Hydrops fetal no inmune / Non-immune hydrops fetalis

Se define hydrops fetal no inmune (HFNI) como la acumulación anormal de líquido en piel (edema) y en cavidades corporales (derrame pericárdico, pleural o ascitis), sin la evidencia de anticuerpos circulantes dirigidos frente a antígenos eritrocitarios. El HFNI, es una condición causada por un grupo heterogéneo de patologías cardiovasculares, gastrointestinales, pulmonares, cromosómicas, hematológicas e infecciosas, y es una importante causa de pérdida perinatal, con una mortalidad que varía entre el 50 y el 98%, según la etiología (AU)

Non-immune hydrops fetalis (NIHF ) is characterized by abnormal accumulation of serous fluid in the skin (edema ) and body cavities ( pericardial, pleural or ascitic effusions), without evidence of circulating antibodies against red blood cell antigens. This entity is caused by a heterogeneous group of disorders, including cardiovascular, gastrointestinal, pulmonary, chromosomal, hematological and infectious diseases. NIHF is an important cause of perinatal loss, with mortality ranging from 50% to 98%, depending on the etiology (AU)

Malformación adenomatoidea quística: diagnóstico prenatal, resultados de la cirugía y seguimiento a largo plazo / Congenital cystic adenomatoid malformation: prenatal diagnosis surgical treatment results and long-term follow-up

Introducción. El diagnóstico prenatal (DP) posibilidad de regresión, mortalidad oculta y momento de la cirugía son cuestiones abiertas en el seguimiento de niños con malformación adenomatoidea quística (MAQ). Pacientes y métodos. Revisamos en las historias de niños con MAQ entre los años 1995 y 2005: diagnóstico prenatal y posnatal, presentación clínica y radiológica, intervención quirúrgica, histología y evolución. Resultados. Diecisiete fetos tenían DP de MAQ. Cinco (41%) se abortaron de manera electiva con DP previo a la semana 20, 3/5 (60%) fueron tipo III y 2/5 (40%) tipo I; 4/5 (80%) presentaban desplazamiento cardíaco y 1/5 (20%) anasarca y ascitis. Dos (11%) fueron abortos espontáneos con DP en las semanas 20 y 32; 1 tipo I y 1 tipo III; 1/2 (50%) presentaba hidrops y 2/2 (100%) desplazamiento cardíaco. Dos (12%) murieron antes de las 24 horas de vida sin posibilidad de intervención por inestabilidad, 1 tipo II y 1 tipo III, ambos con desplazamiento cardíaco (100%). En 1 (6%) con DP de MAQ tipo III en la semana 20 desapareció la imagen en la semana 32; no fue intervenido y está asintomático. Catorce pacientes fueron intervenidos (8 niñas y 6 niños); 7/14 (50%) tenían DP, la semana media de diagnóstico fue 21,9 (rango 19,1- 35,5), 5/7 (71%) fueron tipo I, 1/7 (14%) tipo II y 1/7 (14%) tipo III. Ninguno tenía desplazamiento cardíaco o hidrops. La mediana de edad de diagnóstico posnatal fue 7 meses (rango 0,1-29). En 10/14 (71,4%) no existió dificultad respiratoria en el período neonatal desarrollando 3/10 (30%) infección posteriormente. La mediana de edad de la intervención quirúrgica fue 8 meses (rango 0,1-30). En 11/13 (84%) casos se hizo lobectomía y en 2 (16%) lobectomía acompañada de segmentectomía. En 1 caso sin lesiones radiológicas posnatales se hizo exploración quirúrgica sin resección. El resultado histológico fue MAQ tipo I 9/13 (69%), tipo II 1/13 (7,6%) y tipo III 3/13 (23%). El DP se correspondía con el histológico en 6/7 (86%) pacientes. Tras un seguimiento medio de 4.3 años (rango 1-9,5) la única complicación es un pectus leve. Conclusiones. Más de la mitad (52%) de los niños con DP de MAQ mueren sin ser intervenidos. El DP diagnostica MAQ en la mitad de los casos y el tipo de MAQ en el 86% de éstos. En el DP el desplazamiento cardíaco y el hidrops se asocian a una alta mortalidad por aborto espontáneo o en el período neonatal inmediato siendo estos pacientes susceptibles de cirugía fetal. El pronóstico de los niños intervenidos sin DP o con DP sin hidrops, anasarca o ascitis es excelente. No hemos encontrado cambios en la evolución relacionados con el tipo de resección o el momento de ésta (AU)

