6 +/- 1.3 and 7.1 +/- 2.9 in control group (P < 0.05). CONCLUSIONS: The alterations of aquaporin 3 and aquaporin 9 expressions in fetal membrane and placenta might be an adaptive response to idiopathic polyhydramnios. Further investigation should be needed to clarify the regulatory mechanism of aquaporin 3 and aquaporin 9 expressions.
Asunto(s)
Acuaporina 3 , Polihidramnios , Amnios/metabolismo , Acuaporina 1/metabolismo , Acuaporina 3/metabolismo , Membranas Extraembrionarias/metabolismo , Femenino , Humanos , Placenta/metabolismo , Polihidramnios/metabolismo , Embarazo , ARN Mensajero/metabolismoRESUMEN
OBJECTIVE: To determine the expression of Aquaporin 8(AQP8) in the fetal membrane and placenta of idiopathic polyhydramnios. METHODS: The amnion, chorion and placenta were collected from 12 term pregnancies with idiopathic polyhydramnios( polyhydramnios group) and 12 term pregnancies who were normal (control group). The expression of AQP8 mRNA was detected by reverse transcription-polymerase chain reaction (RT-PCR). The expression of AQP8 protein was detected by immunohistochemistry. RESULTS: The expression of AQP8 mRNA in amnion, chorion and placenta of polyhydramnios group was (0.78 +/- 0.13), (0.58 +/- 0.10), and (0.86 +/- 0.15) respectively, and that of control group was (0. 39 0.07), (0.45 +/- 0.09), and (0.34 +/- 0.09) respectively. The expression of AQP8 protein in amnion, chorion and placenta of polyhydramnios group was (0.195 +/- 0.024), (0.170 +/- 0.028), and (0.193 +/- 0.024) respectively, and that of control group was (0.151 +/- 0.018), (0.156 +/- 0.024), and (0.152 +/- 0.023) respectively. In all 3 types of tissues the expression of AQP8 mRNA of polyhydramnios group was higher than that of control group (P < 0.05). In amnion and placenta the expression of AQP8 protein of polyhydramnios group was also increased compared to that of control group (P < 0.05), but in chorion the difference in AQP8 protein expression between the two groups was not significant (P > 0.05). CONCLUSION: The expression of AQP8 mRNA and protein is significantly increased in the amnion and placenta of polyhydramnios, suggesting that AQP8 may play an important role in the regulation of amniotic fluid volume.
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Acuaporinas/metabolismo , Membranas Extraembrionarias/metabolismo , Placenta/metabolismo , Polihidramnios/metabolismo , Líquido Amniótico/metabolismo , Acuaporinas/genética , Estudios de Casos y Controles , Corion/metabolismo , Femenino , Expresión Génica , Humanos , Inmunohistoquímica , Embarazo , ARN Mensajero/genética , ARN Mensajero/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
OBJECTIVE: Polyhydramnios is a condition associated with significant perinatal morbidity. While the exact pathophysiology of this condition is unknown in the absence of obvious anatomic or organic etiologies, impaired intramembranous water transport has been shown. Previous studies from our laboratory have shown that the water channel aquaporin 1 (AQP1) is expressed in human fetal membranes from term pregnancies with normal amniotic fluid (AF) volume. Therefore, we hypothesized that in pregnancies with idiopathic polyhydramnios, AQP1 expression might be reduced in fetal membranes from pregnancies with this AF volume disorder. STUDY DESIGN: Placentas were collected from women at term (37-40 weeks) who presented with either polyhydramnios (amniotic fluid index [AFI] >24.0 cm) or normal AF volume (AFI 5.0-23.9 cm). Immediately after delivery, the membranes (amnion and chorion) directly overlying the placenta and the free-floating reflected membranes were sampled (total of 4 samples from each placenta). RNA was isolated from each sample and expression was quantified using real-time reverse transcriptase polymerase chain reaction (PCR) and relative quantification of gene expression. RESULTS: Relative to pregnancies with normal AF volume, there was an increase in expression of the water channel AQP1 in all regions of the fetal membranes. The greatest increase (33-fold) was seen in the reflected amnion. CONCLUSION: AQP1 expression is increased in polyhydramnios. This finding suggests that alterations in AQP1 expression may be a compensatory response to and not a cause of idiopathic polyhydramnios. We speculate that therapies focused on regulating AQP1 expression may be useful for treating this condition.
