Hydrops fetalis, cardiovascular defects, and embryonic lethality in mice lacking the calcitonin receptor-like receptor gene.
(73/193)
Adrenomedullin (AM) is a multifunctional peptide vasodilator that is essential for life. To date, numerous in vitro studies have suggested that AM can mediate its biological effects through at least three different receptors. To determine the in vivo importance of the most likely candidate receptor, calcitonin receptor-like receptor, a gene-targeted knockout model of the gene was generated. Mice heterozygous for the targeted Calcrl allele appear normal, survive to adulthood, and reproduce. However, heterozygote matings fail to produce viable Calcrl-/- pups, demonstrating that Calcrl is essential for survival. Timed matings confirmed that Calcrl-/- embryos die between embryonic day 13.5 (E13.5) and E14.5 of gestation. The Calcrl-/- embryos exhibit extreme hydrops fetalis and cardiovascular defects, including thin vascular smooth muscle walls and small, disorganized hearts remarkably similar to the previously characterized AM-/- phenotype. In vivo assays of cellular proliferation and apoptosis in the hearts and vasculature of Calcrl-/- and AM-/- embryos support the concept that AM signaling is a crucial mediator of cardiovascular development. The Calcrl gene targeted mice provide the first in vivo genetic evidence that CLR functions as an AM receptor during embryonic development. (+info)
Fatal course of ABO hemolytic disease associated with hydrops in a twin pregnancy.
(74/193)
Hydrops fetalis associated with ABO incompatibility is an extremely rare condition. We report twin infants both afflicted with significant ABO hemolytic disease but showing different degrees of clinical severity, in which fatal hydrops developed in one of the twins. Hemolysis due to ABO incompatibility is usually difficult to diagnose. All causes of non-immune hydrops should be ruled out in order to identify hydrops due to ABO incompatibility. (+info)
Rapid and cost-effective antenatal diagnosis of haemoglobin Bart's hydrops foetalis syndrome using a duplex-polymerase chain reaction.
(75/193)
Haemoglobin Bart's hydrops foetalis syndrome (--SEA/--SEA) is not compatible with life and contributes to a majority of the hydropic foetuses in the Malaysian Chinese alpha-thalassaemia carriers who possess the 2-alpha-gene deletion in cis (--SEA/alphaalpha). A duplex-PCR which simultaneously amplifies a normal 136 bp sequence between the psialpha-alpha2-globin genes and a 730 bp Southeast Asian deletion-specific sequence (--SEA) between the psialpha2-theta1-globin genes was established. The duplex-PCR which detects the --SEA deletion in both chromosomes serves as a rapid and cost-effective confirmatory test in the antenatal diagnosis of Haemoglobin Bart's hydrops foetalis syndrome in Malaysia. In addition, the duplex-PCR is simple to perform as both the normal and deletion-specific alpha-globin gene sequences are amplified in the same PCR reaction. (+info)
Detection of alpha-thalassemia in beta-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening.
(76/193)
The aim of this study was to detect alpha-thalassemia in beta-thalassemia carriers during prenatal screening. During a 12-year prenatal screening program, a total of 158 couples (3.2%) were diagnosed to be the discordant alpha- and beta-thalassemia carriers. Of the 158 beta-thalassemia partners, seven (4.4%) were found to have co-inheritance of alpha0-thalassemia, and three (1.9%) found to have co-inheritance of alpha(+)-thalassemia. Three pregnancies affected with Hb Bart's hydrops fetalis were terminated in the 158 couples. The results showed that molecular analysis must be used for accurate diagnosis of double heterozygotes in couples presumed to be discordant for alpha- and beta-thalassemia on hematologic testing. (+info)
Long-term effects of a midgestational asphyxial episode in the ovine fetus.
(77/193)
We and others have shown previously that fetuses at midgestation can survive 30 min of complete umbilical cord occlusion, although hydrops fetalis (or gross fetal edema) results. To investigate whether this hydrops resolves by late gestation and if there are any long-term consequences of the asphyxial insult on the heart and kidneys, eight fetuses were subjected to 30 min of complete umbilical cord occlusion at 0.6 gestation (90 days; term 150 days) and were compared to a sham group (n = 10). During the occlusion period, fetuses became severely hypoxemic, hypercapnemic, and acidotic, with both blood pressure and heart rate decreasing. Most variables had returned to normal by 2-hr recovery. At 129 +/- 1 days of gestation, approximately 40 days post occlusion, some fetuses were still slightly hydropic as skin fold measurements were increased (P < 0.01), although fetal body weight was not different from the sham group. The two groups had similar heart and kidney weights, ventricular cardiac myocyte nucleation, and glomerular number. By contrast, brain weight was reduced by 37% (P < 0.001) and the cerebral lateral ventricles were grossly dilated. Lungs were 50% smaller than in sham fetuses (P < 0.001). Thus, the hydrops that develops at midgestation as a result of a severe asphyxial episode can, but does not always, fully resolve by late gestation. Also, while fetuses at midgestation can survive this asphyxial episode with no long-term impact in renal or cardiac size, nephron number, or cardiomyocyte nucleation, the brain and lungs are severely affected. (+info)
The emerging pattern of hydrops fetalis--incidence, aetiology and management.
(78/193)
OBJECTIVES: To analyse the incidence, aetiology and management of live born cases of hydrops fetalis in a Regional Perinatal Centre. METHODS: We reviewed 35 cases of hydrops delivered over a six year period. RESULTS: Non-immune hydrops accounted for 80% of the cases and the majority of babies required Level 1 intensive care. The mortality rate was 40%. CONCLUSION: The pattern of hydrops is changing. Most of these babies now have non-immune hydrops and approximately two thirds are surviving. (+info)
Atrial natriuretic factor in hydrops fetalis caused by Rh isoimmunisation.
(79/193)
Plasma concentrations of atrial natriuretic factor were determined by radioimmunoassay in 16 human fetuses of between 19 and 38 weeks' gestation. Fifteen fetuses had varying degrees of anaemia as a result of Rh isoimmunisation, and one fetus was normal. Eight fetuses had ultrasonographic evidence of severe hydrops fetalis and an additional three fetuses had mild hydrops. Severely hydropic fetuses were more anaemic and immature than those with mild or no hydrops. Among fetuses from which samples were taken before in utero transfusion, concentrations of atrial natriuretic factor were higher in those with severe hydrops than in the other groups. An inverse relationship between the haemoglobin concentration and that of atrial natriuretic factor was found. In four fetuses in which severe hydrops resolved after intravascular transfusions in utero, there were significant decreases in plasma atrial natriuretic factor concentrations; in the fifth fetus the decrease was less pronounced. Raised concentrations of atrial natriuretic factor in fetuses with severe anaemia and hydrops may be the result of atrial natriuretic factor release induced by hypoxia. (+info)
Congenital pulmonary lymphangiectasia.
(80/193)
Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease. (+info)