PURPOSE: (PD), possibility of regresion and hidden mortality are open questions in congenital cystic adenomatoid malformation (CCAM) treatment. METHODS: Children with CCAM were reviewed focused on: PD, postnatal diagnosis, clinic, radiology, histology and evolution. RESULTS: Seventeen fetus had PD of CCAM. Five gestations were electively finished (41%) with PD of CCAM previous to 20th week, 3/5 (60%) were type III and 2/5 (40%) type I; 4/5 (80%) presented mediastinal shift and 1/5 (20%) hidrops. Two fetuses (11%) suffered fetal demise in 20th and 32th week; 1 type 1 and 1 type III; 1/2 (50%) presented hidrops and 2/2 (100%) mediastinal shift. Two (12%) died before 24 hours after birth without intervention possibility due to respiratory instability, 1 type II and 1 type III, both with mediastinal shift (100%). In one fetus with a type III malformation the image disappeared completely in 32th week and no intervention was done. Fourteen patients were operated (8 girls and 6 boys); 7/14 (50%) had PD, average diagnosis week was 21.9 (range 19.1-35.5), 5/7 (71%) was type I, 1/7 (14%) type II and 1/7 (14%) type III. None had mediastinal shift or hidrops. Average postnatal diagnosis week was 7 months (range 0.1-29). In 10/14 (71.4%) there were not respiratory difficulty during neonatal period and 3/10 (30%) suffered respiratory infections afterwards. Average week of operation was 8 months (range 0.1-30). PD was according with histology in 6/7 (86%) patients. After an average follow-up period of 4.3 years (range 1-9.5) the only complication is a pectus excavatum. CONCLUSIONS: More than half of patients with PD of CCAM died without intervention. Half of cases of CCAM are diagnosed prenatally. Type of CCAM in PD is according to histology in 86% of the cases. Fetuses with hidrops present a worse prognosis. Surgical timing do not seem to influence on outcome (AU)

Characteristics and outcomes of fetuses with pericardial effusions.

Little is known about the characteristics and outcomes of fetuses with pericardial effusions (PEs); therefore, this study sought to identify factors associated with fetal PEs and the natural histories and outcomes of fetuses with PEs. Large PEs are associated with a greater likelihood of structural heart disease, impaired cardiac function, and chromosomal abnormalities, and PEs with hydrops or extracardiac malformations are associated with death. Most fetal PEs resolve, and fetuses with isolated PEs have a very good prognosis.

Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops: a case report.

BACKGROUND: Noonan syndrome is a very rare disorder; its prevalence is 1/1,000-2,500 births. The special facial features, short stature, eventual cardiac anomalies and familiar history are the most important characteristics of the diagnosis. CASE: A Noonan syndrome patient delivered a healthy infant after a complicated delivery. The delivery followed 3 unsuccessful pregnancies. The previous pregnancies were terminated before the 24th gestational week because of general fetal hydrops as well as other malformations. CONCLUSION: In the prenatal care of a patient with Noonan syndrome the genetic and obstetric aspects are equally important. In establishing the diagnosis, ultrasonography is of utmost importance. As in our case, complications after cesarean section highlight the higher risk of delivery in women with Noonan syndrome.

Prenatal diagnosis of complete atrioventricular block associated with structural heart disease: combined experience of two tertiary care centers and review of the literature.

OBJECTIVE: To review the pattern of presentation, management and outcome of fetal complete atrioventricular block (CAVB) associated with major structural congenital heart disease (CHD), when compared to isolated CAVB. METHODS: Retrospective analysis of the medical records and echocardiograms of all CAVB cases, diagnosed prenatally at two tertiary care centers between the years 1990 and 2002. RESULTS: Of a total of 59 consecutive fetal cases of CAVB, 24 (41%) had underlying major CHD, mainly left isomerism (n = 18) and congenitally corrected transposition of the great arteries (cc-TGA) (n = 3). When compared to isolated CAVB (n = 35), cases with CHD were detected earlier (21 +/- 6 vs. 26 +/- 6 weeks; P < 0.02) and-despite comparable heart rates-more often had fetal hydrops (38% vs. 9%; P < 0.02), while pregnancy continuation (66% vs. 94%; P < 0.02) or prenatal treatment (19% vs. 64%; P < 0.001) was less likely. Of 16 CHD cases with pregnancy continuation, beta-inotropic treatment of fetal bradycardia was attempted in three cases: all had left isomerism and died early postnatally. Livebirth and 1-year survival rates of CAVB with CHD were 56% and 19%, respectively, when compared to isolated CAVB with 88% and 75%, respectively (P < 0.0001). The four neonatal survivors (one left isomerism, three cc-TGA) had heart rates persistently > 60 bpm throughout gestation and 3/4 underwent a biventricular repair. CONCLUSIONS: Fetal CAVB with CHD continues to be associated with a poor outcome, in particular in the presence of left isomerism and fetal heart rates < 60 bpm.

