Nonimmune idiopathic hydrops fetalis and congenital lymphatic dysplasia (original) (raw)
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Non-immune Hydrops Fetalis: Retrospective Evaluation of Pathophysiological Mechanisms
Gazi Medical Journal, 2017
Objective: Nonimmune hydrops fetalis (NIHF) is associated with abnormal fluid collections in fetal soft tissues and serous cavities due to nonimmunologic causes. It should be considered as a symptom, rather than a disorder. We aimed to investigate etiology and pathophysiology in cases with NIHF during a four-year time period. Methods: Eleven live-born infants with NIHF were evaluated retrospectively. Demographic data, laboratory values, and results of specified tests were recorded. Etiology and pathophysiological mechanisms were established. Results: The mean gestational age at birth was 32.8±2.6 weeks and the mean birth weight was 2545±809 grams. All cases presented with edema and ascites. Chromosomal disorders (5/11) were the leading etiology. Pathophysiological mechanisms were observed as fetal hypotonia, fetal hypoxia, lymphatic disorders, hypoalbuminemia, early closure of ductus arteriosus, anemia, and right-sided heart failure. Mortality was 72%. Conclusion: In the presented study NIHF occurred as a symptom which was presented in various conditions based on different mechanisms. Evaluations made in infants with NIHF should aim both diagnosis of the condition as well as finding out the underlying pathophysiological mechanisms. Mortality rate in infants with NIHF is high even though the improvements in neonatal care.
Etiology of non‐immune hydrops fetalis: An update
American Journal of Medical Genetics Part A, 2015
Hydrops fetalis is an excessive fluid accumulation within the fetal extra vascular compartments and body cavities. Non‐immune hydrops fetalis (NIHF), due to causes other than Rh alloimmunization, is the cause in >85% of all affected individuals. Herein we present an update of our earlier systematic literature review [Bellini et al., 2009] using all publications between 2007 and 2013. We excluded most of the initial 31,783 papers by using strict selection criteria, thus resulting in 24 relevant NIHF publications describing 1,338 individuals with NIHF. We subdivided the affected individuals into 14 classification groups based on the cause of NIHF (percentage of the total group): Cardiovascular (20.1%), Hematologic (9.3%), Chromosomal (9.0%), Syndromic (5.5%), Lymphatic Dysplasia (15.0%), Inborn Errors of Metabolism (1.3%), Infections (7.0%), Thoracic (2.3%), Urinary Tract Malformations (0.9%), Extra Thoracic Tumors (0.7%), TTTF‐Placental (4.1%), Gastrointestinal (1.3%), Miscellaneo...
Investigation of nonimmune hydrops fetalis
American Journal of Obstetrics and Gynecology, 1984
Fifty pregnancies complicated by fetal ascites and generalized edema are reviewed and their prenatal findings, obstetric management, and fetal outcome are discussed. From the myriad of maternal, fetal, and placental problems which are known to cause nonimmune hydrops fetalis, many different causes of the disorder could be identified in 84% of all patients studied by extensive prenatal and postnatal workup. Therefore, in only 16% of the cases was the nonimmune hydrops fetalis labeled "idiopathic." The most common demonstrable causes of the disorder in this series were cardiac anomalies, followed by chromosomal disorders, congenital malformations, a-thalassemia, and the twin-twin transfusion syndrome. A systematic approach to the prenatal diagnostic workup of nonimmune hydrops fetalis is outlined, starting with the least invasive techniques (ultrasound, echocardiography, complete blood count, Kleihauer-Betke analysis, TORCH testing, and so forth) followed by more invasive techniques (amniocentesis and fetoscopy). Although the detection and prognostic evaluation of nonimmune hydrops fetalis are greatly improved by applying these techniques, the overall prognosis for most fetuses with nonimmune hydrops fetalis is still very poor, and only a few conditions causing the disorder, such as prenatally detected cardiac arrhythmias or selected cases of urinary tract obstruction, are amenable to treatment in utero.
Non-immune Fetal Hydrops: An Update
2017
Hydrops fetalis is a Greek term which refers to the pathological accumulation of uid in fetal soft tissues and serous cavities. Non-immune fetal hydrops (NIFH) is de ned as uid accumulation in at least 2 fetal body compartments in the absence of red cell isoimmunisation (Moise, 2008). Abnormal uid collection may be ascites, pleural effusion, pericardial effusion or generalised skin edema (skin thickness >5mm) (Figure 1). Other frequent sonographic ndings associated with fetal hydrops include placental thickening and polyhydramnios. The placental thickness (in mm) is normally equal to the gestational age (in weeks) +/10 mm; if the placental thickness exceeds this range, it is considered as increased placental thickening (Moise, 2008). With the widespread use of routine antiD prophylaxis in Rh-negative mothers, prevalence of RhD alloimmunisation and associated hydrops has dramatically decreased and especially in developed countries, NIFH now accounts for almost 90% of cases of hydr...
