Ebstein anomaly as a rare cause of a non-immunological fetal hydrops: prenatal diagnosis using Doppler echocardiography

The Ebstein's malformation occurs in 0.5% of patients with congenital heart disease. The prenatal diagnosis of such a malformation in the 33rd week of pregnancy is reported. The fetal echocardiography was performed owing to a severe nonimmune hydrops fetalis. The typical distal displacement of the annular attachment of the tricuspid valve leaflets could be viewed in the apical four-chamber view. The application of the pulsed Doppler ultrasound enables the analysis of the cardial haemodynamics and thus the assessment of the severity and prognosis of the diagnosed malformation. In our case the prognosis was interdisciplinary estimated as being very poor (severe cardiac lesion with congestive heart failure already in utero); In the following days intrauterine death occurred. The autopsy confirmed all the prenatal findings.     

Value of Autopsy in Nonimmune Hydrops Fetalis: Series of 51 Stillborn Fetuses

Nonimmune hydrops fetalis (NIHF) is used to describe fetuses and newborns with generalized edema and cavity effusions. It is helpful to alert physicians about the presence of anemia, heart failure, and/or hypoproteinemia, but this diagnosis is frequently overlooked. We reviewed the autopsy files from 1990 to 2000, selected all cases with NIHF including clinical information (with maternal laboratory tests and ultrasound), and classified patients by etiology. Among 840 stillborn autopsies during the 11-year period, we found 51 with NIHF (6.07%). The clinical summary had mentioned hydrops in 14 patients and the etiology in another 7 by fetal ultrasonography, but without addressing the possibility of hydrops. In the remaining 30 cases neither hydrops nor an etiology was mentioned. Other pertinent diagnoses were maternal diabetes mellitus (4), congenital heart disease (3), and cystic hygroma (2). The following diagnoses were made in one instance each: cardiac tumor, twin transfusion syndrome, congenital adenomatoid malformation, syphilis, Turner syndrome, and cerebral arteriovenous malformation. Postmortem and placental examination confirmed the following etiologies: congenital infections (17); placental pathology significant enough to explain NIHF (10); cardiovascular diseases (8) (further classified as congenital heart disease [3], rhabdomyoma [1], and vascular malformations [4]); chromosomal abnormalities (6); uncontrolled maternal diabetes (4); intrathoracic lesions (2); prune-belly syndrome (2); and idiopathic NIHF (2). Only 3.9% of the cases studied had no identifiable etiology. The cause of hydrops was confirmed by autopsy in 47 fetuses (92%), which further supports the importance of performing an autopsy. Thirty-two cases (62.74%) had placental abnormalities helpful to the etiology (parvovirus, syphilis, Turner's syndrome, etc.). In 20 instances, the clinical summary had no mention of either hydrops or any of the diseases leading to it. The autopsy in conjunction with placental examination and fetal ultrasound represent the best combination to determine the etiology of NIHF among stillborn fetuses.     

Progression of congenital heart disease in the prenatal period

BACKGROUND: Prenatal echocardiography has shown evidence of prenatal development of congenital heart disease. Prenatal cardiac anatomy, chamber size and function change during gestation, so that the appearance of cardiac structure in abnormal hearts may be different from that which is usually seen postnatally. METHODS: Published prenatal echocardiographic studies were reviewed and in utero development of congenital heart disease from midtrimester to the early postnatal period is discussed. RESULTS: The growth of the great vessels and ventricles is reduced in fetuses with ventricular outflow obstruction. Valve regurgitation may progress. The foramen ovale and ductus arteriosus have been reported to become restrictive in utero in several settings. Pulmonary vascular obstructive changes may progress prenatally. Fetal arrhythmia (both bradycardia and tachycardia) may develop in utero. Development of congestive heart failure is a very important issue during follow up of fetuses with significant cardiac or extracardiac problems. Some may progress to fetal hydrops and prognosis of the affected fetuses is usually very poor. CONCLUSIONS: Correct knowledge of possible development is important for accurate prenatal diagnosis. Information on prenatal progression of the cardiac anomaly is also important to make plans for follow up and perinatal management, to predict outcomes and to counsel family. Furthermore, the benefits of prenatal treatment instead of postnatal treatment should be assessed by the accurate prediction of the progression of the cardiac problem in utero. Further extensive studies using a large number of cases is required to predict progression accurately. In addition, further studies for elucidating the mechanisms of progression is important to provide better outcomes for fetuses with various congenital heart diseases.     

