1/72. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/72. Dypiridamole, a cGMP phosphodiesterase inhibitor, transiently improves the response to inhaled nitric oxide in two newborns with congenital diaphragmatic hernia.INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a frustrating cause of respiratory failure associated with persistent pulmonary hypertension of the newborn (PPHN). Although inhaled nitric oxide (iNO) is effective in many infants with PPHN, it often fails to improve oxygenation in infants with CDH. As the increase in vascular smooth muscle cyclic guanosine monophosphate (cGMP) in response to iNO may be impeded by increased phosphodiesterase type-V (PDE-V) activity, it has been suggested that PDE-V blockade potentiates the efficiency of iNO. case reports: We used dypiridamole (Persantine), a specific PDE-V inhibitor, in two patients with CDH. prenatal diagnosis showed a left-sided CDH at 23 weeks of gestation (GA) with intrathoracic stomach and left heart underdevelopment in the one infant and a right-sided CDH at 26 weeks GA with intrathoracic liver in the other. After antenatal corticoids, planned delivery was performed by the vaginal route at 38 weeks GA. Preoperative stabilization was achieved by high frequency oscillation, iNO and inotropic support over 24 h. Both had early pneumothorax drained by a chest tube. Despite optimization of ventilatory and hemodynamic support with surfactant replacement, iNO and adrenaline, oxygenation worsened progressively. Dypiridamole was introduced intravenously at 27 and 40 h, respectively, and improved oxygenation over the next 12 h. However, oxygenation again deteriorated and both patients died. CONCLUSION: Dypiridamole enhanced the response to iNO in PPHN associated with CDH, although this effect was transient. Combined therapy of iNO with PDE-V inhibitors may improve pulmonary vasodilation in some forms of PPHN which do not respond to iNO, thereby reducing the need for extracorporeal membrane oxygenation (ECMO) and improving outcome.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
3/72. phenobarbital dosing and pharmacokinetics in a neonate receiving extracorporeal membrane oxygenation.OBJECTIVE: To describe the dosing and pharmacokinetics of phenobarbital in a neonate receiving extracorporeal membrane oxygenation (ECMO). CASE SUMMARY: The treatment of a 2.6 kg, 38-week gestational age boy with congenital diaphragmatic hernia who developed seizures while receiving ECMO support is described. A loading dose of 20 mg/kg resulted in concentrations of 16.4 and 12.9 micrograms/mL at 3 and 24 hours, respectively. A maintenance dose of 5 mg/kg/d provided a peak concentration of 19.7 micrograms/mL and trough concentration of 16.7 micrograms/mL after four doses. The calculated volume of distribution was 1.2 L/kg and the estimated elimination half-life was 92 hours. serum concentrations decreased after circuit changes unless the new circuit was redosed. DISCUSSION: The reported incidence of seizures in neonates while receiving ECMO support is 18%. Despite this frequency, there are no clinical reports describing anticonvulsant use in this population. This case demonstrates the use of standard phenobarbital doses to achieve low, but therapeutic, serum concentrations. Pharmacokinetic analysis revealed a volume of distribution slightly larger than expected in neonates and an elimination half-life similar to published values. Altering circulating blood volumes resulted in significant reductions in serum concentrations. CONCLUSIONS: Neonates on ECMO may have a larger volume of distribution than neonates not receiving ECMO and may require larger phenobarbital doses to achieve desired serum concentrations. This may result from the presence of large exogenous blood volumes for priming, as well as loss of drug during circuit changes, extraction by the circuit, or hemofiltration. Further work is needed to better define the pharmacokinetics and pharmacodynamics of phenobarbital in the neonatal ECMO population.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/72. intubation of newborn during delivery with intact umbilical cord--a case report.A 24-year-old gravida 2, para 1 woman at 38th week gestation was scheduled for elective cesarean section (C/S) because of a previous C/S and prenatal diagnosis of congenital diaphragmatic hernia. We decided to intubate the newborn during delivery before the umbilical cord was cut. After delivery of the fetal head and part of the shoulders, the mouth of the fetus was cleared and the trachea was intubated orally with a 2.5 mm internal diameter (I.D.) endotracheal tube under sterile conditions while the uteroplacental circulation was still intact. The patient had to be repeatedly resuscitated due to bradycardia in intensive care unit. No surgical correction of the hernia was attempted because of the poor condition of the baby, which died 3.5 hours after birth. Although our case ended up in mortality despite successful perinatal intubation, we recommend that in case where airway or ventilatory problems are anticipated, tracheal intubation is done during delivery before the umbilical cord is clamped. When the fetus is sharing the maternal circulation, it will allow physicians to have more time and safety to perform corrective measures.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
