Fetal Inferior Vena Cava Thrombosis Associated With Non-Immune Hydrops Fetalis and Maternal Mirror Syndrome.

Prenatal assessment of the inferior vena cava (IVC) should be considered in pregnancies with atypical presentations of fetal ascites and placentomegaly. We examine a case of a 25-year-old gravida 2 para 1 type 1 diabetic female at 29 and 4/7 weeks' gestation. Ultrasound (US) showed fetal ascites and placentomegaly with increased middle cerebral artery peak systolic velocity (MCA-PSV) suspicious of fetal anemia. Cordocentesis with intrauterine transfusion briefly resolved the fetal ascites, though the mother developed pulmonary edema and pleural effusion, suggestive of mirror syndrome. On US, fetal ascites returned and progressed to non-immune hydrops fetalis, prompting delivery. Neonatal US revealed a heterogenous and calcified thrombus within the IVC.

Prenatal Rupture of Hydrocolpos in a Cloacal Malformation.

INTRODUCTION: Cloacal dysgenesis occurs from failure of embryological division of urogenital sinus and hindgut, leading to a single common perineal opening for genitourinary and gastrointestinal tracts. The prenatal diagnosis of cloacal malformation is imprecise, but the clinical correlation of postnatal findings to prenatal history can help reveal explanations for unusual pathological findings in patients with urogenital abnormalities. CASE PRESENTATION: A 21-year-old woman was referred after her 20-week ultrasound demonstrated anhydramnios and concern for dilated fetal bowel. Fetal MRI confirmed anhydramnios and a dilated fetal colon, in addition to hydronephrosis and a pelvic cyst. Repeat ultrasound at 27 weeks showed unexpected complete resolution of her anhydramnios but new fetal ascites. The newborn girl was postnatally diagnosed with a cloacal malformation and an unusual near-complete fusion of her labia. She underwent proximal sigmoid colostomy and a tube vaginostomy at birth followed by cloacal reconstruction at 1.5 years old. CONCLUSION: In female fetus with a pelvic cyst, one should have a high index of suspicion for cloacal anomaly and consider the possibility of urinary obstruction leading to alteration in amniotic fluid.

Intrauterine Transmission of Hepatitis C Virus Concomitant with Isolated Severe Fetal Ascites.

BACKGROUND: Perinatal Hepatitis C Virus (HCV) transmission occurs in 4-7% of the cases with detectable viremia at delivery. HCV testing in pregnancy is recommended. The fetal infection was previously described as asymptomatic although there are two cases, including this one, to report the presence of isolated fetal ascites in HCV infected fetuses. CASE REPORT: A 42-year-old patient, 3G, 3P, presented in the Emergency Room for painful uterine contraction. The third-trimester ultrasound examination noted severe fetal ascites, accompanied by hyperechoic bowels and polyhydramnios. The diagnosis required a detailed ultrasound exam, invasive testing (amniocentesis, cordocentesis, and fetal paracentesis), and a complete workup. The mother tested positive for HCV antibodies, and the fetal cord blood tested positive for HCV RNA. The ascites resolved after paracentesis, and the gastrointestinal and respiratory functions markedly improved. The fetus was delivered at term in good condition. CONCLUSIONS: The etiology of isolated fetal ascites is broad. This case may indicate that intrauterine HCV transmission is a potential cause of isolated fetal ascites in the absence of other explanation, and isolated fetal ascites can be the only sign revealed on a routine examination. We suspected, having no other detected cause for ascites, the intrauterine transmission of HCV. Invasive procedures, such as paracentesis, are required for abdominal decompression to manage isolated fetal ascites, as it may be a saving procedure. A genetic investigation is needed, and a good neonatal outcome is expected in the absence of fetal structural or genetic abnormalities, as in our case.

Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.

We provide the first study of two siblings with a novel autosomal recessive LRP1-related syndrome identified by rapid genome sequencing and overlapping multiple genetic models. The patients presented with respiratory distress, congenital heart defects, hypotonia, dysmorphology, and unique findings, including corneal clouding and ascites. Both siblings had compound heterozygous damaging variants, c.11420G > C (p.Cys3807Ser) and c.12407T > G (p.Val4136Gly) in LRP1, in which segregation analysis helped dismiss additional variants of interest. LRP1 analysis using multiple human/mouse data sets reveals a correlation to patient phenotypes of Peters plus syndrome with additional severe cardiomyopathy and blood vessel development complications linked to neural crest cells.

