1/159. Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. methods: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. CONCLUSIONS: Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/159. prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.We report the first case of prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome, OMIM 225753. Ultrasound findings noted at 28 weeks' gestation included polyhydramnios, a small stomach bubble, a small but morphologically normal cerebellum, dilatation of the fourth ventricle, and long periods of normal fetal movement punctuated by sudden bursts of violent seizure-like activity of the fetal extremities. At birth, the child was noted to be hypertonic, myoclonic, hyper-reflexic, demonstrated poor gastrointestinal motility, and had severe apneic episodes. magnetic resonance imaging (MRI) demonstrated marked hypoplasia or atrophy of the cerebellum, pons and medulla, mild atrophy of the cerebral cortex, and mild ex vacuo venticulomegaly of the fourth, third and lateral ventricles. This child died from respiratory insufficiency at 14 days of age. The parents of this child had previously lost a child with similar clinical and anatomical findings. Prenatal sonographers should be aware of the existence of this rare syndrome and should look carefully at the size of the cerebellum in cases of polyhydramnios or when in utero 'seizure-like' activity is seen. The importance of establishing this diagnosis lies in the fact that it appears to have a very poor postnatal prognosis and is likely to be inherited as an autosomal recessive disease.- - - - - - - - - - ranking = 0.82826673328794keywords = gestation (Clic here for more details about this article) |
3/159. Rapid development of hydrops fetalis in the donor twin following death of the recipient twin in twin-twin transfusion syndrome.Intrauterine death of one fetus in monochorionic twinning is associated with high rates of perinatal morbidity and mortality in the surviving fetus. Subsequent development of hydrops fetalis in the donor twin after fetal demise of the recipient twin has been described in only two case reports and pathophysiology remains unclear. We report on a monochorionic-diamniotic twin pregnancy complicated by severe twin-twin transfusion syndrome. Ultrasound examination at 20 weeks of gestation showed discrepant twins with oligohydramnios in the smaller twins' sac and polyhydramnios in that of the larger twin. Repeated amniocenteses permitted prolongation of the pregnancy. However, the recipient twin developed deteriorating hydrops fetalis and died at 28 weeks of gestation. After this event, subsequent development of hydrops fetalis in the surviving donor twin could be observed, as well as an increase of amniotic fluid. An elective cesarean section was performed at 29 weeks of gestation. Initial hypoxemia could be effectively treated by high frequency oscillatory ventilation, surfactant therapy and inotropic support. The infant was discharged in good condition at the age of 2 months. Although rare, antenatal demise of the recipient twin in a monochorionic pregnancy can be associated with the subsequent development of hydrops fetalis in the surviving donor twin. We speculate that this phenomenon is due to ischemia-reperfusion injury of the previously poorly perfused twin.- - - - - - - - - - ranking = 3keywords = gestation, pregnancy (Clic here for more details about this article) |
4/159. prenatal diagnosis of a benign facial tumor.We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh which made us call it 'Ramses' sign' as a future mnemonic aid to sonographers.- - - - - - - - - - ranking = 0.17173326671206keywords = pregnancy (Clic here for more details about this article) |
5/159. dialysis and pregnancy--a case report and review of the literature.We report on a patient with an eight-year history on maintenance hemodialysis treatment without residual renal function in whom pregnancy was successfully managed through to the 29th week. During this time, under carefully modified dialysis treatment, the nephrologic course, as well as materno-fetal flow relationships were unremarkable. fetal development was appropriate for gestational age. However, pregnancy was complicated by polyhydramnios, which necessitated i.v. tocolysis. In the 28 6th week of gestation, cesarean section was performed because of an antibiotic-resistant fever of unclear origin which ceased within two days of delivery. Although the postnatal course of the adequately developed baby was complicated by the respiratory distress syndrome, normal development continued. We emphasize that the intensive interdisciplinary cooperation of nephrologists and obstetricians is imperative for the successful management of pregnancy under these conditions. In these pregnancies, the main fetal problems consist of premature labor because of polyhydramnios, preterm delivery, intrauterine growth retardation and stillbirth. The mother is threatened by the development of superimposed pre-eclampsia, left ventricular failure because of volume overload and progressive anemia. In order to maintain a well-balanced homeostasis, intensification of dialysis therapy by an increase in frequency and duration is the most important therapeutic approach. Accurate fetal monitoring including frequent examination of the feto-maternal circulation by Doppler sonography as well as attentive surveillance of the mother is required to recognize the above mentioned complications.- - - - - - - - - - ranking = 2.8586663335603keywords = gestation, pregnancy (Clic here for more details about this article) |
