Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus.

OBJECTIVE: We present prenatal diagnosis of maternal uniparental disomy (UPD) 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction (IUGR) in the fetus. CASE REPORT: A 38-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age, and the result was 47,XX,+16[2]/46,XX[54]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed 14% mosaicism for trisomy 16 and a paternally inherited 319-kb microdeletion of 15q11.2 encompassing the genes of TUBGCP5, CYFIP1, NIPA2 and NIPA1. Prenatal ultrasound revealed persistent left superior vena cava, pericardial effusion and severe IUGR. Cordocentesis at 23 weeks of gestation revealed a karyotype of 46,XX, but polymorphic DNA marker analysis revealed maternal UPD 16. Repeat amniocentesis was performed at 27 weeks of gestation and revealed a karyotype of 46, XX in 21/21 colonies. Molecular cytogenetic analysis on uncultured amniocytes revealed 22.4% mosaicism (26/116 cells) for trisomy 16 on interphase fluorescence in situ hybridization (FISH) analysis, and 20% mosaicism for trisomy 16 on aCGH. Polymorphic DNA marker analysis on the DNAs extracted from uncultured amniocytes and parental bloods revealed maternal UPD 16. The pregnancy was subsequently terminated, and a fetus was delivered with facial dysmorphism and severe IUGR. The umbilical cord had a karyotype of 47,XX,+16[28]/46,XX[16]. Polymorphic DNA marker analysis on placenta confirmed a maternal origin of trisomy 16. CONCLUSION: Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may present in mosaic trisomy 16 at amniocentesis. Prenatal diagnosis of mosaic trisomy 16 should alert the association of maternal UPD 16 which may be associated with congenital heart defects and severe IUGR on prenatal ultrasound.

Management of a fetal intrapericardial teratoma: a case report and review of the literature.

Intrapericardial teratomas are rare but potentially fatal. With prenatal ultrasound, early diagnosis and decision for treatment can be accomplished. However, the decision becomes to treat prenatally vs. waiting until the neonatal period for definitive surgical management. The most common sequelae of intrapericardial teratomas are pericardial effusion and often progression to hydrops. It is these sequelae that tend to guide management. Presented here is a case report of the diagnosis and management of a twin fetus with an intrapericardial teratoma, as well as a review of the literature.

Congenital cytomegalovirus infection in 1 twin with a pericardial effusion: a case report.

BACKGROUND: Congenital fetal damage related to cytomegalovirus (CMV) infection is largely attributable to maternal primary infection. Twin fetuses may react differently to the same maternal influences. CASE: A woman had a sonographically documented fetal pericardial effusion in 1 twin at 33 weeks of gestation. The workup for maternal infection and fetal structural anomaly was negative except for positive CMV Ige in the maternal serum Cesarean section was performed due to fetal distress. After delivery, CMV viral antigenemia was found in 1 twin with petechiae, thrombocytopenia, hepatosplenomegaly and ventriculomegaly. The other twin was not infected and in stable condition. CONCLUSION: Since twin fetuses simultaneously exposed to the same maternal influence had a completely different outcome, maternal factors play a limited role in influencing CMV transmission.

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have been reported. Two more unrelated patients with CDG-Ia who presented with hydrops fetalis are reported here, providing definite evidence that non-immune hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the phosphomannomutase 2 gene, probably fully inactivating the enzyme, and one milder mutation with residual activity, as had the patients reported in literature. The presence of one severe mutation might be required for the development of hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should also be considered.

The high-riding superior aortic recess of the pericardium: MRI visualization in a child.

We report a 4-year-old child with a high-riding superior aortic recess of the pericardium, initially misdiagnosed as a possible vascular malformation. The anatomy of the pericardial recesses is reviewed.

Prenatal diagnosis of a right ventricular diverticulum complicated by pericardial effusion in the first trimester.

A ventricular diverticulum associated with a large pericardial effusion was diagnosed at 13 weeks of gestation. The pericardial effusion resolved spontaneously by 20 weeks and the diverticular size remained the same during pregnancy. In the postnatal period the neonate underwent surgical correction of both the diverticulum and associated ventricular and atrial septal defects. Our case indicates that congenital ventricular diverticulum may be associated with a good perinatal outcome.

Isolated primary chylopericardium: a case report.