Persistent cloaca with fetal ascites: clinical features and perinatal management.

PURPOSE: Fetuses with persistent cloaca are known to develop urine or meconium backflow into the abdominal cavity caused by obstruction of the common channel, thus leading to fetal peritonitis with fetal ascites. We analyzed the impact of prenatal fetal ascites on postnatal clinical features and management. METHODS: This retrospective single-center cohort study was conducted to compare the perinatal parameters of patients with isolated persistent cloaca who were born and treated at our hospital between 1991 and 2021. The clinical features and management of those with and without fetal ascites were compared. RESULTS: Among the 17 eligible patients, fetal ascites were recognized in seven. The occurrence of fetal ascites was significantly related to preterm birth, higher birth weight z-score, birth via emergency cesarean delivery, low Apgar scores at 1 min and 5 min, higher C-reactive protein levels at birth, longer duration of oxygen administration, the need for a urinary drainage catheter at initial discharge, and shorter neonatal hospital stays. CONCLUSIONS: The postnatal management of patients with persistent cloaca with fetal ascites differed significantly from that of patients without fetal ascites. For patients with unexplained fetal ascites, magnetic resonance imaging may be helpful for determining the definite diagnosis of persistent cloaca.

Isolated Fetal Ascites: Etiology and Prognosis - A 10-Year Experience from a Tertiary Referral Care Center in India.

INTRODUCTION: Isolated fetal ascites is an uncommon finding, and it may be difficult to elucidate the underlying pathology. This is more so when there are limited resources to investigate the patient adequately. This study was undertaken to see the etiology of isolated fetal ascites and analyze the outcomes. MATERIALS AND METHODS: Twenty-three cases of isolated fetal ascites were retrospectively analyzed from December 2007 to June 2018. All cases were investigated with detailed ultrasound with other investigations as required. Postnatal data included gestational age at birth, mode of delivery, weight, and postnatal outcome. RESULTS: The mean age at diagnosis was 26 gestational weeks. Structural abnormalities without any underlying chromosomal or genetic cause were identified in 10/23 (43.4%) cases with the most common structural abnormality related to the gastrointestinal tract where ultrasound proved to the most useful tool. The overall good prognosis was seen in 13/23 (56.5%) cases. CONCLUSION: Appropriate perinatal care, timely referral and delivery at tertiary care setup, and timely surgical intervention are measures which can improve the outcome and survival in fetuses diagnosed with isolated fetal ascites.

Wavy Floating Greater Omentum Findings Are Useful for Differentiating the Etiology of Fetal Ascites.

The greater omentum is an apron-like peritoneal mesothelial sheet that was described by ultrasound as a floating fluid-filled viscus in ascites during the fetal period. To examine the association between the etiology of fetal ascites and ultrasound findings of the greater omentum, a retrospective study was conducted. Ultrasound findings of fetal omentum were defined as follows: (1) a cyst-like shape with a thin membrane observed as wavy in the ascites, (2) beside the stomach and below the liver, and (3) no blood flow noted on color Doppler. Eleven pregnancies had fetal ascites. A fetal greater omentum was confirmed in eight cases in which ascites were caused by non-peritonitis: fetal hydrops (n = 4), congenital cytomegalovirus infection (n = 2), idiopathic chylous ascites (n = 1), and unknown cause (n = 1). Of these eight cases, no abdominal surgical management was required in three live babies. However, a fetal greater omentum was not confirmed in all three cases of meconium peritonitis. It was suggested that the finding of the greater omentum can be an important clue for estimating the pathophysiological etiology of fetal ascites and helping with postnatal management. It should be reasonable to add the finding of the greater omentum to the detailed ultrasound examination checklist.

Isolated Fetal Ascites: A Rare Cause.

A moderately preterm, 2.68 kg, male child was born to para 3 live 3 mother by Cesarean delivery done in view of preterm labor with fetal ascites. The baby had antenatally detected ascites. The baby had distended but soft abdomen. Ultrasound abdomen showed gross ascites. X-ray of the abdomen in supine showed faint lucency in the mid-abdomen region posterior to the bowel gas, which was visualized as free gas along the right half of the abdomen in lateral decubitus position, suggestive of bowel perforation. Laparotomy was done on day three of life, intraoperatively found to have perforated Meckel's diverticulum. Ascites resolved postoperatively. Isolated fetal ascites is a rare condition but has a favorable prognosis.

