Prenatal diagnosis of left side congenital diaphragmatic hernia associated with gastric perforation.

OBJECTIVE: A congenital diaphragmatic hernia (CDH) complicated with gastric perforation is extremely rare. Herein, we report an unusual case of unexpected intrauterine gastric perforation of a left side CDH with concurrent pleural effusion and ascites. CASE REPORT: A 21-year-old female underwent prenatal ultrasound at 37 weeks of gestation and revealed a left side CDH, pleural effusion with a large thick-walled cystic mass over the left thorax, ascites, and polyhydramnios. Under the impression of CDH with suspected gastric perforation, Cesarean delivery was arranged and a male neonate was delivered. The neonate received emergency laparotomy soon and a herniation originated from the foramen of Bochdalek and a perforation located in the stomach body along the greater curvature were found. The pathologic diagnosis was consistent with a spontaneous gastric perforation with ischemic change. CONCLUSION: Sonographic findings of pleural effusion and ascites associated with CDH are clues of antenatal gastrointestinal perforation.

Langerhans cell histiocytosis: A rare aetiology for fetal pleural effusion.

OBJECTIVE: We present fetal pleural effusions associated with Langerhans cell histiocytosis (LCH). CASE REPORT: We report a case of fetal pleural effusion in late pregnancy. Due to developing rapidly over short period of time, the baby was delivered by caesarean section at 34 weeks gestation. Generalised oedema, sparse haemorrhagic papules, pulmonary involvement, mediastinal mass and liver dysfunction were identified postnatally. Structural malformations, maternal-fetal blood type incompatibility, chromosomal abnormalities and viral infection were excluded. Mediastinal mass biopsy and immunohistochemical examinations confirmed the diagnosis of Langerhans cell histiocytosis (LCH). The baby is currently in a stable condition and undergoing regular chemotherapy. CONCLUSIONS: Congenital LCH is a rare aetiology of fetal pleural effusions.

Primary fetal pleural effusion: Characteristics, outcomes, and the role of intervention.

BACKGROUND: We aimed to present the natural history and outcomes of fetal primary pleural effusions (PPE). METHODS: Fetuses with prenatal diagnosis of PPE delivered between January 2011 and June 2018 were included. Fetal PPE were separated into groups: resolved, stable, or progressive. Progressive PPE was diagnosed, using fetal echocardiography, by the new onset of fetal hydrops or impaired cardiac function. Data were reported as median [range] and n (%). RESULTS: Among 189 fetuses with antenatal diagnosis of pleural effusion, 30 had a PPE. A total of 26.7% (n = 8), 26.7% (n = 8), and 40.0% (n = 12) were classified as resolved, stable, and progressive, respectively; two were lost to follow-up. In 14 cases (50%), there were bilateral pleural effusions. Of the 12 cases in the progressive group, four (33.3%) had amnioreduction, six (50.0%) had thoracentesis, and eight (66.7%) had shunt placement performed. There were two fetal deaths, both in the progressive group, one of which received amnioreduction and the other underwent both thoracentesis and shunt placement prior to demise. CONCLUSION: In more than half of fetuses with prenatal PPE, the effusion remained stable or spontaneously resolved, and the perinatal outcomes were generally favorable. This information will be useful in optimizing the counseling and care of these patients.

Early 2D/3D ultrasound diagnosis of pleural effusion in fetuses with Turner syndrome.

Most guidelines on ultrasound examinations during pregnancy do not recommend routine early pregnancy scan in uncomplicated and asymptomatic pregnancies (ie, before 10 weeks based on last menstrual period). There is, however, a growing patient's expectation to have an early scan to confirm dating and verify the pregnancy is intrauterine and viable. We present three well-documented cases of patients who had an early (7-8 weeks) dating transvaginal scan revealing pleural effusion in the embryo. In all cases cytogenetic analysis confirmed monosomy for the X chromosome, consistent with a clinical diagnosis of Turner syndrome.

Thoracoscopy-assisted removal of a thoracoamniotic shunt double-basket catheter dislodged into the fetal thoracic cavity: report of three cases.

