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PubMedDate not supplied

Mild ventriculomegaly, mild cerebellar hypoplasia and dysplastic choroid plexus as early prenatal signs of CHARGE association.

CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, no prenatal diagnosis of the CHARGE association has been described; only one case report presents prenatal symptoms detected at 31 gestational weeks. In our case, prenatally detected mild cerebral ventriculomegaly and dysplasia of choroid plexus were abnormalities visible as early as 15+6 weeks as well as mild cerebellar hypoplasia at 21+1 weeks. At 28+6 weeks, in addition polyhydramnios could be found. The combination of the 'benign' central-nervous findings raised suspicion of a severe congenital malformation at 21+1 weeks which was confirmed postnatally in the form of diagnosis of CHARGE association.

Adult↗
PubMedDate not supplied

Intermittent 'double bubble' sign in a case of congenital pyloric atresia.

We report a case of congenital pyloric atresia in which two cystic masses in the fetal upper abdomen and polyhydramnios were observed from 24 weeks' gestation to term. The two cystic masses were thought to indicate the 'double bubble' sign in utero, leading to a misdiagnosis of congenital duodenal obstruction. At 33 weeks' gestation, continuous ultrasound observation of the two cystic masses was made for 60 min. During the periods when gastric peristalsis was absent, the 'double bubble' sign was observed. However, during the periods when gastric peristalsis was present, the 'double bubble' sign disappeared. In retrospect, both cystic masses were stomach and the 'double bubble' sign disappeared with peristalsis of the antrum. In order to differentiate from congenital duodenal obstruction, whole stomach configuration should be delineated by continuous observation covering periods when gastric peristalsis is active as well as quiet.

Adult↗
PubMedDate not supplied

Monopolar thermocoagulation in the management of acardiac twins.

OBJECTIVE: To demonstrate the equipment setup and the application of monopolar thermocoagulation in the management of acardiac twins. METHODS: We described 2 cases of acardiac acephalus twins who developed congestive heart failure and polyhydramnios at 20 weeks of gestation. A monopolar wire electrode was inserted through a 14-gauge trocar under ultrasound guidance. The inter-twin circulation was interrupted and confirmed by color Doppler flow examination. RESULTS: Case 1 was detected at 20 weeks of gestation with progression to early signs of fetal congestive heart failure at 22 weeks. This case had smooth operative procedure and delivered a healthy infant at 32 weeks. Case 2 was referred at 24 weeks of gestation with marked fetal congestive heart failure. Although thermocoagulation cessed the inter-twin perfusion, the fetus died in utero 12 h later with persistent irreversible circulatory compensation. CONCLUSION: Monopolar thermocoagulation was an effective and generally available alternative technique to fetal endoscopic surgery for the interruption of vascular communication between acardiac twins.

Abnormalities, Multiple↗
PubMedDate not supplied

Limited prognostic value of a staging system for twin-to-twin transfusion syndrome.

OBJECTIVE: Severe twin-to-twin transfusion syndrome (TTTS) is usually classified according to a staging system (I-V) based on ultrasonographic findings of polyhydramnios in the recipient, oligohydramnios in the donor, the presence or absence of the donor's bladder, Doppler waveform changes and (impending) hydrops. Stage correlates with the severity of disease, and it is assumed that, without intervention, severe TTTS will evolve in succession from stage I to stage V (fetal demise). However, this progression has not been validated in longitudinal studies. Herein, we report on the natural progression of severe TTTS in a cohort of patients from a regional Fetal Treatment Program. METHODS: Eighteen patients with severe TTTS, diagnosed between 15 and 25 weeks of gestation, were managed over a 28-month period. Data were collected until delivery, endoscopic surgical intervention or dual fetal demise. Patients were evaluated at least once a week. Stage, estimated fetal weight, percent recipient/donor body weight discordance and survival were recorded. RESULTS: The present study represents a total follow-up of 108 patient-weeks. Of 90 week-to-week evaluations, 65 showed no change in stage; 11 showed downstaging (by more than 1 stage in 3, or 27%), and 13 showed upstaging (by more than 1 stage in 8, or 62%). Nine patients (all stage II or above) underwent endoscopic laser ablation. Overall survival was 67%, and survival of at least 1 twin occurred in 78% of pregnancies. Weight discordance between the donor and recipient did not predict outcome. CONCLUSION: The current staging system for severe TTTS may not be helpful in predicting the direction, degree or speed of progression of the condition. Indications for intervention should remain stage-related, and not based on projected progression.

Cohort Studies↗
PubMedDate not supplied

Clinical and anatomic features of acardiac twins.

