Nonimmune hydrops fetalis

Hydrops fetalis is a relatively rare phenomenon that presents itself in the delivery room in an extremely acute manner. Prompt resuscitation, an understanding of the condition and its presentation, and immediate treatment can make the difference between life and death in these cases. The focus of this article is on nonimmune hydrops, the type of hydrops seen in the clinical setting. Maternal and fetal pathophysiology, current theories, diagnostic evaluations, neonatal pathophysiology, clinical manifestations, treatment options, pertinent research, and the needs of the family are discussed.     

Nonimmune hydrops fetalis in Noonan's syndrome

Nonimmune hydrops fetalis has been reported to be associated with congenital malformations. We describe two newborns with Noonan's syndrome who presented with nonimmune hydrops fetalis that was most likely secondary to a generalized lymphatic vessel dysplasia. Other manifestations of lymphatic abnormalities in Noonan's syndrome, such as pedal edema and pulmonary and intestinal lymphangiectasis, have been observed in children. Nonimmune hydrops represents one end of the spectrum of abnormalities seen in this syndrome.     

Alpha-thalassaemic hydrops fetalis.

Concentrations of total protein, albumin, colloid osmotic pressure, and immunoglobulins G and M were measured in the umbilical venous plasma of 4 infants with alpha-thalassaemic hydrops fetalis. Total protein, albumin, and colloid osmotic pressure concentrations were low, and these are likely to contributory factors in the formation of fetal oedema. Immunoglobulin G levels were low suggesting a reduction in placental transfer probably due to placental oedema.     

Nonimmune hydrops fetalis and hepatitis in a neonate with congenital human immunodeficiency virus infection

We present a case report of a term neonate with congenital human immunodeficiency virus (HIV) infection born with nonimmune hydrops fetalis who developed hepatitis shortly after birth. Maternal HIV infection was diagnosed after delivery. An extensive evaluation for known causes of nonimmune hydrops, both infectious and noninfectious, was negative. After beginning highly active antiretroviral therapy, hepatitis resolved and the HIV viral load became undetectable. We believe this is the first report of nonimmune hydrops fetalis and hepatitis in an infant with congenital HIV infection.     

Genetic causes of hydrops fetalis.

A series of 1790 fetal and neonatal autopsies performed between 1976 and 1988 were retrospectively investigated for the presence of hydrops. Thirty (5.5%) and 35 (2.8%) cases of hydrops were found in the groups of fetal and neonatal autopsies, respectively. Genetic causes accounted for 35%. A careful search for previously reported genetic causes of fetal hydrops indicated 64 different etiologies. Twenty-one of them were not mentioned in the previous reviews: these include 9 skeletal dysplasias, 5 inborn errors of metabolism, 3 autosomal recessive, 3 autosomal dominant conditions, and 1 chromosomal abnormality.     

以胎儿水肿为特征的先天性甲状腺功能减低症 1 例报告

目的探讨胎儿水肿的鉴别诊断和新生儿期先天性甲状腺功能减低症的罕见表现。方法回顾性分析1例因胎儿水肿导致产时窒息和呼吸衰竭,最终诊断为先天性甲状腺功能减低症的新生儿病例的临床资料,并复习相关文献。结果患儿女,维吾尔族,胎龄38+5周,因宫内窘迫剖宫产,出生后发现全身性皮下水肿伴青紫和呼吸困难。予气管插管呼吸机辅助通气;日龄1 d甲状腺功能测定发现血清促甲状腺激素??100 m U/L,游离甲状腺素6.56 pmol/L;超声提示甲状腺未发育。应用左旋甲状腺素片替代治疗后临床症状好转,日龄8 d撤离呼吸机。根据临床和实验室监测调整用药剂量,于日龄18 d时带药出院门诊随访。结论先天性甲状腺功能减低症可成为胎儿水肿的病因,应注意鉴别诊断。     

Nonimmunologic hydrops fetalis: a clinicopathological study of 50 autopsy cases

Fifty cases of nonimmunologic hydrops fetalis found in Japanese infants are reported. Nonimmunologic hydrops fetalis is associated with various pathological conditions, twin transfusion syndrome including acardiac monsters, fetal heart diseases, congenital cystic adenomatoid malformation, pulmonary sequestration, pulmonary lymphangiectasia, intrauterine infections such as cytomegalovirus infection and neonatal hepatitis, congenital neuroblastoma, Kasabach-Merritt syndrome, cystic hygroma, and chromosomal aberrations. The mechanism of hydrops fetalis found in these conditions is discussed from various viewpoints. Despite a careful examination, no causative conditions were found in 14 cases. The placenta showed a proliferation of Hofbauer cells that were strongly positive for immunoreactive alpha 1-antichymotrypsin and there were other common findings such as edema of terminal villi and fibrin thrombi.     