Severe fetal anemia as a consequence of extra‐abdominal umbilical vein varix: A case report and review of the literature

Umbilical vein varix is associated with a high incidence of fetal anomalies and perinatal complications. There are two types of umbilical vein varix: fetal intra‐abdominal and extra‐abdominal. Herein, a case is reported of severe fetal anemia with extra‐abdominal umbilical vein varix. A 33‐year‐old primigravida was referred to our hospital for fetal growth restriction, fetal cardiomegaly, and decreased fetal movements at 26 weeks' gestation. A Doppler assessment showed an elevated middle cerebral artery peak systolic velocity at 2.2 MoM, suggesting fetal anemia. Umbilical vein varix had caused intermittent turbulent flow, provoking hemolytic anemia. Intrauterine transfusion improved fetal circulatory failure and anemia and prolonged gestational period. At 33 weeks' gestation, the patient underwent cesarean delivery due to nonreassuring fetal status. Pathological analysis revealed focal loss of vascular smooth muscle of the umbilical vein. Extra‐abdominal umbilical vein varix has been reported in 14 cases including this case. The antenatal diagnosis rate is reported to be 79%; fetal heartbeat abnormalities and fetal deaths were reported as 50% and 14%, respectively. Eighty‐six percent of patients had intra‐umbilical cord thrombosis, but currently this is the only case of hemolytic anemia. Furthermore, extra‐abdominal umbilical vein varix may present as fetal hydrops with anemia. During ultrasound examination of fetal anemia, umbilical cord screening should be performed with caution.     

Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies. Received January 6, 1998; accepted May 25, 1998.     

Cardiac abnormalities and nonimmune hydrops fetalis: a coincidental, not causal, relationship

Few conditions associated with nonimmune hydrops fetalis have had a demonstrable causal relationship. Congenital heart disease is often said to be a cause of nonimmune hydrops fetalis and antenatal closure of the foramen ovale is the cardiac abnormality most frequently reported in association with hydrops. In order to examine the role of congenital heart disease in hydrops, and, in particular, that of antenatal closure of the foramen ovale, we reviewed all autopsy cases with hydrops fetalis over an 11 year period and compared cardiac anomalies with those of nonhydropic controls. The incidence of various congenital heart malformations was not significantly different among these groups, suggesting that factors in addition to cardiac anomalies must be considered in the pathogenesis of nonimmune hydrops fetalis.     

Cardiac Abnormalities and Nonimmune Hydrops Fetalis: a Coincidental, Not Causal, Relationship

Few conditions associated with nonimmune hydrops fetalis have had a demonstrable causal relationship. Congenital heart disease is often said to be a cause of nonimmune hydrops fetalis and antenatal closure of the foramen ovale is the cardiac abnormality most frequently reported in association with hydrops. In order to examine the role of congenital heart disease in hydrops, and, in particular, that of antenatal closure of the foramen ovale, we reviewed all autopsy cases with hydrops fetalis over an 11 year period and compared cardiac anomalies with those of nonhydropic controls. The incidence of various congenital heart malformations was not significantly different among these groups, suggesting that factors in addition to cardiac anomalies must be considered in the pathogenesis of nonimmune hydrops fetalis.     