Atrioventricular block detected in fetal life: associated anomalies and potential prognostic markers.

OBJECTIVES: To assess the spectrum of anomalies associated with fetal heart block and to identify possible prognostic markers. METHODS: Retrospective review of all cases of second- or third-degree heart block identified in two tertiary referral centers in Germany (Bonn and Lübeck) and one in the USA (Baltimore). RESULTS: Sixty fetuses with heart block were identified in the study period. Thirty-two had complex cardiac malformations, 31 of them associated with left isomerism. The outcomes of these fetuses were 22 terminations of pregnancy (TOP), three intrauterine fetal deaths (IUFD), three neonatal deaths (NND), two childhood deaths (CD) and there were two survivors. In 20 cases without complex cardiac malformations maternal antinuclear-antibodies were detected. Their outcomes were 2 TOP, 1 IUFD, 1 NND and 16 survived. The remaining eight cases had neither complex cardiac malformations nor associated maternal antibodies. Their outcomes were 1 TOP, 2 IUFD, 2 NND and 3 survived. After exclusion of terminated cases, hydrops as well as the presence of cardiac defects was significantly associated with non-survival (P < 0.01). The cardiothoracic circumference ratio was significantly higher in hydropic fetuses and significantly negatively correlated with survival in immune-mediated cases (P < 0.01). Atrial and ventricular frequencies and their evolution did not accurately predict fetal or neonatal outcome. Sympathomimetic treatment in seven cases was not associated with favorable fetal outcome in cases of hydrops or cardiac malformations. CONCLUSIONS: The most important marker predicting adverse outcome in cases of heart block is fetal hydrops, followed by the association with complex cardiac malformations. Cases without cardiac malformations have a significantly better prognosis, especially in the absence of severe cardiomegaly.

A new syndrome of myopathy with muscle spindle excess.

Arthrogryposis may result from various neuromuscular or connective tissue disorders leading to in utero hypokinesia or akinesia and the prenatal development of joint contractures. We report the case of a preterm neonate born with arthrogryposis and flaccid quadriplegia that led to the diagnosis of myopathy with muscle spindle excess. The rare and unusual histopathologic abnormality associated with the myopathy illustrated in this case has been described in only three other cases in the medical literature. The concurrence of hypertrophic cardiomyopathy, arthrogryposis, and myopathy with muscle spindle excess suggests the presence of a newly described syndrome. This case clearly demonstrates that specific prenatal ultrasonographic findings combined with the presenting clinical manifestations should promptly raise the suspicion of a neuromuscular disorder.

Outcome of congenital cystic adenomatoid malformation of the lung after antenatal diagnosis.

OBJECTIVE: We evaluated the outcome of fetuses diagnosed with having congenital cystic adenomatoid malformation (CCAM) on ultrasonographic examination and managed conservatively. METHODS: A retrospective study of 19 cases of CCAM diagnosed antenatally in our hospital was conducted between 1990 and 2001. Complete clinical information was available for all patients, with a mean follow-up of 62 months. RESULTS: The median gestational age at which CCAM was diagnosed was 23 weeks and there were eight live births. With conservative postnatal management, seven neonates had no major complications and one developed bronchopneumonia. CONCLUSION: Taken together, the findings of the present study and a review of the literature strongly support the conservative management of selected neonates with CCAM.

Intrauterine therapy for fetal supraventricular tachycardia in a twin pregnancy.

A case of a twin pregnancy in which one fetus developed hydrops secondary to supraventricular tachycardia was detected at 21 weeks' gestation. Transplacental digoxin therapy successfully converted the supraventricular tachycardia to a normal sinus rhythm without evidence of maternal or fetal side-effects. The pregnancy proceeded to term and elective cesarean section was carried out at 37 weeks' gestation.

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.

OBJECTIVES: To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. METHODS: Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed. RESULTS: A 6-cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality. CONCLUSION: This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy.

[A neonatal case of anterior spinal artery syndrome presenting with bilateral arm paresis].

