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We present a case of holoprosencephaly (HPE) with cyclopia and proboscis. The mother was a 35-year-old, G1P1 with no known comorbid conditions, not in a consanguineous marriage, and with no history of illicit drug use. On a routine antenatal ultrasound scan, features of alobar HPE, proboscis, and other anomalies were identified. The mother was counseled about the condition and as per their consent, the pregnancy was terminated. After labor induction, she gave birth to a female neonate weighing 1,000 g. The newborn's Apgar score could not be calculated. In the initial physical examination, an eye and a 3.5-cm proboscis were seen in the middle of the forehead. The newborn had no nose, and the outer ears were normal. On postmortem examination, alobar HPE, polydactyly, ventricular septal defect, and myelomeningocele were confirmed. This case report highlights the importance of attention to these details during antenatal scans for early detection in order to reduce the maternal and neonatal health burden. The pictures presented in this article were taken after obtaining parental consent.
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Introduction Proximal interruption of pulmonary artery (PIPA) is a congenital anomaly presenting with aberrant termination of the pulmonary artery at the hilum. It results in a variety of radiological and clinical manifestations. Clinically, isolated PIPA can be asymptomatic till late adulthood or can present with dyspnoea, chest discomfort, hemoptysis and recurrent infections. PIPA can be associated with multiple cardiovascular anomalies such as tetralogy of Fallot (TOF), ventricular septal defects (VSD), and scimitar syndrome. We present a spectrum of cases with both isolated proximal interruption of the pulmonary artery and cases associated with other cardiovascular abnormalities. Typical chest radiographs and chest contrast-enhanced computed tomography (CECT) findings are discussed and demonstrated in detail. Proper and early diagnosis is a crucial step as it can significantly modify the treatment choice, thereby reducing morbidity. Objective To document the different presentations of the proximal arrest of pulmonary arteries, to document associations with cardiovascular and pulmonary manifestations, and to elaborate on and demonstrate the various radiological imaging findings. Material and methods All the cases that were reported with proximal interruption of pulmonary artery on the CECT studies conducted between 2019 and 2022 at a tertiary care hospital in Telangana, India. The demographic data, clinical presentation, chest radiographs, and chest CECT were collected retrospectively. Data analysis was done using Microsoft Excel 2019 to calculate descriptive statistics. A total of 22 cases were identified of which three cases were excluded of as they were previously operated and 19 cases were taken as the study population. Results Nineteen patients were included in the study. Demographic details, clinical history, CECT, and chest radiographs were collected wherever available. The majority of the cases belonged to the ≤ 10 yrs age group with the most common clinical presentation being a previous diagnosis of tuberculosis or recurrent upper respiratory tract infections. The predominant findings on chest radiographs were deviation of the trachea to the affected side, volume loss in the ipsilateral lung field, and compensatory hyperinflation of the contralateral lung field. On the CECT chest, the main findings were interrupted pulmonary artery, hypoplastic lung fields with bronchiectasis, or ground glassing. Associated cardiovascular and pulmonary malformations were identified with notable cases: TOF, right-sided aortic arch and scimitar syndrome. Their typical imaging findings have been elucidated and discussed in detail. Conclusions Patients with recurrent respiratory infections or hemoptysis having hypoplastic lung field with hyperinflation of the contralateral lung on chest radiographs should be evaluated for pulmonary artery interruptions. Chest CECT allows evaluation of the bronchial tree and lung parenchyma at the same time which helps distinguish pulmonary interruption from conditions such as Swyer-James-Macleod syndrome, pulmonary hypoplasia, thromboembolism and arteritis. Cases with PIPA can also be associated with cardiovascular and pulmonary anomalies such as TOF, partial anomalous pulmonary venous connection (PAPVC), and VSD. The knowledge of these associations is essential as they can influence the mode of treatment and can help reduce the long-term morbidity and mortality associated with the condition.
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OBJECTIVES: We investigated the potential for improvement in prenatal detection of congenital heart disease (CHD) by routinely performing detailed fetal echocardiography (FE) in all pregnant women. METHODS: Following routine obstetric sonography, 1445 unselected pregnant women were prospectively subjected to FE at gestational ages between 16 and 24 weeks, or at first visit, if they presented later. Maternal or fetal factors, conventionally known to be associated with risk of CHD, were noted. The prevalence and detection rates of cardiac abnormalities were determined, and confirmation of findings by postnatal follow-up was done to ensure accuracy of FE. Prevalence of CHD was compared in pregnancies with or without conventional risk factors. RESULTS: The overall prevalence of CHD was 8.3 per 1000; only 2 CHD cases belonged to the high maternal risk group, while 10 cases were observed without maternal risk factors. Cardiac malformations were suspected in 14 fetuses during obstetric scan; but, only 5 of them had CHD, remaining 9 had structurally normal hearts. 50% of CHD cases occurred in pregnancies not associate with any (fetal or maternal) risk factor. The sensitivity, and specificity for prenatal CHD detection were 91.7% and 100% respectively. CONCLUSIONS: Our study indicates that a substantial proportion of CHD cases occur in women not having high risk of giving birth to children with CHD. FE is a highly sensitive and specific test with strong predictive values. We recommend that FE should be done in every pregnancy.