Search

Congenital volvulus is a life-threatening condition, both for the fetus and for the newborn. A volvulus is a twist of small bowel loops or a proximal part of the colon around the mesenteric artery or its branches. The potential consequences of volvulus are ileus and necrosis of the intestinal wall. Prenatal diagnosis of midgut volvulus is difficult. It should be suspected antenatally when polyhydramnios, intestinal dilatation, ascites and/or signs of fetal anemia are present on ultrasound assessment. We report a case of a congenital midgut volvulus associated with fetal anemia. The fetal ultrasound performed at 32 weeks' gestation showed a polyhydramnios, hydrothorax, thick ascites accumulation around the liver and the suspicion of a dilated bowel loop. Additionally, Doppler examination showed an increased value of peak systolic velocity in the middle cerebral artery. Cordocentesis confirmed significant fetal anemia. At 34 weeks, because of the suspicion of idiopathic meconium ileus and secondary anemia, a Cesarean section was performed after the administration of steroids. During the laparatomy, performed postnatally, a midgut volvulus was diagnosed. The affected portion of the ileum was resected and end-to-end anastomosis performed. An antenatal diagnosis of midgut volvulus should be considered when signs of fetal anemia, including an increased value of peak systolic velocity in the middle cerebral artery, are present with polyhydramnios, fetal ascites, dilated bowel loops on antenatal ultrasound. An assessment of the fetal hemodynamic status should be a part of the ultrasound assessment for patients with nonspecific fetal bowel pathologies, including congenital volvulus., (Copyright (c) 2010 S. Karger AG, Basel.)

Prenatal diagnosis of generalized arterial calcification of infancy (GACI) (OMIM #208000) is difficult and rare. There are various known gene mutations in ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) locus 6q22-q23. We present a case of suspected intrauterine diagnosis at 29 weeks of gestation in a consanguineous couple. The sonographic findings were fetal hydrops (hydrothorax, skin edema, ascites, pericardial effusion and polyhydramnion), echogenic great arteries and pathological Doppler findings. An intrauterine therapy with bisphosphonates was considered, but delayed due to rapid deterioration in fetal Doppler flows with suspected fetal asphyxia. The couple was informed about the most unfavorable prognosis in fetal hydrops, however, they opted for elective delivery. A cesarean section was performed. Early neonatal death occurred due to primary intracranial hemorrhage. Postmortem and genetic testing confirmed a novel mutation in the ENPP1 gene., (Copyright (c) 2009 S. Karger AG, Basel.)

Background: Primary fetal pleural effusion can be associated with high perinatal morbidity and mortality, especially when it is associated with the presence of fetal hydrops. Pleuroamniotic shunting results in effective drainage and lung expansion which prolong the pregnancy and improve neonatal survival. Intrathoracic displacement of the shunt is a rare but a known complication of shunt insertion and can cause some infant morbidity. We present a case of successful antenatal treatment of primary fetal pleural effusion complicated with intrathoracic displacement of the shunt without any fetal and long-term infant morbidity., Case Report: Our case presented with severe bilateral fetal pleural effusion, causing fetal hydrops treated successfully by pleuroamniotic shunting at 25 weeks of gestation which was complicated by dislodgement of the shunt into the fetal chest documented by antenatal ultrasound at 30 weeks. There was no recurrence of fetal pleural effusion or other antenatal complication. After delivery there were no postnatal complications, so removal of the shunt was not considered, and clinical follow-up of the infant to the age of 12 months was uneventful., Conclusion: The complication of intrathoracic displacement of a pleuroamniotic shunt can be recognized antenatally by ultrasound. Since there are no postnatal pulmonary complications related to the presence of the shunt inside the infant chest, conservative management in these cases appears to be a safe approach., ((c) 2009 S. Karger AG, Basel.)

Objective: To investigate the prognostic factors for primitive fetal hydrothorax (PFHT) and propose a clinical strategy based on systematic literature review., Methods: We reviewed 64 articles describing 204 cases of PFHT. For each case we focused on 11 criteria. We investigated prognostic factors in the 89 cases where no in utero treatment was undertaken. We also studied the impact of different in utero treatments on the evolution of PFHT., Results: We have found 4 factors correlated with the course of PFHT: the presence of hydrops, gestational age at time of birth, the unilateral or bilateral nature of the effusion, and the occurrence of spontaneous resolution. With multivariate analysis, only hydrops remained determinant as a prognostic factor., Conclusions: Studies such as ours, reviewing case reports or series, are subject to the biases of literature underreporting of therapeutic failures or nonintervention. However (with the best available data) we propose a clinical approach to PFHT discovered in utero.

Internalization of a pleuroamniotic shunt previously has not been associated with significant fetal or neonatal problems. We report a case in whom the shunt internalized and compressed the lung hilum. A review of the complications of antenatal pleuroamniotic shunting is also presented.

The management of fetal hydrops in the second trimester is changing as the underlying etiologies are better understood. We report a case which was diagnosed at 18 weeks gestation. There was no underlying anatomical abnormality. Fetal blood sampling confirmed a normal karyotype and there was no evidence of fetal infection. Bilateral thoracocentesis and paracentesis caused temporary improvement of the fetal condition but subsequent fluid reaccumulation was noted within the left pleural cavity. A pleuroamniotic shunt inserted at 22 weeks caused permanent resolution of the hydrops. The infant was normal at 1-year follow-up.