5/72. Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
6/72. Congenital diaphragmatic hernia in identical twins.The authors present a pair of identical twins with congenital diaphragmatic hernia (CDH) diagnosed prenatally, who underwent successful surgical repair. They were diagnosed as having CDH at 32 weeks' gestation and showed respiratory distress soon after cesarean section at 33 weeks' gestation. Both survived after scheduled perinatal management followed by surgery, for which the prenatal diagnosis of CDH was valuable.- - - - - - - - - - ranking = 2keywords = gestation (Clic here for more details about this article) |
7/72. Prospective ultrasound diagnosis of Pallister-Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile.The Pallister-Killian syndrome (PKS) represents a rare polymalformative complex characterized by a tissue-specific mosaic distribution of an additional isochromosome 12p and characterized by diaphragmatic hernia, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia. Since diaphragmatic hernia and acral hypoplasia can be also found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH. prenatal diagnosis of PKS has been reported in cases submitted to karyotyping due to advanced maternal age or congenital anomalies detected on second trimester ultrasound. Among the ultrasound-detected malformations, little attention has been paid to facial anomalies. We describe a case in which PKS was prospectively suspected on the basis of the various anomalies detected at ultrasound, namely diaphragmatic hernia, rhizomelic limb shortening, and abnormal facial profile. The diagnosis was then confirmed by FISH on amniocytes and peripheral lymphocytes. In the present case, the disclosure of typical facial abnormalities significantly contributed to the differentiation between PKS and Fryns syndrome.- - - - - - - - - - ranking = 0.8627404647278keywords = pregnancy (Clic here for more details about this article) |
8/72. Ocular findings in Fryns syndrome.PURPOSE: To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia. methods: Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown. RESULTS: An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found. CONCLUSION: Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
9/72. color Doppler ultrasonography of the superior mesenteric artery for prenatal ultrasonographic diagnosis of a left-sided congenital diaphragmatic hernia.The incidence of congenital diaphragmatic hernia (CDH) has been estimated as 1 per 2000 to 1 per 4000 births. The etiology of the malformation is unknown, but it has been reported in association with maternal administration of medications such as thalidomide or antiepileptics before closure of the pleuroperitoneal canal at 9 to 10 weeks' gestation as well as having a familial inheritance pattern. Congenital diaphragmatic hernia is associated with other congenital anomalies in 25% to 57% of cases and with chromosomal abnormalities in 10% to 20% of cases. Posterolateral, anterolateral, and pars sternalis defects of closure of the pleuroperitoneal canal encompass the 3 types of CDH. The most frequent type is the left-sided posterolateral defect or Bochdalek's hernia, which accounts for 81% of cases.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
10/72. prenatal diagnosis of congenital diaphragmatic eventration by magnetic resonance imaging.diaphragmatic eventration is a rare abnormality, which has the similar ultrasonographic features to congenital diaphragmatic hernia. Therefore, these two diseases are difficult to differentiate from each other prenatally. We present here a case in which the presence of congenital diaphragmatic eventration was strongly suggested by magnetic resonance imaging (MRI) and ultrasonography. A 26-year-old pregnancy woman, gravida 0, para 0, week 35, was admitted to our hospital with an ultrasonographic abnormality of the fetal thorax. MRI and ultrasonography showed interesting features which strongly suggested the presence of congenital diaphragmatic eventration and helped to differentiate it from congenital diaphragmatic hernia.- - - - - - - - - - ranking = 0.21568511618195keywords = pregnancy (Clic here for more details about this article) |
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