Unusual fetal ascites and spontaneous bladder rupture in a female fetus: a case report.

BACKGROUND: Fetal bladder rupture causing urinary ascites is uncommon. It is generally related to invasive fetal medicine procedures or obstructive disorders such as in posterior urethral valves in male fetuses. An exceptional case of spontaneous bladder rupture in a female fetus occurred in a pregnant woman treated with high doses of opiates in an intensive care unit. This unusual obstetric situation leads to discussion of the possible causes of fetal bladder rupture, its management, and the pediatric prognosis. CASE PRESENTATION: We report the case of a 30-year-old nulliparous black woman with a history of mesenteric cystic lymphangioma and multiple bowel resections leading to chronic malabsorption. During her pregnancy, our patient presented with an occlusive syndrome and major bilateral renal dilation. Urinary derivation resulted in iatrogenic bilateral ureteral perforation. Our patient thus presented with major uroperitoneum, bilateral pleural effusion and acute renal failure, treated by thoracic drainage and bilateral nephrostomy. Postoperative pain required treatment with level III analgesics. In this context, 5 days after morphine treatment introduction an enlarged fetal bladder was observed, followed 3 days later by voluminous fetal ascites. The diagnosis of spontaneous bladder rupture was suspected. After multidisciplinary discussion, expectant management was decided. At 31 weeks and 4 days gestation, our patient went into spontaneous labor with a subsequent vaginal delivery. The infant required resuscitation and paracentesis of ascites at birth. Her neonatal course was favorable with a simple urethral bladder drainage. Cystography at day 9 was normal. At 2 years of follow-up, the mother and the child have a normal course. CONCLUSIONS: An iatrogenic origin of megacystis in a female fetus must be evoked in the event of maternal administration of high doses of opiates in the second part of her pregnancy. In our case, the megacystis was followed by spontaneous bladder rupture at 30 weeks of gestation, with a favorable maternal fetal issue.

Fetal magnetic resonance imaging contributes to the diagnosis and treatment of meconium peritonitis.

BACKGROUND: Meconium peritonitis (MP) is a rare fetal disease that needs to be urgently identified for surgical intervention. We report a series of 35 patients diagnosed prenatally with MP by magnetic resonance imaging (MRI), illustrate the imaging findings and investigate the predictive value of these findings for postpartum management. METHOD: A consecutive cohort of patients diagnosed with MP who were born at our institution from 2013 to 2018 was enrolled retrospectively. The prenatal ultrasound and MRI findings were analyzed. Fisher's exact probability test was used to evaluate the predictive value of MRI for surgical intervention between the operative group and the nonoperative group. RESULTS: Ascites (30/35) and distended bowel loops (27/35) were two of the most common prenatal MP-related findings on fetal MRI. Of the 35 infants, 26 received surgical intervention. All fetuses with MRI scans showing bowel dilatation (14/26, p = 0.048) and micro-colorectum (13/26, p = 0.013) required surgery. There were no significant differences in the number of fetuses with meconium pseudocysts and peritoneal calcifications between the two groups. CONCLUSION: Fetuses with bowel dilatation and micro-colorectum on MRI may need postpartum surgical intervention. Infants with only a small amount of ascites and slight bowel distention were likely to receive conservative treatment.

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

BACKGROUND: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease. CASE PRESENTATION: A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age. CONCLUSIONS: We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.

A Rare Case of Fetal Meconium Peritonitis Developing Coagulopathy In utero.

Hydrops fetalis in association with meconium peritonitis is a rare condition, and the mechanism underlying hydropic changes has not been fully recognized. We present a case of fetal meconium peritonitis with hydrops and coagulopathy. Clinically, the cause of fetal disseminated intravascular coagulation is considered to be a consequence of a systematic inflammatory response based on progressive, but mild fetal anemia without other apparent triggers, thrombocytopenia, elevated white blood cell count and serum C reactive-protein, hypoalbuminemia, and increased vascular permeability. The infant was born at 32 weeks of gestation and survived after postnatal multidisciplinary treatment. Our experience suggests that recognition of this rare condition will enable early diagnosis and better clinical management for fetuses with meconium peritonitis.