Anterior spinal artery syndrome is rare in children, especially in neonates. We present a girl with hydrops fetalis and hypothyroidism who developed flaccid paresis of both arms in the neonatal period (around day 25). MRI of the spine performed on day 52 revealed atrophic changes at C5-Th1 without Gd-DTPA-induced enhancement. Nerve conduction studies were also helpful in the diagnosis;in the upper limbs, motor potential was not elicited, while sensory nerve conduction velocity was normal. These clinical and laboratory findings suggested an atypical case of anterior spinal artery syndrome.

Prenatal diagnosis and management of mainstem bronchial atresia.

The prenatal diagnosis, natural history and management of mainstem bronchial atresia have not been described previously. We report two cases of prenatally diagnosed proximal bronchial atresia. The first patient presented at 18 weeks with sonographic and MRI findings consistent with bronchial atresia with fetal hydrops. The mother developed the mirror syndrome and labor was induced. A non-viable fetus was delivered at 25 weeks. The second patient presented at 16 weeks gestation with evidence of an intrathoracic mass that was subsequently prenatally diagnosed as a right mainstem bronchial atresia. The right lung increased rapidly in size and was associated with the onset of fetal hydrops. At 24 weeks, fetal pneumonectomy was performed but the fetus expired intraoperatively due to cardiovascular collapse. Post-mortem findings in both cases confirmed the presence of an atretic mainstem bronchus with massive enlargement of the lung. Bronchial atresia involving the mainstem bronchus is associated with a poor prognosis.

Guidelines for the evaluation of heart failure in the fetus with or without hydrops.

Fetal echocardiography has progressed to be able to diagnose many forms of congenital heart disease and to assess the prognosis of cardiac lesions based on their anatomy and presentation in utero. However, the presence of signs of fetal heart failure, such as hydrops or valvular regurgitation, makes the assessment of prognosis difficult. This article outlines a straightforward method for the rapid evaluation of the fetus who may have congestive heart failure. The differentiation of the prehydropic state from normal is illustrated.

Acute cardiovascular effects of fetal surgery in the human.

BACKGROUND: Prenatal surgery for congenital anomalies can prevent fetal demise or alter the course of organ development, resulting in a more favorable condition at birth. The indications for fetal surgery continue to expand, yet little is known about the acute sequelae of fetal surgery on the human cardiovascular system. METHODS AND RESULTS: Echocardiography was used to evaluate the heart before, during, and early after fetal surgery for congenital anomalies, including repair of myelomeningocele (MMC, n=51), resection of intrathoracic masses (ITM, n=15), tracheal occlusion for congenital diaphragmatic hernia (CDH, n=13), and resection of sacrococcygeal teratoma (SCT, n=4). Fetuses with MMC all had normal cardiovascular systems entering into fetal surgery, whereas those with ITM, CDH, and SCT all exhibited secondary cardiovascular sequelae of the anomaly present. At fetal surgery, heart rate increased acutely, and combined cardiac output diminished at the time of fetal incision for all groups including those with MMC, which suggests diminished stroke volume. Ventricular dysfunction and valvular dysfunction were identified in all groups, as was acute constriction of the ductus arteriosus. Fetuses with ITM and SCT had the most significant changes at surgery. CONCLUSIONS: Acute cardiovascular changes take place during fetal surgery that are likely a consequence of the physiology of the anomaly and the general effects of surgical stress, tocolytic agents, and anesthesia. Echocardiographic monitoring during fetal surgery is an important adjunct in the management of these patients.

The use of cardiopulmonary bypass and extracorporeal membrane oxygenation for support during removal of two teratomas and hydrops fetalis.

The removal of massive tissue tumors often leads to rapid blood loss and decreased lung compliance because of large volume shifts. Cardiopulmonary bypass (CPB) and extracorporeal membrane oxygenation (ECMO) have both been used as a means of support during resection of saccrococcygeal teratomas. Hydrops fetalis is the accumulation of fluid in extravascular spaces and body cavities. This leads to edema and sometimes hypoxia. ECMO has been used for support during treatment of hydrops fetalis. This patient was diagnosed, via sonogram, at 30 weeks gestation to have two teratomas and hydrops fetalis. Because of the risk of hemorrhage and poor lung compliance during removal of these types of tumors, CPB and ECMO were used. This support allowed for successful removal of the tumors. Following removal of the tumors, the patient failed to wean from CPB because of the severity of hydrops. The patient remained on extracorporeal support for treatment of hydrops fetalis. This report describes the perfusion techniques used for support during the removal of teratomas and the treatment of hydrops fetalis.

Renal tumors in infants less than 6 months of age.