6/159. Amnioreduction: how much to drain?OBJECTIVES: To assess the relationship between the volume of amniotic fluid removed and the change in amniotic fluid index (AFI) and calculate an equation describing this association. MATERIALS AND methods: A retrospective analysis of 19 amnioreduction procedures performed in our unit. Multiple regression analysis was used to assess the effect of gestational age and pre-procedure AFI on the change in AFI (DeltaAFI) after adjusting for the volume removed. RESULTS: As expected, a significant linear relationship was found between the change in AFI and the volume removed (r = 0.82, n = 19, p < 0.0001). DeltaAFI was not dependent on the gestational age or the pre-procedure AFI. The equation describing the association between the volume removed and DeltaAFI was: volume = (DeltaAFI - 2. 26)/0.008, which is close to 1 cm DeltaAFI for every 100 ml removed. DISCUSSION: Using the described equation, it is possible to predict the required volume to be removed in order to achieve a particular DeltaAFI, which may reduce the need to interrupt the procedure to measure the AFI. However, the limitation of AFI as a semiquantitative assessment of the liquor volume, together with its inter- and intra-observer variations mean this equation should be used only as a guide.- - - - - - - - - - ranking = 1.6565334665759keywords = gestation (Clic here for more details about this article) |
7/159. Intrauterine sling: a complication of the stuck twin syndrome.Stuck twin syndrome usually presents with polyhydramnios in the recipient sac and severe oligohydramnios in the donor sac. The donor is displaced against the uterine wall and remains adherent in that position. We present a case in which the diagnosis was more complicated, owing to the suspension of the stuck twin by a sling within the sac of the recipient. A monochorionic diamnionic twin gestation was complicated by twin-twin transfusion syndrome at 18 weeks of gestation. In our example, the stuck twin was suspended by a sling from the placenta. The sling band represented the intertwin membrane that was folded upon itself. amniotic fluid from the recipient twin was present in three dimensions around the stuck twin, except for the sling band. The suspension of the stuck twin by a sling within the amniotic fluid of the recipient is an unusual manifestation of the stuck twin syndrome.- - - - - - - - - - ranking = 1.6565334665759keywords = gestation (Clic here for more details about this article) |
8/159. Agenesis of the ductus venosus and its correlation to hydrops fetalis.Absence of the ductus venosus is a rare vascular anomaly. We report a late onset of a hydrops fetalis seen in a fetus at 34 completed weeks of gestation. A persistence of the cranial parts of the left and right umbilical veins and of the paired cranial vitelline veins with an absent ductus venosus led to a bilateral hydrothorax, ascites and skin-edema. Postnatally the hydrops resolved within 7 days most probably due to the change from the fetal to the adult circulation. The abnormal venous system was confirmed by angiography. Agenesis of the ductus venosus can manifest in two different morphologic patterns: The umbilical vein drains exclusively into the left branch of the intrahepatic portal vein or the umbilical vein drains into the inferior vena cava or directly into the right atrium by-passing the liver completely. In both patterns, the preferential direction of the flow towards the foramen ovale is not present. While the first pattern leads to hyperperfusion of the liver parenchyma, the latter would result in reduced perfusion and oxygenation. Our findings suggest that agenesis of ductus venosus might induce hydrops fetalis. We conclude, that in every case of hydrops fetalis the venous system should be evaluated by ultrasonography prenatally and/or immediately postnatally.- - - - - - - - - - ranking = 0.82826673328794keywords = gestation (Clic here for more details about this article) |
9/159. Prenatal ultrasound of regional akinesia with Pena-Shokier phenotype.This report describes sonographic features of the Pena-Shokeir phenotype secondary to regional akinesia at 28 weeks of gestation with maternal perception of good fetal movement. The diagnosis was based on the findings of no fetal activity in some parts of the body (upper limbs, a part of the face, and thorax), with deformation sequence of fixed flexion at wrist, elbow, and shoulder joints, fixed open mouth, fetal growth restriction, lung hypoplasia, polyhydramnios and normal chromosome study. Surprisingly, fetal akinesia involved only the upper limbs, a part of the face, and chest, whereas the lower limbs were completely normal in both morphology and activity. With vibroacoustic stimulation, the response of fetal heart rate acceleration, gross body movement including fetal head, spine and lower limb movement were observed, but the movement of the upper limbs and fetal breathing were completely absent. Spontaneous labour and delivery occurred at 29 weeks' gestation. Postnatal autopsy confirmed the prenatal findings. In conclusion, prenatal sonography plays an important role not only in detecting Pena-Shokeir phenotype but also in providing the detailed pattern of fetal akinesia. Finally, this case reaffirms the concept that function is an integral part of normal development.- - - - - - - - - - ranking = 1.6565334665759keywords = gestation (Clic here for more details about this article) |
10/159. Neonatal periventricular leukomalacia preceded by fetal periventricular echodensity.OBJECTIVE: The purpose of this prospective study is to verify whether fetal periventricular echodensity (PVE) precedes neonatal periventricular leukomalacia (PVL). methods: Fetal brains were studied with transvaginal scan in 63 high-risk fetuses from 17 to 32 weeks of pregnancy, PVE echogenicity was quantified with ultrasonic histogram, and neonatal brains and clinical courses were studied after birth. RESULTS: No fetal cystic PVL was found, instead, fetal PVE was detected in 42 fetuses. The quantified echogenicity value was higher in PVE than in normal brain. Four cases developed neonatal PVL among 28 preterm and 1 among 14 term births. Neonatal PVL developed in the 23 cases of persistent fetal PVE, whereas no neonatal PVL was found when fetal PVE was negative or disappeared. Cord compression signs were common in PVL cases. CONCLUSION: Neonatal PVL was preceded by antepartum persistent fetal PVE in the present study.- - - - - - - - - - ranking = 0.17173326671206keywords = pregnancy (Clic here for more details about this article) |
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