Ascitis fetal: a propósito de un caso y revisión de la literatura / Fetal ascites: Apropos of a case and literature review

Fetal ascites is defined as the presence of intraperitoneal fluid that may be part of a generalized or isolated hydrops. The mortality of non-immune ascites, both fetal and neonatal, is approximately 60%. We present a case of fetal ascites not associated with hydrops and we review the pathogenesis, clinical features, diagnostic approach and treatment of this fetal and neonatal condition.

La ascitis fetal se define como la presencia de líquido intraperitoneal que puede ser parte de un hidrops generalizado o aislado. La mortalidad de la ascitis no inmune, tanto fetal como neonatal, es aproximadamente 60%. Se presenta un caso de ascitis fetal no asociada a hidrops y se revisa la patogenia, clínica y el enfoque diagnóstico y tratamiento de esta condición fetal y neonatal.

Isolated fetal ascites.

OBJECTIVE: We present a rather rare case of isolated fetal ascites. We summarize its possible causes and diferential diagnostic procedure, our pregnancy managment and final outcome of the child. STUDY DESIGN: Case report. SETTINGS: Gynekologicko-porodnická klinika, Masarykova nemocnice, Ústí nad Labem; Neonatologická klinika, Masarykova nemocnice, Ústí nad Labem. METHODS: The pacient 18-years-old, I/0, was admitted to our clinic in the 32nd week of pregnancy with the dia-gnosis of significant isolated fetal ascites. Gradually, the most common causes of isolated ascites were excluded by the examination algorithm: developmental defects of GIT, urogenital tract and heart defects, genetic disorders, metabolic defects and immune and nonimmune causes of fetal hydrops. During the hospitalization, ascites lightening puncture was performed twice because of the significant lung tissue compression - without significant long-term effect. At the gestational age of 33+4, caesa-rean delivery was indicated for extreme ascites growth and significant lung tissue relapse. A boy of 2150 g with a serious respiratory distress was born. Immediately after delivery in the operating theatre a relieving ascites puncture was performed and the ventilation parameters improved immediately thereafter. During the following hospitalization the ascites has spontaneously, completely and definitely resorbed. The newborn was released into home care 49 days after delivery. CONCLUSION: Idiopatic isolated fetal ascites is a relatively rare diagnosis with a favourable outcome. The etiology of ascites could not be identified.

Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report.

Isolated fetal ascites and cri-du-chat syndrome (CdCS; OMIM #123450) are two very rare conditions that, to our best knowledge, have never been reported together. Here, we describe a case of isolated fetal ascites detected in the first trimester ultrasound, with no other remarkable signs. After an extensive work-up (fetal ultrasound, serologies, Coombs test, and NIPT), an amniocentesis was performed and revealed an abnormal karyotype of 46,XX,del(5)(p15.2), characteristic of CdCS. We hypothesize that isolated fetal ascites has to be considered an antenatal ultrasonographic marker for CdCS, a finding that should be confirmed in further cases.

Prenatal imaging features suggestive of liver gestational allo immune disease.

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases. Splenomegaly was identified in one case. Other causes of NH have been ruled out during diagnostic workup including karyotype, detection of IGFBP-1 to evaluate a premature rupture of membranes, maternal serologic tests. MRI was performed in two cases and showed an atrophic liver associated with a low signal intensity on T2-sequence in one case. Prenatal NH was suspected in this later case and the fetus was successfully treated with two IVIG (intravenous immunoglobulins) perfusions performed during pregnancy followed by exchange transfusion and IVIG after birth. The child is doing well with normal liver function tests after 17 months of follow up. Our aim was to highlight the importance of suggesting NH-GALD when facing IUGR with oligohydramnios, ascites, placental hydrops, splenomegaly on prenatal ultrasound with negative work up for placental vascular pathologies and infectious fetopathies. MRI might be of a good help, showing an atrophic liver but enhancing iron overload in hepatic and extrahepatic tissue is helpful but not constant.

Retroperitoneal exploration with Vicryl mesh and fibrin tissue sealant for refractory chylous ascites.