BACKGROUND/PURPOSE: Renal tumors are rare in infants less than 6 months of age and may have associated paraneoplastic symptoms. To better define the characteristics of these tumors the authors reviewed their 10-year institutional experience. METHODS: The authors searched the pathology database to identify all renal tumors resected at their institution since 1992 (after IRB approval and guidelines). The clinical presentation, operative details, pathology, and outcome for all children < or = 6 months of age were reviewed. RESULTS: Of 101 children who had renal tumors resected during this period, 11 (11 %) were 6 months of age or less. Histopathologic examination showed congenital mesoblastic nephroma (CMN) in 7 patients (4 with cellular features), Wilms' tumor in 3 patients, and ossifying renal tumor of infancy in 1. Renal masses were detected antenatally in 2 patients and during newborn examination in 1 patient; however, the mean age at diagnosis was 72 +/- 18 days. Ten children had a palpable abdominal mass, 3 had gross hematuria, and 6 had hypertension (4 CMN; 2 Wilms'). Only 1 child had hypercalcemia (cellular CMN). Ten infants had nephroureterectomy, and 1 had a partial nephrectomy. All patients had either stage I or II disease. At follow-up (mean 4.2 +/- 1.2 years) 10 patients are alive with no evidence of disease. One newborn with hydrops and a very large congenital Wilms' tumor had abdominal compartment syndrome and died during surgery. CONCLUSIONS: About 10% of renal masses may occur in infants less than 6 months of age. Although mesoblastic nephroma is the most common renal tumor in this age group, Wilms' tumor also may be seen. Paraneoplastic syndromes, such as hypertension and hypercalcemia, are common in these infants and are not specific for tumor type. These tumors generally present at an early stage and have an excellent prognosis overall.

Nonimmune fetal ascites: a series of 79 cases.

OBJECTIVE: The purpose of this study was to analyze the precision of ultrasonography in defining the cause and prognosis in fetal ascites. STUDY DESIGN: We conducted a retrospective study of 79 cases of fetal ascites. RESULTS: The mortality rate was 57% overall and ranged from 100% (7/7 cases) for metabolic storage disease to 0% (0/3 cases) in chylous ascites. Ascites before 24 weeks of gestation or combined with fetal hydrops indicates poor prognosis (respectively, 78.6% vs 45% mortality rate after 24 weeks; P<.01; and 77% vs 50.8% without hydrops; P<.02). Ascites was organic in 45 cases, infectious in 13 cases, idiopathic in 12 cases, and genetic in 9 cases. The cause was defined ultrasonographically in 28 of the 45 organic ascites and in 8 of the 25 isolated ascites. Urinary cause was the most frequent and the most successfully specified cause (14/15 cases). CONCLUSION: Routine ultrasonography detects fetal ascites, but the cause is extremely variable and difficult to specify. When associated with fetal hydrops, the prognosis is poor.

Amiodarone therapy for drug-refractory fetal tachycardia.

BACKGROUND: Fetal tachycardia complicated by ventricular dysfunction and hydrops fetalis carries a significant risk of morbidity and mortality. Transplacental digoxin is effective therapy in a small percentage, but there is no consensus with regard to antiarrhythmic treatment if digoxin fails. This study evaluates the safety, efficacy, and outcome of amiodarone therapy for digoxin-refractory fetal tachycardia with heart failure. METHODS AND RESULTS: Fetuses with incessant tachycardia and either hydrops fetalis (n=24) or ventricular dysfunction (n=2) for whom digoxin monotherapy and secondary antiarrhythmic agents (n=13) were not effective were treated transplacentally with a loading dose of oral amiodarone for 2 to 7 days, followed by daily maintenance therapy for <1 to 15 weeks. Digoxin therapy was continued throughout gestation. Newborns were studied by transesophageal pacing or ECG monitoring to determine the mechanism of tachycardia. Three fetuses were delivered urgently in tachycardia during amiodarone loading, and 3 required additional antiarrhythmic agents for sustained cardioversion. Amiodarone or amiodarone combinations converted 14 of 15 (93%) with reentrant supraventricular tachycardia, 2 of 2 with ventricular or junctional ectopic tachycardia, and 3 of 9 (33%) with atrial flutter. Amiodarone-related adverse effects were transient in 5 infants and 8 mothers. Mean gestational age at delivery was 37 weeks, with 100% survival. CONCLUSIONS: Orally administered amiodarone is safe and effective treatment for drug-refractory fetal tachycardia, specifically reentrant supraventricular tachycardia, junctional ectopic, or ventricular tachycardia, even when accompanied by hydrops fetalis or ventricular dysfunction.