Vein of Galen aneurysmal malformation: a neonatal case with unusual evolution]

We report on a neonatal patient case with a cerebral vascular dilation consistent with a vein of Galen malformation diagnosed on an antenatal doppler ultrasound examination. Antenatal diagnosis was confirmed by fetal MRI scan. After delivery, cerebral MRI scan found the same dilatation and showed no cerebral parenchymal damage. The infant's condition was stable and particularly there was no congestive cardiac failure. Before discharge at ten days of age, clinical examination and particularly cardiac examination was normal. At 14 days of age, symptoms in relation to a congestive cardiac failure appeared. Echocardiography showed a high output cardiac failure with no cardiac malformation. Infectious laboratory tests were normal. Evolution was initially favourable after digitalo-diuretic treatment. Unfortunately, death occurred at 36 days of age due to intractable cardiac failure. This case highlights that, unusually, heart failure can occur long after the first days of life in cases of Galen vein aneurysmal malformation. The optimal time for vascular embolization in neonatal cases of Galen vein aneurysmal malformation is discussed.     

Pulmonary Agenesis Association with Nonimmune Hydrops

Bilateral pulmonary agenesis is a rare malformation with 13 cases previously reported. To our knowledge, none of these cases have been associated with hydrops fetalis. We report a 36 weeks, hydropic female infant (46XX) with bilateral pulmonary agenesis, unilateral microophthalmia, and bilateral renal dysplasia. These eye and pulmonary findings have now been associated several times and may constitute a new syndrome. Ultrasound examination before delivery showed polyhydramnios and fetal hydrops. At autopsy the heart was structurally normal, aside from absent pulmonary connections. The ductus arteriosus was partially closed. This was felt to be etiologic in the hydrops. As the source of the amniotic fluid here could not be urine or pulmonary secretions, direct fluid transfer from fetal vasculature or skin was the likely origin.     

Pulmonary agenesis association with nonimmune hydrops

Bilateral pulmonary agenesis is a rare malformation with 13 cases previously reported. To our knowledge, none of these cases have been associated with hydrops fetalis. We report a 36 weeks, hydropic female infant (46XX) with bilateral pulmonary agenesis, unilateral microophthalmia, and bilateral renal dysplasia. These eye and pulmonary findings have now been associated several times and may constitute a new syndrome. Ultrasound examination before delivery showed polyhydramnios and fetal hydrops. At autopsy the heart was structurally normal, aside from absent pulmonary connections. The ductus arteriosus was partially closed. This was felt to be etiologic in the hydrops. As the source of the amniotic fluid here could not be urine or pulmonary secretions, direct fluid transfer from fetal vasculature or skin was the likely origin.     

Management of congenital lung lesions

The prenatal diagnostic hallmarks, natural history, and management of congenital cystic adenomatoid malformation of the lung and pulmonary sequestration are reviewed. Large lung tumors may disappear partially on serial prenatal sonography, suggesting that improvement can occur occasionally during fetal life. The fetus with a lung mass but without hydrops has an excellent chance for survival with maternal transport, planned delivery, and postnatal evaluation and surgery. The finding that fetuses with hydrops are at very high risk for fetal or neonatal death has led to successful fetal thoracoamniotic shunt placement or fetal surgical resection.     

