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Antenatal diagnosis and treatment of a fetal goiter.

The sonographic diagnosis of a fetal goiter, confirmed at delivery, is described in a fetus exposed to large doses of propylthiouracil, which was administered to the mother. The pregnancy was also complicated by recalcitrant premature labor secondary to polyhydramnios. The intraamniotic instillation of thyroxine decreased the size of the fetal goiter, and numerous therapeutic amniocenteses permitted continuation of the pregnancy, so a mature infant with a goiter but no airway obstruction was delivered. Amniotic fluid reverse-T3 assays confirmed fetal utilization of the thyroxine. Fetal thyroid physiology is discussed briefly along with the benefits of the antenatal sonographic diagnosis of fetal goiter.

Adult↗

[Atresia of the jejunum, ileum and colon; a retrospective study].

The results are described of a retrospective study of 142 patients with atresias of the jejunum, ileum and colon in the Netherlands. It is pointed out that pregnancy had often been complicated by polyhydramnios. This may lead to an early diagnosis in the prenatal period. Whenever a neonate presents with bilious vomiting or distension of the abdomen, closer examination for intestinal atresia should take place. The production of meconium does not rule out the diagnosis of intestinal atresia.

Adolescent↗

Prenatal diagnosis of gastrointestinal tract obstruction.

The diagnosis of possible duodenal atresia was made in a near-term fetus. The mother had developed polyhydramnios, and the fetus was found on sonography to have two communicating upper abdominal masses. It also failed to ingest contrast media after injection of radiopaque material into the amniotic sac. An esophageal atresia was found after delivery, in addition to the prenatally diagnosed duodenal atresia. The infant had a surgical repair 16 hours after delivery and survived.

Amnion↗

[Pena-Shokeir syndrome: report of a case with benign outcome].

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation and by fetal akinesia or hypokinesia that leads to craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. The case that we report had a favourable evolution, although there was at birth a severe respiratory distress. EMG studies revealed deficit of innervation. Contraceptive therapy, wrongly used by the mother in the first period of pregnancy, played, probably, a concomitant role in the pathogenesis of the syndrome.

Abnormalities, Drug-Induced↗

[Perinatal morbidity and mortality in pregnant women with diabetes mellitus].

The purpose of this study was to investigate the perinatal morbidity and mortality in all the diabetic pregnancies seen at the HGO-"LCA" from January 1992 to December 1993. In that period 186 women (mean age 31 yr) were diagnosed as having diabetes during pregnancy: 54% of them had DMG, 40% DM-II and 6% DM-I, with serum glucose concentration of 133 +/- 41 mg/dL. Neonatal morbidity was given by macrosomia (17%), prematurity (14%), hyperbilirubinemia (11%), hypoglycemia (8%), congenital malformation (6%) and hypocalcemia (4%). Perinatal mortality was 5.3%. The principal causes of maternal morbidity were preeclampsia (17%), polyhydramnios (16%), pyelonephritis (4%) and ketoacidosis (0.05%). Cesarean section was performed in 62% of all diabetic patients. There was not any maternal death. This results showed a high perinatal morbidity-mortality in pregnancies complicated by diabetes mellitus which reclaim a better metabolic control during gestation period.

Adult↗

[Renal tubular dysgenesis].

Renal tubular dysgenesis (RTD) is a very rare malformation, only 24 cases having been described. We present the case of twins born after 28 weeks gestation to a newly-arrived Ethiopian immigrant in whom oligohydramnios was diagnosed when she was admitted. 1 twin had developed polyhydramnios, died before birth and was born with hydrops fetalis. The other newborn suffered from pulmonary distress and anuria, and died 2 days after birth. At autopsy there were no apparent changes in the kidneys or urinary tract, but histological examination showed absence of proximal convoluted tubules. This was attributed to RTD and confirmed by histochemical examination.

Diseases in Twins↗

[Transient neonatal myasthenia gravis].

Authors reported about their experiences with newborn infants, who had transient myasthenia gravis; one disease developed in the fetal, others 10 in the early neonatal age. Direct correlation was found between the development of maternal polyhydramnios and the severity symptoms in newborns: risk of neonatal myasthenia gravis increased at these infants. Specific treatment included blood exchange transfusions and pyridostigmin (Mestinon) medication for 2-10 weeks. Five transient myasthenia gravis responded readily to blood exchange transfusions. Authors pointed out that in the early neonatal period the aetiology of an obscure respiratory inadequacy and hypoventilation might be regarded as transient myasthenia gravis.

Adult↗

[Maternal and neonatal effects of indomethacin administrated during pregnancy. Apropos of 18 cases].