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Acuaporina 1/genética , Polihidramnios/genética , ARN Mensajero/biosíntesis , Membranas Extraembrionarias/química , Femenino , Humanos , Placenta/química , Polihidramnios/metabolismo , Embarazo , ARN Mensajero/análisisRESUMEN
Aquaporins (AQPs) are transmembrane channel proteins that facilitate rapid water movement across cell membranes. In amniotic membrane, the AQP-facilitated transfer of water across amnion cells has been proposed as a mechanism for amniotic fluid volume (AFV) regulation. To investigate whether AQPs modulate AFV by altering intramembranous absorption (IMA) rate, we tested the hypothesis that AQP gene expression in the amnion is positively correlated with IMA rate during experimental conditions when IMA rate and AFV are modified over a wide range. The relative abundances of AQP1, AQP3, AQP8, AQP9, and AQP11 mRNA and protein were determined in the amnion of 16 late-gestation ovine fetuses subjected to 2 days of control conditions, urine drainage, urine replacement, or intraamniotic fluid infusion. AQP mRNA levels were determined by RT-qPCR and proteins by western immunoblot. Under control conditions, mRNA levels among the five AQPs differed more than 20-fold. During experimental treatments, mean IMA rate in the experimental groups ranged from 100 ± 120 mL/day to 1370 ± 270 mL/day. The mRNA levels of the five AQPs did not change from control and were not correlated with IMA rates. The protein levels of AQP1 were positively correlated with IMA rates (r(2) = 38%, P = 0.01) while the remaining four AQPs were not. These findings demonstrate that five AQPs are differentially expressed in ovine amnion. Our study supports the hypothesis that AQP1 may play a positive role in regulating the rate of fluid transfer across the amnion, thereby participating in the dynamic regulation of AFV.
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Absorción Fisiológica , Amnios/metabolismo , Líquido Amniótico/metabolismo , Acuaporinas/metabolismo , Polihidramnios/metabolismo , Agua/metabolismo , Amnios/fisiopatología , Animales , Acuaporinas/genética , Modelos Animales de Enfermedad , Femenino , Regulación de la Expresión Génica , Edad Gestacional , Cinética , Polihidramnios/genética , Polihidramnios/fisiopatología , Embarazo , ARN Mensajero/genética , ARN Mensajero/metabolismo , OvinosRESUMEN
Amniotic fluid volume during mid-to-late gestation depends mainly on the urine excretion from the foetal kidneys and partly on the fluid secretion from the foetal lungs during foetal breathing-like movements. Urine is necessary for foetal breathing-like movements, which is critical for foetal lung development. Bilateral renal agenesis and/or obstruction of the urinary tract lead to oligohydramnios, which causes infant death within a short period after birth due to pulmonary hypoplasia. Lrp4, which functions as an agrin receptor, is essential for the formation of neuromuscular junctions. Herein, we report novel phenotypes of Lrp4 knockout (Lrp4(-/-)) mice. Most Lrp4(-/-) foetuses showed unilateral or bilateral kidney agenesis, and Lrp4 knockout resulted in polyhydramnios. The loss of Lrp4 compromised foetal swallowing and breathing-like movements and downregulated the expression of aquaporin-9 in the foetal membrane and aquaporin-1 in the placenta, which possibly affected the amniotic fluid clearance. These results suggest that amniotic fluid removal was compromised in Lrp4(-/-) foetuses, resulting in polyhydramnios despite the impairment of urine production. Our findings indicate that amniotic fluid removal plays an essential role in regulating the amniotic fluid volume.