The indications for and timing of surgical removal of a dislodged thoracoamniotic shunt double-basket catheter are not established, and the side effects of the dislodged into the thoracic cavity remain controversial. The double-basket catheter was designed to reduce the incidence of catheter dislodgement; however, we have encountered four cases of thoracoamniotic shunt double-basket catheter dislodgement into the fetal thorax. The dislodged shunt catheters were removed safely with thoracoscopic assistance within several days of birth, when additional treatments for pleural effusion were needed, such as thoracic drainage tube insertion and adhesion treatment of the thorax. We report the clinical courses of three of these cases of thoracoamniotic shunt tube dislocation. By waiting several days postnatally for stabilization of respiratory and circulatory status and the effective use of thoracoscopic assistance, the dislodged catheter was safely removed from the neonatal thorax. The accumulation of case reports will help establish suitable treatments, and their indication, for a dislodged thoracoamniotic shunt catheter within the fetal thoracic cavity.

In utero incarceration of congenital diaphragmatic hernia.

In utero diagnosis of incarcerated congenital diaphragmatic hernia has never been reported. In our case, congenital diaphragmatic hernia presented at 34 weeks of gestation with dilated bowel loops, pleural effusion, and ascites on fetal ultrasound. Preterm delivery and emergency exploration revealed a tight posterolateral diaphragmatic defect with extensive bowel infarction.

Proinflammatory macrophage migratory inhibition factor and interleukin-6 are concentrated in pleural effusion of human fetuses with prenatal chylothorax.

OBJECTIVES: To study the role of selected cytokines and growth factors involved in the pathogenesis of fetal chylous pleural effusion. METHODS: Seventeen fetuses with prenatal chylothorax at gestational age (GA) 17-29 weeks were enrolled as the study group during the period 2003-2005. Their pleural effusion (n = 17) and amniotic fluid (n = 17) were drawn when disease set in. Eleven fetuses received cordocentesis because of suspected fetal anemia. Forty-one normal fetuses without adverse perinatal outcome at GA 17-29 weeks received amniocentesis and were enrolled in the reference group. Levels of hepatocyte growth factor (HGF), stromal-derived factor-1(SDF-1), vascular endothelial growth factor (VEGF), interleukin-8 (IL-8), macrophage migratory inhibition factor (MIF), and interleukin-6 (IL-6) were determined in the samples from both groups (amniotic fluid, pleural fluid, and cord blood from the study group and amniotic fluid from the reference group) by enzyme-linked immunoassay (EIA). RESULTS: No significant differences were observed in the amniotic fluids between the study group and the reference group regarding levels of IL-6, IL-8, MIF, SDF-1, HGF and VEGF. In the study group, levels of IL-8, VEGF and SDF-1 (all pro-angiogenic) showed no significant differences between the amniotic fluid, cord blood and pleural effusion. The level of HGF (proangiogenic) was significantly higher in the amniotic fluid than in the cord blood or the pleural effusion, but there were no significant differences between the levels in the pleural fluid and in the cord blood. Interestingly, the levels of MIF and IL-6 (both are proinflammatory) in the amniotic fluid and in the pleural effusion were much higher than the levels in the cord blood. CONCLUSION: Our study demonstrated that the levels of pro-inflammatory proteins (MIF and IL-6) that we tested were higher in the fetal pleural effusion than in the fetal circulation, a phenomenon not observed in the levels of proangiogenic proteins (HGF, SDF-1, VEGF, IL-8). This result implies that inflammation-related proteins may be more relevant than the angiogenesis-related proteins in the local environment of accumulating pleural effusion, a prominent feature of prenatal chylothorax.

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.

Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital edema of the lower limbs, usually bilaterally and below the knees, sometimes associated with cellulitis, prominent veins, papillomatosis, upturned toenails, and hydrocele. In this study, we report the first de novo VEGFR3 mutation in a patient with sporadic congenital lymphedema. We also describe three other families with a VEGFR3 mutation. In each family, one individual had an atypical clinical presentation of hereditary lymphedema type I, whereas the others had the classical VEGFR3 mutation-caused phenotype. The atypical presentations included pre-natal pleural effusion, spontaneous resorption of lymphedema and elephantiasis. Three of the four identified mutations were novel. These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema. This has implications for follow-up care, as such individuals have nearly a 50% risk for occurrence of lymphedema in their children. Our findings also indicate that although most patients with a VEGFR3 mutation have the well-defined phenotype for hereditary lymphedema type I, there are exceptions that should be considered in genetic counseling. Because VEGFR3 mutation can cause generalized lymphatic dysfunction and can thus result in hydrops fetalis, VEGFR3 screening should be added to the investigation of cases of hydrops fetalis of an unknown etiology.

