We present the antenatal cardiac findings in an infant in whom a postnatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) was confirmed. The antenatal findings at 34 weeks’ gestation included biventricular cardiac hypertrophy with pericardial effusion, multiple skeletal anomalies and cerebral ventricular dilatation. A severe CDG-Ia multisystem clinical phenotype evolved in the postnatal period, with the infant succumbing at 3.5 weeks of age secondary to a large pericardial effusion with tamponade. A literature review suggests that this is the first case of cardiac manifestations of CDG-Ia observed antenatally. We would also like to suggest that CDG-Ia should be considered and if possible prenatal diagnosis performed in cases with hypertrophic cardiomyopathy, and/or pericardial effusion.
Objectives: To evaluate the impact of an abnormal fetal cardiac scan on the management of the pregnancy and the outcome of the newborn. Methods: We reviewed all pregnancies that were referred to the Fetal Cardiac Unit for assessment to determine if the finding of a cardiac abnormality influenced the pregnancy and fetus, timing and mode of delivery, the treatment and outcome of the newborn. Diagnoses were confirmed by echocardiography following the baby’s delivery. Results: Between January 2005 and July 2006, there were 251 detailed fetal cardiac scans carried out on at risk pregnancies or those with suspected abnormal scans in 127 fetuses. Seven of the 92 mothers with abnormal fetal cardiac scans opted for termination. Two were successfully treated during the pregnancy for hydrops fetalis arising from a tachyarrhythmia. One was induced early because of deterioration of fetal well-being and increasing cardiac size. Twenty-six infants required a prostaglandin infusion prior to surgery. Two required intensive care for associated malformations. There were 24 survivors following complex surgery, and 2 deaths. Two infants with severe tricuspid valve incompetence from a dysplastic valve died, one associated with a septicaemia and the other where surgery was delayed because of prematurity and low birth weight. There was no maternal morbidity or mortality. Conclusions: Early detection of fetal cardiac malformation allows for careful counselling of the parents, ongoing antenatal review with a planned site and timing of delivery, and anticipatory postnatal care for optimum outcomes. The importance of careful screening is emphasized to allow for referral of mothers with potentially abnormal scans to an appropriate tertiary centre for confirmation and management.
This study helps to inform referral of pregnant women with a fetus who has IVM for prenatal MRI.
Background Cardiac ventricular aneurysms affect 1 in 200,000 live births. To the best of our knowledge, no reported cases of a left ventricular pseudoaneurym and in utero rupture exist to guide optimal management. Case presentation We present a case of fetal left ventricular rupture with a large pericardial effusion, cardiac tamponade and subsequent pseudoaneurysm formation with concerns for a poor prognosis. Interventional drainage of the pericardial effusion led to resolution of tamponade and significant improvement in fetal condition. A multidisciplinary team was utilised to plan birth to minimise risk of pseudoaneurysmal rupture and a catastrophic bleed at birth. Conclusion For similar cases we recommend consideration of birth by caesarean section, delayed cord clamping and a prostaglandin E1 infusion, to reduce the systemic pressures on the left ventricle during transition from fetal to neonatal circulations, until definitive surgical repair. In this case, this resulted in a successful outcome.
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