BACKGROUND: There have been several reports that prolonged exposure of pregnant women to indomethacin for tocolysis may have significant pharmacological effects on the fetus or newborn. PATIENTS: Eighteen pregnant women were given indomethacin during the year 1989 for treatment of premature labor (n = 16) or polyhydramnios (n = 2). Treatment was started at gestational week 28.1 +/- 2.5 and was discontinued at gestational week 30.7 +/- 1.8. The mean age of the women at the onset of pregnancy was 30.6 +/- 5.3 years. The daily dose of indomethacin was initially 200 mg (2-3 mg/kg), then 107 +/- 59 mg. The cumulative dose was 1,820 +/- 2,370 mg. The duration of treatment was 18.1 +/- 16.4 days (less than 7 days in 8 women). RESULTS: The term at delivery was 33.4 +/- 3.3 weeks (11 after 32 weeks). The mean interval between discontinuation of treatment and delivery was 19.0 +/- 18.7 days. Indomethacin was effective in 10 cases of premature labor, and gestation was prolonged by 52.6 +/- 19.2 days. Among the 23 live-born neonates, 5 developed renal insufficiency attributed to indomethacin (4 premature labor, 1 hydramnios). The kidney failure with early hyperkalemia was cured within about 7 days in 4 cases. The remaining neonate also suffered from severe prolonged hypoxia and died on day 4. CONCLUSIONS: Administration of indomethacin for premature labor places the fetus at risk because of the short drug-free interval before birth. High daily or cumulative doses of indomethacin dit not result in adverse effects.

Adult↗

Intra-amniotic maternal hemorrhage in preterm labor: a case report.

A primigravid women was transferred to hospital because of preterm labor at 32 weeks' gestation with no vaginal bleeding. Hematologic studies showed severe anemia. Ultrasound examination revealed polyhydramnios and a clot around the umbilical cord without retroplacental hematoma. Diagnostic amniocentesis revealed heavily blood stained fluid, but HbF was not detected. With a clinical diagnosis of intra-amniotic maternal hemorrhage, immediate cesarean section was performed. The mechanism of intra-amniotic maternal hemorrhage is discussed.

Adult↗

[Evaluation of the usefulness and reference values for the amniotic fluid index in normal pregnancy between 30 and 42 weeks of gestation].

The four-quadrant sum of amniotic fluid pockets (amniotic fluid index) was studied prospectively in 130 normal pregnancies from 30 to 42 weeks. Statistical investigation were used to establish the mean, 95% confidence intervals and standard deviations for the AFI at each week of gestation. The AFI value decreased since 30 week, especially between 33 and 34 week and after 41 week. The AFI value < or = 5 represents oligohydramnios, the AFI value > or = 20 constitutes polyhydramnios.

Amniotic Fluid↗

Antenatal-onset infantile cortical hyperostosis and nonimmune hydrops.

Infantile cortical hyperostosis antenatal onset is an uncommon disease characterized by polyhydramnios, anasarca or hydrops, pulmonary hypoplasia, hepatomegaly, bowed hyperostotic long bones, and a poor prognosis. Sonographically the intrauterine manifestations may be similar to those of osteogenesis imperfecta, type II.

Female↗

Incidence of chromosomal abnormalities in 153 pregnancies with ultrasound detected fetal abnormalities.

One hundred and fifty-three patients with fetal abnormalities diagnosed on ultrasound were karyotyped between January 1992 and December 1993. There were 19 (12.4%) fetuses with chromosomal abnormalities. The risk of chromosomal aberrations in the malformed fetuses were increased in the presence of intrauterine growth retardation (15.4%), oligohydramnios (20%) and polyhydramnios (25%). Fetal karyotyping is thus essential in the management of such pregnancies.

Chromosome Aberrations↗

Resolution of hydrops in twin-twin transfusion syndrome: could steroids have a role?

A case of twin-twin transfusion is presented with hydrops occurring twice in the recipient twin and resolving. Polyhydramnios was treated with numerous volume-reducing amniocenteses (amnioreductions), which were performed prior to both occurrences of hydrops. Amnioreductions were only performed before the first resolution of hydrops, whereas betamethasone was given prior to both episodes of hydrops resolving. Steroids may be useful not just in case of premature delivery but also to help a compromised fetus cope in utero.

Adult↗

Nonimmune hydrops fetalis and bilateral pulmonary hypoplasia in a newborn infant with nuchal vascular hamartoma.

Nuchal vascular hamartoma was found in a newborn premature infant who presented with nonimmune hydrops fetalis, pulmonary hypoplasia due to bilateral pleural effusion and polyhydramnios in utero. The baby died 26 hours after birth despite maximal respiratory and circulatory support. Postmortem examination revealed a vascular hamartoma localized to the left posterolateral region of the neck. We suggest that nuchal vascular hamartoma may be associated with fetal hydrops, probably due to compromised lymph drainage.

Abnormalities, Multiple↗

[The prognostic indices in congenital diaphragmatic hernia. Its management].