Congenital pulmonary lymphangiectasis sequence: a rare, heterogeneous, and lethal etiology for prenatal pleural effusion.

OBJECTIVE: Case report and literature review for congenital pulmonary lymphangiectasis (CPL) CASE REPORT: Male fetus with bilateral pleural effusion, thoracoamniotic shunt, preterm delivery, and prolonged neonatal course with neonatal death at 3 months. Autopsy-identified CPL. DISCUSSION: Review of pathology, clinical course, and genetics of CPL. CONCLUSION: This postnatal diagnosis of CPL/Hennekam syndrome must be considered with prenatal counseling regarding a fetus with bilateral pleural effusions. This pathological entity is autosomal recessive and has a significant risk of lethality.

Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.

Prenatal molecular genetic diagnosis for Noonan syndrome I is reported. Noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). DNA was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG). Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus. Prenatal ultrasound findings in Noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype Noonan syndrome should be considered and DNA testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in Noonan syndrome seem to be more frequent than usually anticipated.

Chest wall mesenchymal hamartoma associated with a massive fetal pleural effusion: a case report.

Abstract We report on an extremely rare chest wall mesenchymal hamartoma associated with a massive fetal pleural effusion. Prenatal ultrasound examination demonstrated a heterogeneous mass in the right thorax associated with a massive pleural effusion and right lung compression at 29 weeks of gestation. The patient underwent pleuroamniotic shunting at 30 weeks and was delivered at 33 weeks by cesarean delivery secondary to fetal distress. After management of the respiratory distress and evaluation of the mass, surgery was performed at day of life 8. Histological examination confirmed the diagnosis of a chest wall mesenchymal hamartoma.

Outcome of fetal pleural effusions treated by thoracoamniotic shunting.

OBJECTIVE: Fetal pleural effusions are uncommon, and treatment options for moderate or severe effusions include drainage and thoracoamniotic shunting. However, relatively few records of effusions treated by thoracoamniotic shunting are available in the literature, so our objective was to study the outcome after thoracoamniotic shunting in our unit. METHODS: We searched the database of our tertiary fetal medicine unit for all cases of fetal pleural effusion treated by thoracoamniotic shunting between 1997 and 2003 inclusive, and studied the maternal and neonatal records. RESULTS: Ninety-two cases of fetal pleural effusion were studied, of which 21 had undergone a thoracoamniotic shunt. Sixteen of these 21 fetuses (76%) had associated hydrops, of which seven (44%) survived and, of the five (24%) without associated hydrops, three (60%) survived. There were two procedure-related losses. No shunted cases were associated with abnormal karyotype or proven maternal infection, but it is probable that three cases had been caused by an underlying genetic syndrome. CONCLUSION: The survival of fetuses with severe pleural effusions after thoracoamniotic shunting in this study was 48%.

[Propofol anesthesia for fetal sedation].

We were requested to reduce neonatal respiratory effort at delivery in anesthetic management for Cesarean section. A 26-year-old pregnant woman was suspected through abdominal ultrasound examination and amniotic fluid test, of her baby having immature lungs associated with remarkable pleural effusion. Lungs could be damaged by respiratory effort after delivery, and respiratory management immediately after delivery was planned. Anesthesia was induced with propofol and fentanyl 300 micrograms. Propofol was administered with a target controlled infusion setting with the target blood concentration of 10 micrograms.ml-1. Fetal electrocardiogram was monitored for detecting fetal sedation. The concentrations of propofol at delivery were 10.7 and 4.1 micrograms.ml-1 in maternal arterial and umbilical venous blood, respectively, and the baby was apneic. Respiration of the baby was managed with a high frequency jet ventilation mode, and 160 ml of pleural effusion was aspirated immediately after the delivery. The baby was discharged from the hospital 5 weeks afterward.