Journal of Pediatric and Neonatal Individualized Medicine, 2014
Non-immune hydrops fetalis (NIHF) refers to hydrops in the absence of maternal circulating red-cell antibodies, and constitutes up to 90% of all described hydrops fetalis cases. One-third of hydropic fetuses are discovered incidentally during prenatal sonography in the first or second trimester of gestation. Although hydrops is a fetal condition, in many cases there are associated maternal findings, such as preeclampsia, polyhydramnios, and mirror syndrome (generalized maternal edema, that 'mirrors' the edema of the hydropic fetus and placenta). NIHF should be seen as a symptom or clinical phenotype rather than as a disorder, and considered as a non-specific, end-stage status of a wide variety of disorders. Numerous disorders including fetal disorders, maternal diseases (e.g., severe maternal anemia, diabetes and maternal indomethacin use) and placental/cord abnormalities have been associated with NIHF. Despite extensive investigations, the etiology on NIHF may remain unknown in 15% to 25% of patients, even after an autopsy has been performed. Chromosomal abnormalities are the cause of NIHF in 25-70% of the cases. Therefore, fetal or neonatal chromosome analysis is indicated in all cases of NIHF. Abnormalities of the cardiovascular system are responsible for as many as 40% of cases of NIHF. Thoracic abnormalities increase intrathoracic pressure and can obstruct venous return to the heart, leading to peripheral venous congestion, or they may obstruct the lymphatic duct, resulting in lymphedema. Fetal anemia accounts for 10-27% of hydrops. To evaluate the risk of fetal anemia, Doppler measurement of the middle cerebral artery peak systolic velocity should be performed in all hydropic fetuses after 16 weeks of gestation. Parvovirus B19 is the most common infectious agent associated with hydrops. Even in persistent severe anemia, the prognosis is generally good if the fetus is supported by intrauterine fetal transfusions. The development of hydrops in fetuses with a TORCH infection is a poor prognostic indicator. Although hypoproteinemia is frequently proposed as
Non-immune hydrops fetalis The last ten years, the next ten years in Neonatology
2014
Non-immune hydrops fetalis (NIHF) refers to hydrops in the absence of maternal circulating red-cell antibodies, and constitutes up to 90% of all described hydrops fetalis cases. One-third of hydropic fetuses are discovered incidentally during prenatal sonography in the first or second trimester of gestation. Although hydrops is a fetal condition, in many cases there are associated maternal findings, such as preeclampsia, polyhydramnios, and mirror syndrome (generalized maternal edema, that 'mirrors' the edema of the hydropic fetus and placenta). NIHF should be seen as a symptom or clinical phenotype rather than as a disorder, and considered as a non-specific, end-stage status of a wide variety of disorders. Numerous disorders including fetal disorders, maternal diseases (e.g., severe maternal anemia, diabetes and maternal indomethacin use) and placental/cord abnormalities have been associated with NIHF. Despite extensive investigations, the etiology on NIHF may remain unknow...
Fetal hydropsia: challenges in etiologies
Research, Society and Development, 2021
Introduction: Fetal hydrops is defined as the presence of abnormal fluid collections in two or more extravascular fetal compartments and body cavities. There are about 150 different underlying causes known today potentially leading to this fetal alteration. Objective: To analyze the etiologies involved in the occurrence of cases of fetal hydrops. Methods: A systematic literature review was carried out using the MedLine, Pubmed and Scielo databases, from 2015 to 2021, using the expressions: "fetal, hydrop, etiologies." Discussion: Fetal hydrops is divided into immune and non-immune. Immune results from anemia secondary to erythroblastosis by alloimmunization, so when there is maternal exposure to fetal antigens, it generates an immune response that results in the production of antibodies. History of blood transfusions, previous births, trauma and a history of alloimmunization are characterized as risk factors. Thus, immunoprophylaxis with anti-D immunoglobulin is indicate...
Journal of Perinatology, 2021
Non-immune hydrops fetalis (NIHF) is a complex condition with a high mortality and morbidity rate. Here we report the etiology and outcome of 1004 fetuses with NIHF, in a large single Maternal and Children's hospital of Southern China, since the year of 2009 to 2016. Among these 1004 fetuses with NIHF, the etiology was identified prenatally in 722 of them (72%). The most common ones were hematologic diseases and chromosomal abnormalities. There were eight spontaneous abortions, 18 intrauterine fetal demise, 672 pregnancy terminations and 87 were lost to follow-up. 219 of the 1004 fetuses were live-born and the overall survival rate was 21.8% at this point. After birth 16 perinatal or early neonatal deaths were encountered and five lost to follow-up. Of the remaining 198 newborns, 153 thrived without apparent morbidity. The most significant factors associated with mortality were prematurity and low birthweight. In conclusion, we described the largest report of underlying causes and outcome of NIHF in Southern China. Etiologies were identified for 72% of 1004 fetuses with NIHF. And two poor prognostic factors for survival are preterm birth at less than 36.5 weeks and birthweight lower than 2575 g respectively. Hydrops fetalis (HF) refers to a condition in which an excess of fluid accumulates in fetal soft tissues and serous cavities 1-3. According to the clinical guideline from the Society for Maternal-Fetal Medicine 4 , HF is defined as the presence of at least two abnormal fluid collections in the fetus, including ascites, pericardial effusion, pleural effusions, and generalized skin edema (skin thickness >5 mm). Polyhydramnios and placental thickening are also frequent sonographic findings 5,6. Generally, HF could be classified into two categories: iso-immune HF (IHF) and non-immune HF (NIHF). IHF is caused by fetal hemolysis, an process that is mediated by circulating maternal antibodies to antigens of fetal red blood cells. The incidence of IHF has markedly declined due to the use of anti-D gamma globulin prophylaxis. At present, about 90% of cases of hydrops are NIHF 7 , with prevalence reported as 1 in 1700-3000 pregnancies 8-10. NIHF may occur at various gestational ages with different types of etiologies, including hematologic, cardiovascular, chromosomal, infections, syndromic, thoracic, inborn errors of metabolism, lymphatic dysplasia, urinary tract malformations, extra thoracic tumors, gastrointestinal, twin-to-twin transfusion syndrome (TTTS)-placental, miscellaneous, and idiopathic causes 1,11. Despite many improvements in diagnosis and