The reported mortality for prenatally detected congenital diaphragmatic hernia is high. We retrospectively reviewed 18 cases of congenital diaphragmatic hernia diagnosed prenatally in our hospital and analyzed several high-risk factors adversely affecting outcome. The diagnosis before 32 weeks gestation is associated with high mortality than in cases detected later. Polyhydramnios and underdevelopment of left-side cardiac structures were found to be helpful prognostic factors. These should be taken into account when the management of these cases is planed.

Bulgaria↗

Complete absence or deficiency of one half of the body.

Here we report on an apparently unprecedented case of virtually complete absence of the left half of the body, with resulting severe deformity of the right half. The fetus was stillborn with polyhydramnios at 31 1/2 weeks of gestational age. A second patient may be a mild example of this extraordinary phenomenon with deficiency of organs, predominantly on the left side. The nosology and developmental implications are discussed briefly.

Abnormalities, Severe Teratoid↗

Intestinal atresia and stenosis: a 25-year experience with 277 cases.

OBJECTIVE: To evaluate the causes, clinical presentation, diagnosis, operative management, postoperative care, and outcome in infants with intestinal atresia. DESIGN: Retrospective case series. SETTING: Pediatric tertiary care teaching hospital. PATIENTS: A population-based sample of 277 neonates with intestinal atresia and stenosis treated from July 1, 1972, through April 30, 1997. The level of obstruction was duodenal in 138 infants, jejunoileal in 128, and colonic in 21. Of the 277 neonates, 10 had obstruction in more than 1 site. Duodenal atresia was associated with prematurity (46%), maternal polyhydramnios (33%), Down syndrome (24%), annular pancreas (33%), and malrotation (28%). Jejunoileal atresia was associated with intrauterine volvulus, (27%), gastroschisis (16%), and meconium ileus (11.7%). INTERVENTIONS: Patients with duodenal obstruction were treated by duodenoduodenostomy in 119 (86%), of 138 patients duodenotomy with web excision in 9 (7%), and duodenojejunostomy in 7 (5%) A duodenostomy tube was placed in 3 critically ill neonates. Patients with jejunoileal atresia were treated with resection in 97 (76%) of 128 patients (anastomosis, 45 [46%]; tapering enteroplasty, 23 [24%]; or temporary ostomy, 29 [30%]), ostomy alone in 25 (20%), web excision in 5 (4%), and the Bianchi procedure in 1 (0.8%). Patients with colon atresia were managed with initial ostomy and delayed anastomosis in 18 (86%) of 21 patients and resection with primary anastomosis in 3 (14%). Short-bowel syndrome was noted in 32 neonates. MAIN OUTCOME MEASURES: Morbidity and early and late mortality. RESULTS: Operative mortality for neonates with duodenal atresia was 4%, with jejunoileal atresia, 0.8%, and with colonic atresia, 0%. The long-term survival rate for children with duodenal atresia was 86%; with jejunoileal atresia, 84%; and with colon atresia, 100%. The Bianchi procedure (1 patient, 0.8%) and growth hormone, glutamine, and modified diet (4 patients, 1%) reduced total parenteral nutrition dependence. CONCLUSIONS: Cardiac anomalies (with duodenal atresia) and ultrashort-bowel syndrome (<40 cm) requiring long-term total parenteral nutrition, which can be complicated by liver disease (with jejunoileal atresia), are the major causes of morbidity and mortality in these patients. Use of growth factors to enhance adaptation and advances in small bowel transplantation may improve long-term outcomes.

Colonic Diseases↗

Gastrointestinal tract obstruction in the fetus.

Surgical advice is often sought when a prenatal diagnosis of gastrointestinal tract obstruction is made. We reviewed our experience with 17 such cases during a 4-year period. Eight fetuses had complete proximal obstruction. Seven of the 8 did well after maternal transport to a perinatal center and prompt neonatal surgery. Six fetuses had distal obstruction with dilated bowel and increased peristalsis. Two died after birth (1 with severe associated anomalies and 1 with short-bowel syndrome), and the other 4 did well. Three fetuses had a false-positive diagnosis of in utero meconium peritonitis. Two died and the other had no postnatal evidence of obstruction. Our data suggest (1) polyhydramnios may not be present early in gestation or with distal obstruction; (2) other anomalies, including a family history of cystic fibrosis, should be sought; (3) dilated bowel with increased peristalsis is diagnostic of fetal gastrointestinal tract obstruction, whereas intra-abdominal calcification and ascites are nonspecific findings; (4) late development of ascites in a fetus with documented obstruction may be an indication for early delivery; and (5) prenatal diagnosis permits appropriate counseling, planned delivery, and prompt postnatal resuscitation and surgery with a good prognosis in most cases.

Abnormalities, Multiple↗