BACKGROUND: Congenital chylous ascites poses a significant challenge in neonatal care, and often results in prolonged, complex hospital stays and increased mortality. Few effective options exist in refractory cases. METHODS: Patients aged 0 to 12 months with refractory chylous ascites underwent retroperitoneal exploration after medical treatment and minimally invasive therapies were unsuccessful. The retroperitoneum was completely exposed via left and right medial visceral rotation and opening the lesser sac. Visible leaks were ligated, and alternating layers of fibrin glue and Vicryl mesh were used to cover the entire retroperitoneum. RESULTS: All 4 patients had resolution of their chylous ascites. None required reoperation or reintervention for chyle leaks. All achieved goal enteral feeds at a median of 29 days postoperatively and were discharged from hospital at a median of 42 days postoperatively. CONCLUSIONS: Management of chylous ascites is extremely challenging in refractory cases. Complete retroperitoneal exposure with fibrin glue and Vicryl mesh application offers a definitive, reliable therapy for achieving cessation of lymphatic leakage and ultimate recovery for patients who fail all nonoperative approaches. STUDY TYPE: Therapeutic. LEVEL OF EVIDENCE: IV.

Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.

Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.

Ascitis fetal como forma de presentación de agenesia de la vena cava inferior / Fetal ascites as clinical presentation of inferior vena cava agenesis

La vena cava inferior (VCI) está constituida por tres segmentos de diferente origen embriológico. De su mala fusión, surge un amplio espectro de anomalías. La prevalencia de anomalías de la VCI es de 0,07-8,7% de la población. Generalmente, se diagnostica como hallazgo incidental en la vida adulta. Representa el 5-9,5% de las trombosis venosas profundas idiopáticas en menores de 30 años sin factores de riesgo asociados. Se presenta a una recién nacida a término con diagnóstico prenatal de ascitis en la semana 20 de gestación. Se diagnosticó, mediante angiotomografía abdominal, la agenesia de VCI. El tratamiento de pacientes con agenesia de la VCI se basa en el manejo de las complicaciones. Debido al mayor riesgo que presentan de sufrir un evento trombótico, se debe considerar la profilaxis antitrombótica a largo plazo. Se recomienda iniciar profilaxis anticoagulante en la pubertad.

Inferior Vena Cava (IVC) is composed of three segments from different embryological origin. Its lack of fusion originates a wide spectrum of anomalies of the IVC. These malformations are present in 0.07-8.7% of the population. It is generally diagnosed as an incidental finding in adult life. It represents between 5 and 9.5% of idiopathic deep vein thrombosis in patients younger than 30 years old without associated risk factors. We present a case of a term newborn with prenatal diagnosis of ascites during the 20th week of gestation. IVC Agenesis was diagnosed with the use of abdominal angiotomography. The treatment of patients with IVC Agenesis is based on the management of its complications. Due to the increased thrombotic risk of these patients, we should consider lifelong anticoagulation. We suggest initiating it during puberty.

[Fetal ascites as clinical presentation of inferior vena cava agenesis]. / Ascitis fetal como forma de presentación de agenesia de la vena cava inferior.

Inferior Vena Cava (IVC) is composed of three segments from different embryological origin. Its lack of fusion originates a wide spectrum of anomalies of the IVC. These malformations are present in 0.07-8.7% of the population. It is generally diagnosed as an incidental finding in adult life. It represents between 5 and 9.5% of idiopathic deep vein thrombosis in patients younger than 30 years old without associated risk factors. We present a case of a term newborn with prenatal diagnosis of ascites during the 20th week of gestation. IVC Agenesis was diagnosed with the use of abdominal angiotomography. The treatment of patients with IVC Agenesis is based on the management of its complications. Due to the increased thrombotic risk of these patients, we should consider lifelong anticoagulation. We suggest initiating it during puberty.

La vena cava inferior (VCI) está constituida por tres segmentos de diferente origen embriológico. De su mala fusión, surge un amplio espectro de anomalías. La prevalencia de anomalías de la VCI es de 0,07-8,7% de la población. Generalmente, se diagnostica como hallazgo incidental en la vida adulta. Representa el 5-9,5% de las trombosis venosas profundas idiopáticas en menores de 30 años sin factores de riesgo asociados. Se presenta a una recién nacida a término con diagnóstico prenatal de ascitis en la semana 20 de gestación. Se diagnosticó, mediante angiotomografía abdominal, la agenesia de VCI. El tratamiento de pacientes con agenesia de la VCI se basa en el manejo de las complicaciones. Debido al mayor riesgo que presentan de sufrir un evento trombótico, se debe considerar la profilaxis antitrombótica a largo plazo. Se recomienda iniciar profilaxis anticoagulante en la pubertad.