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Líquido Amniótico/metabolismo , Riñón/metabolismo , Polihidramnios/etiología , Receptores de LDL/genética , Amnios/metabolismo , Líquido Amniótico/química , Animales , Acuaporina 1/genética , Acuaporina 1/metabolismo , Acuaporinas/genética , Acuaporinas/metabolismo , Electrólitos/química , Femenino , Riñón/patología , Proteínas Relacionadas con Receptor de LDL , Pulmón/metabolismo , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Miometrio/metabolismo , Miometrio/patología , Concentración Osmolar , Placenta/metabolismo , Polihidramnios/metabolismo , Embarazo , Proteína A Asociada a Surfactante Pulmonar/metabolismo , Receptores de LDL/deficienciaRESUMEN
Binding of human GH (hGH) to the lactogenic receptor of human chorion laeve has been compared in membrane preparations from normal pregnancies and those complicated by chronic idiopathic polyhydramnios. Specific binding of [125I]hGH was significantly lower (mean +/- SE, 1.64 +/- 0.28%; n = 5) in chronic idiopathic polyhydramnios than in normal pregnancies (2.93 +/- 0.4%; n = 16). Scatchard analysis data were consistent with a reduced lactogenic hormone receptor concentration being the explanation for this reduced hGH binding. By contrast, the specific binding of [125I]insulin to its receptor was unchanged when chorion laeve from hydramniotic pregnancies (7.29 +/- 1.98%; n = 4) was compared with that from normal pregnancies (8.63 +/- 1.35%; n = 7). We conclude that a lactogenic hormone receptor defect exists in the chorion laeve of pregnancies complicated by chronic idiopathic polyhydramnios. Such impaired binding for PRL may explain the development of excessive amniotic fluid volumes, which is characteristic of this complication of pregnancy.
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Corion/metabolismo , Polihidramnios/metabolismo , Receptores de Superficie Celular/metabolismo , Receptores de Péptidos , Femenino , Hormona del Crecimiento/metabolismo , Humanos , Embarazo , Prolactina/metabolismo , Unión ProteicaRESUMEN
A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is described. Both patients initially presented with polyhydramnios and enlarged cerebral ventricles in utero, with subsequent cerebral atrophy, severe developmental delay, infantile spasms, and hypsarythmia on electroencephalogram. Fumarase activity in blood mononuclear cells and in the mitochondrial and cytosolic fractions of cultured skin fibroblasts was less than 0.5% of the control mean or undetectable. The older boy died at the age of 5 years and 4 months and the younger one is now 2 years and 10 months. The unrelated parents are symptomless and the other three children in the family are clinically healthy. Fumarase activities in the blood mononuclear cells of the father, mother, sister, and two brothers were 59%, 52%, 52%, 120%, and 44% of the control mean, respectively. The results strongly support autosomal recessive inheritance of fumarase deficiency and suggest its consideration in children with congenital hydrocephalus, progressive brain atrophy, and infantile spasms.