OBJECTIVE: To report 6 cases of acardiac twins, and to investigate prognostic factors that would lead to survival of the normal twin. SUBJECTS AND METHODS: During a 9-year period from 1993 to 2001, 6 cases of acardiac twins out of 109,000 deliveries at the Maternity Center, Tunis, Tunisia were studied. Detailed inspection, X-rays, ultrasound and autopsies were performed. RESULTS: Prenatal diagnosis was made in only 1 case at 33 weeks of gestation. Rudimentary cardiac tissue was observed in 2 of the 6 perfused twins, and the cephalic pole was less developed than other parts of the body. Severe agenesis or hypoplasia of the thoracoabdominal organs was commonly observed. Many limb malformations were observed, with arms the most affected. One of the pump twins was stillborn, 3 died between days 1 and 3 from respiratory distress, and 2 developed cardiac failure after birth and were treated with diuretics and digoxin, which led to a favorable outcome in only 1. The ratio of the weight of the acardiac to pump twin (TWR) ranged from 50 to 142%. CONCLUSION: The findings of this study indicate that acardia can be diagnosed by means of ultrasound in front of a monochorial twin pregnancy when one of the fetuses is deformed and has no cardiac activity. Heart failure and polyhydramnios, as well as a TWR greater than 50% are prognostic factors for the pump twin.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital cystic adenomatoid malformation in the fetus: a hypothesis of its development.

We present a case of congenital cystic adenomatoid malformation of the lung diagnosed at 34 weeks of gestation in the setting of polyhydramnios. The fetus had CCAM in the L lung, with mediastinal shift to the right and ascites. The neonate underwent drainage of cysts and subsequent left lung lobar resection with improvement in respiratory function. The pathology of CCAM is reviewed in detail. We speculate the role of alcohol as a teratogen through retinoic acid at 8-10 weeks of gestation when fetal lungs are actively developing.

Acute Disease↗
PubMedDate not supplied

Elevated aldosterone in amniotic fluid and maternal blood has diagnostic potential in pregnancies complicated with a fetus of Bartter syndrome.

Pregnancies with fetuses affected with the Bartter syndrome, an autosomal recessive disorder of hyperreninism and hyperaldosteronism, are complicated by early onset of polyhydramnios which results in preterm deliveries. We have assessed biochemical changes in amniotic fluid and the mother's blood with a view to early diagnosis. Aldosterone levels of both amniotic fluid and the mother's blood were found to be increased at 27 weeks of gestation, while electrolyte levels did not differ significantly from those reported earlier for controls. After birth the baby suffered from polyuria with hyponatremia, hypomagnesemia and hypercalciuria which could be controlled by treatment with sodium chloride and magnesium. Elevated aldosterone thus might be a useful marker for early diagnostic purposes.

Adult↗
PubMed1989

Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects.

In 36 fetuses with congenital diaphragmatic hernia (CDH) diagnosed at 18-36 weeks' gestation, detailed ultrasound examination was performed for the detection of associated malformations and assessment of the likelihood of pulmonary hypoplasia. In all cases karyotyping was undertaken in blood samples obtained by cordocentesis. In 11 (31%) fetuses there were lethal chromosomal abnormalities and in 6 (17%) of the chromosomally normal fetuses there were additional lethal malformations. Of the 17 fetuses with isolated CDH and where the pregnancy was not electively terminated. 9 (60%) survived and 6 (40%) died in the neonatal period due to pulmonary hypoplasia. The presence or absence of polyhydramnios, fetal breathing movements, mediastinal shift and thoracic position of the stomach were not useful in predicting postnatal outcome.

Abnormalities, Multiple↗
PubMedDate not supplied

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung.

Ultrasonographic examination on a fetus at 24 weeks of gestation revealed an intrathoracic cystic mass with fetal hydrops and polyhydramnios. Pathological findings obtained at autopsy which was conducted on the fetus at 28 weeks indicated a typical congenital cystic adenomatoid malformation (CCAM) of the lung. The differential diagnosis and possible intrauterine treatment for lung CCAM are discussed.

Adult↗
PubMedDate not supplied

A case of fetal intestinal tract distensions: prenatal biochemical and ultrasound evaluation.

Fetal intestinal tract abnormalities can be pregnancy complications at all maternal ages. There have been reports of ultrasound identification of these abnormalities, particularly of fetal intestinal obstructions. We report the first case to our knowledge of elevated levels of the intestinal isozyme, alkaline phosphatase, in the amniotic fluid and blood serum and also the presence of prealbumin in the amniotic fluid of a fetus with extensive intestinal distension and polyhydramnios. It was revealed that the alkaline phosphatase intestinal isozyme as well as protein electrophoresis for abnormal albumin bands in the amniotic fluid are valuable markers for the early diagnosis of the above-mentioned fetal abnormalities.