Pregnancy outcome of embryonic/fetal pleural effusion in the first trimester.

OBJECTIVE: To investigate the incidence of embryonic/fetal pleural effusion in the first trimester and its pregnancy outcome. METHODS: A total of 965 viable singleton pregnancies confirmed by sonography between 7 and 10 weeks were examined to estimate the incidence of embryonic/fetal pleural effusion. When initial transvaginal sonography showed pleural effusion, serial ultrasound examinations were performed. RESULTS: Pleural effusion was detected in 12 pregnancies (incidence, 1.2%; 95% confidence interval, 0.7-2.2), which involved bilateral thoracic cavities in all cases. The pregnancy outcome was assessed among 14 cases of pleural effusion, including 2 previously reported cases from the same institution. Among these, 12 pregnancies (86%) miscarried by 14 weeks' gestation. Karyotype was abnormal in 9 (82%) of 11 cases in which chromosomal analysis was successfully performed. Of these, 6 (67%) were 45,X. CONCLUSIONS: The results suggested that embryonic/fetal pleural effusion in early pregnancy was associated with poor pregnancy outcome such as spontaneous abortion and chromosomal abnormality.

A case of successful fetal therapy for congenital chylothorax by intrapleural injection of OK-432.

A 38-year-old multiparous woman was referred at 19 weeks' gestation because of hydrops fetalis. Ultrasonic examination revealed severe pleural effusion, ascites and skin edema. Detailed examination of the amniotic fluid, fetal blood and intrathoracic fluid led to a diagnosis of congenital fetal chylothorax. Repeated thoracocenteses were not effective in improving the hydrops fetalis. We introduced fetal treatment for the pleural effusion by an intrapleural injection of OK-432 at 23, 24 and 25 weeks' gestation. The pleural effusion was reduced by adhesion of the intrathoracic space and resulted in the delivery of a neonate who was healthy except for right renal dysfunction. Pulmonary hypoplasia was successfully prevented by OK-432.

Severe hypoproteinemia in a fetus after pleuro-amniotic shunts with double-basket catheters for treatment of chylothorax.

The prognosis of a fetus with hydrothorax at mid-trimester is extremely poor. We encountered a fetus who developed bilateral chylothoraxes at 23 weeks of gestation. Bilateral pleuroamniotic shunts with double-basket catheters were successfully installed at 25 weeks of gestation. Hydrothorax did not recur in this fetus. After the shunting, however, polyhydroamnios, fetal hypoproteinemia, and placental edema developed, and the hydrops worsened. The drainage of the fetal pleural effusion into the amniotic cavity was believed to have contributed to these complications. The infant, born at 29 weeks of gestation, died of cardiac failure and pulmonary hypoplasia. Thus, the shunts did not ameliorate the adverse conditions in this patient.

Intrapartum drainage of fetal pleural effusion.

Our objective was to describe our experience with intrapartum thoracocentesis in fetuses with severe bilateral pleural effusion. We describe the outcome of four consecutive cases of fetal pleural effusion due to chylothorax that were managed by intrapartum thoracocentesis. These fetuses were not candidates for pleuro-amniotic shunting either because of the need for prompt delivery (three fetuses) or because of advanced gestational age (one fetus). Thoracocentesis was performed in the operating theatre under ultrasound guidance prior to Caesarean delivery. Gestational age at the time of diagnosis and thoracocentesis ranged between 26-34 weeks and 31-34 weeks respectively. Bilateral thoracocentesis was performed in two fetuses and unilateral in the remaining two fetuses. All four infants were born in a relatively good condition; however, all eventually required intubation, ventilation and chest tubes. Chest tubes were introduced between 2 h and 5 days after delivery in three infants, and immediately after birth in one infant who was hydropic. Two infants survived and are developing normally. One infant died from sepsis following successful pleurodesis and one from aspiration on day 51. Our conclusions are that intrapartum thoracocentesis seems to be a relatively simple procedure, that allows newborns with pleural effusion, to breathe spontaneously or be more easily ventilated. This in turn, reduces the need to introduce chest tubes in an emergency situation.