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Fumarato Hidratasa/deficiencia , Hidrocefalia/diagnóstico , Polihidramnios/diagnóstico , Células Cultivadas/enzimología , Ventriculografía Cerebral , Preescolar , Electroencefalografía , Fibroblastos/enzimología , Fumaratos/orina , Humanos , Hidrocefalia/genética , Hidrocefalia/metabolismo , Masculino , Polihidramnios/metabolismo , Piel/enzimología , Tomografía Computarizada por Rayos XRESUMEN
Amniotic fluid concentrations of immunoreactive prolactin were measured during the third trimester in 184 diabetic gravidas and correlated with concurrent levels of prolactin in maternal plasma. Prolactin measurements concorded with previously published estimates in normal gravid women and averaged 825 +/- 32 ng/mL (mean +/- SEM) in amniotic fluid and 168 +/- 6.5 ng/mL in simultaneously sampled plasma. Cross-sectional and longitudinal analyses indicated that the prolactin levels in amniotic fluid of pregnant diabetics declined significantly between weeks 32 and 40 of gestation, whereas plasma levels did not change consistently during the same interval. Mean values for amniotic fluid prolactin did not correlate with simultaneous prolactin concentrations in plasma, nor with maternal age, clinical estimates of polyhydramnios, amniotic fluid creatinine content, or lecithin/sphingomyelin (L/S) ratios or subsequent birth weight of the offspring. Clear-cut correlations with overall maternal glucose regulation could not be demonstrated. However, subtle effects may be operative since amniotic fluid prolactin displayed weak but significant correlations with concurrent levels of maternal plasma glucose, and mean values for hemoglobin A1c (HbA1c) but not with mean values for fasting plasma glucose (FPG). Amniotic fluid prolactin concentrations were significantly greater in patients with pregestational diabetes (White classes C, D, and F) than in women with gestational diabetes mellitus (GDM) (our classes A1, A2, and B1). The differences could not be accounted for by differences in metabolic regulation, maternal age, or weights of these two populations.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Líquido Amniótico/metabolismo , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 2/metabolismo , Embarazo en Diabéticas/metabolismo , Prolactina/metabolismo , Glucemia/metabolismo , Desarrollo Embrionario y Fetal , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Polihidramnios/metabolismo , Embarazo , Tercer Trimestre del Embarazo , Prolactina/sangre , Valores de ReferenciaRESUMEN
In the present studies, the content and the in vitro production of prolactin by decidua as well as the concentrations of prolactin in amniotic fluid, maternal and fetal serum in normal term pregnancies, induced abortions at various gestational ages, and in pregnancies complicated by diabetes mellitus, preeclampsia, chronic hypertension, and polyhydramnios were measured. Maternal and fetal prolactin levels varied considerably throughout gestation, but at term did not differ significantly between normal and abnormal pregnancies. Prolactin levels in amniotic fluid as well as decidual prolactin content and production were significantly lower only in pregnancies complicated by either hypertension or polyhydramnios. In both normal and abnormal pregnancies, decidual prolactin production correlated strongly with amniotic fluid concentrations. The present data suggest that 1) maternal and fetal prolactin levels do not differ significantly between normal and abnormal pregnancies, 2) the decidua is the principal source of amniotic fluid prolactin, and 3) the significantly lower levels of prolactin in amniotic fluid of pregnancies complicated by hypertension or polyhydramnios are probably due to adverse effects of these conditions on the synthesis and release of prolactin by decidua.
Asunto(s)
Líquido Amniótico/análisis , Decidua/metabolismo , Complicaciones del Embarazo/metabolismo , Prolactina/análisis , Femenino , Sangre Fetal/análisis , Humanos , Hipertensión/metabolismo , Polihidramnios/metabolismo , Preeclampsia/metabolismo , Embarazo , Embarazo en Diabéticas/metabolismo , Prolactina/sangreRESUMEN
Glucose values were determined in 102 urine samples of newborn infants and in 2295 amniotic fluid (AF) samples of women between the 14th and 42nd week of pregnancy. One thousand, six hundred fifty-five of the AF samples derived from normal pregnancies, 50 from pregnancies with fetal malformations, 115 from cases of hydramnios, 246 from pregnant women with an abnormal oral glucose tolerance test, and 230 from insulin-dependent diabetics. Mean AF glucose concentration rises slightly between the 14th and 17th week of pregnancy, decreasing from 46 to about 16 mg% at the end of pregnancy. In cases of fetal malformations, 68% of the glucose levels was below the tenth percentile of normal values. Hydramnios showed no deviation from normal values. In patients with abnormal glucose tolerance, AF glucose increased by a total of 42% and by 67% in fetal hyperinsulinism. Insulin-dependent diabetics had glucose values elevated by a total of 77% and by 106% in fetal hyperinsulinism. The AF glucose profile reflects the level of maternal blood glucose that is transported to the fetus and excreted in the fetal urine as a major source of glucose in AF.