Management and outcome in prenatally diagnosed sacrococcygeal teratomas

Background: The aim of the present study was to retrospectively determine the clinical factors affecting the outcome after birth in prenatally diagnosed sacrococcygeal teratomas (SCT). Methods: Six cases of prenatal SCT were identified from January 1985 until August 2005. A retrospective review of case‐notes and pathological reports was carried out. Clinical data during the perinatal period, operative findings, postoperative complications and follow up were evaluated in the patients with prenatally diagnosed SCT. Results: SCT presented as type I in two neonates and type III in four between 22 and 33 weeks’ gestation. Fetal intervention was not performed for any fetus. Five of six were delivered by cesarean section and the other was delivered vaginally due to small tumor size. Patients were born at between 29 and 39 weeks’ gestation and weighed from 1840 to 3500 g. All patients with type III SCT presented with related diseases, including bilateral hydronephrosis, neurological deficit of the communicating peroneal nerve such as paralytic talipes equines, bladder or bowel dysfunction, high‐output cardiac failure, or fetal hydrops in one of a set of fraternal twins. A baby with high‐output cardiac failure and fetal hydrops underwent urgent cesarean section at 29 weeks’ gestation and died 8 days after birth despite intensive care due to multi‐organ failure. In five cases, surgery was successful with good outcomes maintained at follow‐up of between 8 months and 14 years. Conclusions: Detailed ultrasound should be performed to rule out associated anomalies, and determine the presence or absence of hydrops in prenatally diagnosed SCT. Fetal hydrops, orthopedic impairment such as lower extremity weakness and swelling, and urinary incontinence are important clinical factors affecting the outcome after birth in prenatally diagnosed SCT. In particular, the present study indicated that the association of a fraternal twin and fetal hydrops makes it very difficult to treat SCT perinatally.     

Advances in Fetal Cardiac Imaging

During the past 25 years, two-dimensional imaging of the fetal heart has evolved into a sophisticated and widely practiced clinical tool, but most heart disease still goes undetected until sometime after birth, despite routine fetal ultrasound evaluations. Over the next 25 years, tremendous advances in fetal cardiac imaging, including three-dimensional imaging, promise to revolutionize both the prenatal detection and diagnosis of congenital heart disease. Image resolution continues to improve year after year, allowing earlier (10-15 week) visualization of the fetal heart, as well as the detection of subtle valvar abnormalities that may progress to serious forms of ventricular hypoplasia at term. However, fetal cardiac imaging remains constrained by limited sonographic windows. To improve the prenatal detection of congenital heart disease, outflow tracts are increasingly included along with the routine screening four-chamber view. However, while the four-chamber view resides within a single plane, lending itself to tomographic evaluation with two-dimensional ultrasound, the outflow tracts (and most forms of congenital heart disease) do not reside within a single plane. For these and other reasons, three-dimensional imaging of the fetal heart ultimately may improve the detection of outflow tract abnormalities, and facilitate comprehension of complex forms of congenital heart disease. Finally, other imaging modalities, including but not limited to Doppler tissue imaging and magnetic resonance imaging, continue to evolve and to complement two- and three-dimensional sonographic imaging of the fetal heart. As a result of these ongoing advances in the prenatal detection and assessment of congenital heart disease, these are exciting and glorious times for the field of fetal cardiac imaging.     

Evaluation and prognosis of fetal arrhythmia]

From January 1986 to August 1990, a fetal arrhythmia was diagnosed in 97 pregnant women referred to our unit. Atrial or ventricular extrasystoles were the most frequent rhythm disturbance encountered (71%). They were always well tolerated and all disappeared during the perinatal period. Tachycardia was found in 16 fetuses; 6 had a supraventricular reentrant tachycardia, 6 an atrial chaotic tachycardia, 1 an ectopic atrial tachycardia and the remaining 3 an atrial flutter. A congenital heart malformation was present in 4 fetuses. The arrhythmia induced hydrops fetalis in 25% of cases. One hydropic fetus died in utero and another needed premature delivery. Bradycardia was diagnosed in 12 cases, 3 had benign atrial blocked extrasystoles, 3 others sinus bradycardia due to fetal distress and 6 atrio-ventricular block. Atrio-ventricular block was associated with congenital malformation in 4 cases (66%). All these fetuses were hydropic and died. The 2 fetuses without cardiac malformation tolerated well their bradycardia during fetal life. Fetal arrhythmia is not rare, but in most cases is benign. Sustained tachycardia requires prompt treatment, because when hydrops fetalis appears the prognosis is worse. The major prognostic factor for atrio-ventricular block is the association with a cardiac malformation.     