Intrauterine treatment on non-immune hydrops fetalis.

In 51 cases with non-immunologic hydrops fetalis (NIHF), perinatal management was performed based on our protocol. Twenty-two cases were treated by albumin and/or packed red cell (PRC) injection into the fetal abdominal cavity, and 9 cases by transplacental digitalization. Among the cases treated by albumin and/or PRC injection, 6 of 8 cases without pleural effusion recovered in utero, and all 6 cases are alive. However, of 14 cases with pleural effusion, none recovered in utero, and only one case is alive. Of 9 cases treated by transplacental digitalization, 2 cases recovered in utero, and only one case is alive. All fetuses with congenital heart anomaly died. This evidence indicates that albumin and/or PRC injection into the fetal abdominal cavity is an effective procedure for in utero treatment of NIHF without pleural effusion, but suggests that in NIHF resulting from either congenital heart anomaly and/or heart failure, the survival rate may not be increased by transplacental digitalization.     

Short-term and long-term outcomes of 214 cases of non-immune hydrops fetalis

Despite advances in diagnosis and management, non-immune hydrops fetalis (NIHF) has a high mortality rate. Perinatal survival depends on the underlying disorder and the gestational age at diagnosis. As prognostic information is limited, this study acquired data regarding the neurological development of perinatal survivors.We performed a retrospective chart review of 214 cases in which NIHF was diagnosed antenatally. We recorded maternal demographic characteristics and interventions and their effectiveness, as well as the short-term outcome (survival) and long-term outcome including developmental quotients. Among the affected fetuses, 91 (42.5%) survived the perinatal period. Fetuses with chylothorax, chyloascites, or meconium peritonitis, and those in whom therapy was effective, had high survival rates irrespective of the type of intrauterine intervention. The subsequent intact survival rate was 28/56 (50.0%), with intact defined as ratio of the number of infants with normal development to the number of all infants followed. In contrast to the perinatal survival rate, the intact survival rate decreased as gestational age at diagnosis advanced. These findings suggest that the long-term intact survival rate depends on the underlying cause of NIHF. Additionally, while survival was improved with intensive perinatal care during the perinatal period, aggressive perinatal intervention was not a prognostic factor for neurological outcome.     

Intrauterine brain damage in nonimmune hydrops fetalis.

Nonimmune hydrops fetalis has been described in a large number of pathological conditions, but brain aspect has been poorly explored. We report the neuropathological findings in a series of 38 fetuses and neonates with anasarca of various origin. Fourteen fetal cerebral ultrasonograms were available; 8 presented some abnormalities. On brain examination, 23 cases showed hypoxic-ischemic lesions. The white matter was the main site of damage that consisted in classical leucomalacia or other features such as: astrocytic glial reaction, microcalcifications and microthromboses either as isolated finding or in association. Anoxic neuronal damage was much less frequent. Anemia, hypoprotidemia and cardiac failure with hypotension, which often occur in hydrops fetalis, may account for brain perfusion failure and hypoxic-ischemic changes.     

The contribution of extramedullary hematopoiesis to hepatomegaly in anemic hydrops fetalis: a study in alpha-thalassemia hydrops fetalis

Massive hepatomegaly is a common finding in hydrops fetalis (HF) arising from hemoglobinopathies. It has been suggested that extramedullary hematopoiesis, which is markedly increased in response to anemia, plays a principal role in hepatomegaly via sinusoidal obstruction and distortion of the intrahepatic architecture. To test this concept, the authors compared 20 cases of α-thalassemia (hemoglobin Bart, 15 cases; hemoglobin H, 5 cases) with 19 cases of HF arising from other causes and 39 control nonhydrops cases. The mean liver weight in α-thalassemia cases was significantly heavier than in control cases and in hydrops fetalis cases due to other causes (P < 0.01). This was not explainable on the basis of extramedullary hematopoiesis (erythropoiesis or myelopoiesis) or hemosiderin deposition, since cases of HF from other causes, especially related to anemia, showed similar findings to α-thalassemia cases. While these processes no doubt contribute to hepatic weight, the major factor would still be high-output cardiac failure causing hepatic congestion.     

Intrapericardial teratoma causing nonimmune hydrops fetalis and pericardial tamponade: A case report

Summary A case of fetal anasarca secondary to an intrapericardial teratoma is reported. The clinical, echocardiographic, and histologic features are described, along with a review of intrapericardial lesions.     

Familial malrotation: report of three affected siblings

We herein report the case of three siblings presenting with intestinal malrotation. Their medical history and circumstances of diagnosis are described. Barium meal demonstrated a minor duodenal anomaly in the mother. As far as we can ascertain, this is the third report of isolated familial malrotation in more than one generation, raising questions about its developmental mechanism. We thus highlight in what circumstances familial investigations should be undertaken in case of malrotation.