Asunto(s)
Líquido Amniótico/metabolismo , Complicaciones del Embarazo/metabolismo , Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/orina , Femenino , Enfermedades Fetales/metabolismo , Enfermedades Fetales/orina , Glucosa/metabolismo , Glucosuria/orina , Humanos , Hiperinsulinismo/metabolismo , Hiperinsulinismo/orina , Polihidramnios/sangre , Polihidramnios/metabolismo , Polihidramnios/orina , Embarazo , Embarazo en Diabéticas/sangre , Embarazo en Diabéticas/metabolismo , Embarazo en Diabéticas/orinaRESUMEN
Fifteen consecutive cases of polyhydramnios (PH) out of a total number of 8806 deliveries performed between the 28th and the 41st week of pregnancy were investigated during the period from 1979 to 1985. Three cases of acute PH and 12 cases of chronic PH of which 10 were idiopathic were distinguished. From the time the clinical diagnosis was established until delivery, maternal serum and amniotic fluid alpha-fetoprotein (AFP) and prolactin (PRL), as well as maternal serum oestrogens (OT), placental lactogen (HPL), chorionic gonadotropin (hCG) and pregnancy-specific beta 1-glycoprotein (SP1), were studied. A very high increase of maternal serum AFP in all the cases of PH was observed (p less than 0.001) and was associated with the high degree of risk for obstetrical complications, while, on the other hand, amniotic fluid AFP was increased only in PH associated with congenital abnormalities of the fetus. Maternal serum PRL was not different from normal values (p greater than 0.2), while amniotic fluid PRL was lower in all the cases of chronic idiopathic polyhydramnios studied. The protein hormones and the oestrogens showed a discrepancy in their elevation, according to the kind of PH, the outcome of pregnancy, and the condition of the infant at birth.
Asunto(s)
Líquido Amniótico/metabolismo , Hormonas/metabolismo , Polihidramnios/metabolismo , alfa-Fetoproteínas/metabolismo , Estrógenos/metabolismo , Femenino , Humanos , Recién Nacido , Hormonas Placentarias/metabolismo , Embarazo , Resultado del Embarazo , Prolactina/metabolismoRESUMEN
OBJECTIVES: The pathophysiology of oligohydramnios-polyhydramnios in monochorionic (MC) twins complicated by chronic twin-twin transfusion syndrome (TTTS) is poorly understood. We hypothesise that oliguria and oligohydramnios in the donor twin of chronic TTTS, occurs due to antidiuretic and vasoconstrictive activity of vasopressin (AVP). METHODS: We measured AVP levels in maternal, fetal and amniotic fluid samples obtained in utero and at birth from 44 MC twins with (n=27) or without chronic TTTS (n=17). Concentrations of AVP in pg/ml were determined by immuno-radiometry assay. RESULTS: In donor fetuses, plasma and amniotic fluid AVP levels were higher than those of the recipient twins in utero (P<0.001) and at birth (P<0.001). No such differences were found between the non-TTTS twins. The plasma AVP concentrations were higher in the recipient fetuses with severe hydrops than those without hydrops (2.8+/-0.7 pg/ml versus 0.3+/-0.3 pg/ml; P<0.05). Maternal AVP levels were comparable between the TTTS and non-TTTS groups. In the non-TTTS twins, both plasma and amniotic fluid AVP levels were higher than those of the recipient twins (P<0.001) but lower than those of the donor twins (P<0.001). There was a significant association between amniotic fluid and plasma AVP levels both in the TTTS (r=0.78; P<0.001) and non-TTTS (r=0.70; P<0.01) infants. CONCLUSIONS: Vasopressin concentrations in the donor twins were three times higher than their co-twins which suggests that oligohydramnios may occur as a consequence of AVP mediated reduction in fetal urine output.