Isolated primary chylopericardium is a rare entity with an obscure etiology. The authors report a 10-week-old male infant presenting with tachypnea and enlarged cardiac silhouette. Echocardiography revealed a large pericardial effusion. A specific diagnosis of chylopericardium was made by pericardiocentesis and analysis of the fluid. Despite the pericardial tube drainage and medium-chain triglyceride diet, pericardial effusion reaccumulated. Ligation of the thoracic duct with the establishment of a pleuropericardial window was performed through a left thoracotomy. Follow-up echocardiograms have shown no reaccumulation of the pericardial fluid.

Derrame fetal severo con terapia medicamentosa anteparto. Presentación de 1 caso / Severe fetal effusion treated with prenatal drug therapy. A case report

Se presentó 1 caso en el cual se diagnosticó un derrame pericárdico severo en el feto, a las 30 sem de gestación, con bradicardia que se fue incrementando con riesgo de taponamiento cardíaco y de muerte fetal intraútero. Como la paciente, después del asesoramiento genético, deseaba continuar el embarazo se decidió realizar terapia fetal con digitálicos a razón de 0,50 mg diarios y antibioticoterapia, pensando en una posible miocardiopatía y sin hallar en el ecocardiograma fetal otras alteraciones anatómicas. Se observó la evolución del caso ultrasonográficamente, se lograron resultados satisfactorios pues el derrame fue disminuyendo paulatinamente de 22, hasta 4 mm con buena contractilidad del miocardio y mejoría de la frecuencia cardíaca fetal, además disminuyó el índice de líquido amniótico del 97,5 percentil a 50, la biometría fetal se comportó en límites normales. Se practicó cesárea a las 40 sem por sufrimiento fetal agudo y se extrajo el feto femenino de 3 040 g con Apgar 8-9 puntos y evolución satisfactoria. El examen del recién nacido fue normal por cardiología; se siguió la evolución en consultas de puericultura, integralmente y se comprobó que esta fue satisfactoria. Se considera en estos momentos una niña sana

Adverse neonatal effects of maternal labetalol treatment.

Two infants with features of severe beta adrenergic blockade, pericardial effusions, and myocardial hypertrophy were born to mothers receiving long term treatment with oral labetalol for hypertension in pregnancy. Labetalol was implicated in the aetiology of these problems. Pericardial effusion and myocardial hypertrophy have not been associated with labetalol toxicity in neonates.

An unusual hernia: congenital pericardial effusion associated with liver herniation into the pericardial sac.

To our knowledge there have been only two previous cases of diaphragmatic hernia into the pericardium diagnosed antenatally. We describe our pre- and post-natal radiological findings in such a case, although the final diagnosis eluded us until after delivery.

Massive foetal pericardiomegaly causing pulmonary hypoplasia, associated with intra-pericardial herniation of the liver.

The clinical features, investigation, treatment and outcome of four newly born babies with the following recognisable triad of findings are presented: Bilateral pulmonary compression with or without hypoplasia. Massive pericardial effusion without cardiac compromise. An intrapericardial hernia containing part of the liver. The primary event in the causation of this triad is a congenital defect in the central tendon of the diaphragm. Compromised hepatic venous outflow involving the herniated part of the liver is the postulated origin of the fluid within the pericardium (Budd-Chiari-like effect). Although rare, this triad is clinically identifiable. Sonar imaging clinches the diagnosis. Surgical correction is simple but the prognosis depends on the presence of pulmonary hypoplasia which caused death in two cases and on other described lethal associated anomalies which were not encountered in the reported patients.

[Neonatal idiopathic pericardial effusion]. / Epanchement péricardique idiopathique néonatal.

The authors describe a case of hydropericardium occurring in a fullterm neonate presenting with a respiratory distress syndrome due to persistent fetal circulation. The baby was treated by surgery. No etiology could be found to explain this hydropericardium.

Congenital hydropericardium associated with the herniation of part of the liver into the pericardial sac.

A congenital pericardial effusion without a clinically obvious cause is rare. The presentation, diagnostic studies, and anatomic findings in three such cases are described. It is postulated that the fluid within the pericardial sac, was a transudate produced by a partially strangulated portion of the liver, trapped in an intrapericardial hernia with sac, which was present in each case. Encroachment with compression by the enlarged pericardium on the developing lung bud structures is the reason given for the pulmonary hypoplasia, associated with this form of diaphragmatic hernia. Severe pulmonary insufficiency was the presenting feature, while cardiac tamponade is noted for its absence, in these cases.