Spontaneous resolution of marked dilatation of cerebral duro-venous system in newborn presenting with fetal hydrops

A newborn with antenatal diagnosis of fetal hydrops at 36 wk of gestation, presented with congestive heart failure (CHF) and generalized edema. Computed tomographic angiography showed marked dilatation of cerebral duro-venous system including vein of Galen (VOG), straight sinus, torcula and transverse sinus without evidence of arteriovenous fistulae at the vein of Galen. Dilatation of duro-venous system resolved with concomitant improvement in biventricular function and CHF with decongestive therapy. Such entity should be differentiated from more serious conditions like VOG malformation and venous sinus thrombosis.     

Echocardiographic diagnosis and intravenous digoxin management of fetal tachyarrhythmias and congestive heart failure

Fetal echocardiography now affords an accurate clinical diagnosis of nonimmune fetal hydrops secondary to fetal tachyarrhythmias and/or certain types of congenital heart disease. Individual case reports of the treatment of tachyarrhythmias have been reported that use various drugs, including digoxin, propranolol hydrochloride, procainamide hydrochloride, and digoxin plus verapamil hydrochloride. We found no report of intrauterine treatment of congestive heart failure due to congenital heart disease with sinus rhythm. The seven cases presented herein include five cases of isolated supraventricular tachycardia, one with supraventricular tachycardia and myocardial tumors, and one of congenital heart disease with congestive heart failure. Maternal treatment with digoxin converted tachyarrhythmia to sinus rhythm in all six fetuses, and resolved the hydrops in the fetus with congenital heart disease. Premature delivery was avoided in five of the seven cases with favorable outcome in six of the cases. In five mothers who were given oral digitalization, the fetuses had delayed (three to 35 days) response to therapy. Two mothers were treated intravenously and the fetus responded to therapy in less than 24 hours. Because of problems possibly related to poor absorption and/or rapid clearance of digoxin, the intravenous route of administration should be used as the best way to achieve adequate therapeutic levels in the fetus.     

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.     

Endocardial fibrosis and hydrops fetalis in a premature infant

We describe a premature neonate with endocardial fibrosis associated with hydrops fetalis. The infant did not have any other cardiac disorder and expired with congestive heart failure when five days old. Endocardial fibroelastosis has been previously described in neonates but is rare and is usually associated with other cardiac malformations. In only two previous reports was endocardial fibroelastosis associated with hydrops and in both of these cases there were also valvular deformities. We also discuss the possible significance of this association.     

Transplacental digoxin therapy for fetal atrial flutter with hydrops fetalis

Background

Without timely treatment, fetal atrial flutter (AF) could result in congestive heart failure, hydrops fetalis and even fetal demise.

Methods

Prenatal echocardiography was used to confirm AF and assess fetal cardiac function with cardiovascular profile score. Transplacental digoxin therapy was adopted, and the patient was followed up for 10 months.

Results

The healthy male baby was delivered with normal postnatal electrocardiogram and echocardiogram. Neither arrhythmia nor neurodevelopmental impairment was found during the follow-up.

Conclusion

Timely transplacental digoxin therapy can successfully treat fetal AF and allow the fetus to recover from AF associated fetal heart failure and hydrops fetalis prior to delivery.     

Significance of meconium during labour and its correlation with umbilical cord blood studies

Continuous intrapartum fetal heart rate (FHR) monitoring with external cardiotocograph, and umbilical cord blood acid base analysis was done in 210 patients. One hundred cases who had meconium stained liquor formed the study group and 110 cases who had clear liquor formed the control group. There was higher incidence of low Apgar score (0–7) at one minute in study group as compared to the control, but no significant difference was found in the Apgar score at five minutes. There was significantly higher incidence of low Apgar score (0–7) in neonates with thick meconium as compared to controls at one and five minutes. The frequency of abnormal fetal heart rate patterns in both the groups showed no significant variation. The duration of exposure to meconium had no influence on the fetal outcome. Appearance of meconium alone did not seem to be a definitive sign of fetal distress warranting immediate delivery, but thick meconium with ominous fetal heart rate pattern, was significantly predictive of fetal distress. Presence of meconium was found to be indication for intense fetal monitoring in labour.