Abnormalities, Multiple↗
PubMedDate not supplied

Indomethacin and fetal ductus arteriosus: complete closure after cessation of prolonged therapeutic course.

Indomethacin is a very effective tocolytic agent. However, concern about its possible constrictive effect on fetal ductus arteriosus has limited the use of this medication in pregnancy. A 29-year-old woman was treated with indomethacin at 27 weeks of gestation for preterm labor and polyhydramnios. She received a dose of 75 mg/day for 5 weeks. At 35 weeks of gestation, she had a cesarean delivery due to fetal distress, and a hydropic baby was delivered. The infant died shortly after. Nonimmune hydrops fetalis and closed ductus arteriosus were the only pathological findings at autopsy. In utero, irreversible, complete closure of the ductus arteriosus is very rare. In the case presented, prolonged use of indomethacin during pregnancy was associated with complete closure of the ductus arteriosus that developed most probably after discontinuation of therapy. This case emphasizes the need for frequent fetal echocardiography examinations during as well as after maternal indomethacin treatment.

Adult↗
PubMedDate not supplied

Constriction of an extremity after amnioreduction in a TRAP-like sequence.

We present an unusual case of TRAP sequence (twin reversed arterial perfusion) with persistent polyhydramnios despite spontaneous thrombosis of the vena umbilicalis of the acardius. Serial amnioreduction was performed owing to considerable maternal discomfort and preterm labor. After three procedures, spontaneous abortion occurred. Unexpectedly, the normal twin had an apparently recent constriction of the right forearm. We hypothesize that limb constriction could be a rare but specific complication of aggressive amnioreduction.

Abortion, Spontaneous↗
PubMed1982

Umbilical cord length as an index of fetal activity: experimental study and clinical implications.

Umbilical cord length varies considerably and the factors controlling cord length are unknown. Experiments in rat fetuses indicate that (1) restriction of fetal movements by oligohydramnios leads to short cord. The umbilical cords were significantly shorter in proportion to the duration or time of onset of the oligohydramnios. The mean cord length represented 65% of littermate control values when persistent oligohydramnios was induced on day 15, 71% for day 16 and 78% for day 17 (term day 21). (2) Suppression of fetal movements by curarization from day 18 on leads to short cords, irrespective of amniotic fluid volume. The paralyzed fetuses with polyhydramnios had a mean cord length representing 85% of sham operated controls, and those with oligohydramnios and paralysis had a similar mean cord length, 86% of controls. (3) Extra-uterine pregnancies with the fetuses free in the maternal abdominal cavity, yet attached to their umbilical cords, led to cords measuring 147% of littermate controls. (4) In contrast, when the extra-uterine fetuses were fixed to the uterine horn, close to the placental implantation site, with little or no stretch applied to the cord, the mean cord length was 90% od littermate controls. These results indicate that tensile forces on the cord secondary to fetal movements are important determinants of cord length.

Amniotic Fluid↗
PubMed1990

Intrauterine diagnosis and treatment of fetal goitrous hypothyroidism.

Newborn screening programs for the detection of congenital hypothyroidism have dramatically shortened the time before treatment is begun. However, concern still exists about central nervous system sequelae which may persist due to a period of untreated intrauterine hypothyroidism. Presence of polyhydramnios led to the ultrasound diagnosis of a fetal goiter. Hypothyroidism was confirmed at 34 weeks gestation by percutaneous fetal blood sampling, which revealed an elevated TSH (186 mU/L) and a low T4 (19.3 nmol/L). Intraamniotic fluid injections of 500 micrograms levothyroxine sodium (T4) every 10-14 days increased fetal serum T4 (59.2 nmol/L), decreased fetal serum TSH (14 mU/L), decreased amniotic fluid TSH, and decreased the size of the fetal goiter. The infant was born at term without perinatal complications. Thyroid function studies on cord blood were normal (T4, 109.4 nmol/L; TSH, 1.3 mU/L), and the infant was discharged on oral T4. Follow-up examination at age 6 weeks revealed that the infant was developmentally normal and clinically and chemically euthyroid. Intrauterine T4 therapy can suppress fetal TSH and treat fetal hypothyroidism despite hypothyroid levels of serum T3. Highly sensitive TSH assays may allow the use of amniotic fluid TSH as a marker for fetal hypothyroidism.

Adult↗
PubMed1999

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.

Adult↗