Linda Daou

Role of First-Trimester Sonography in the Diagnosis of Aneuploidy and Structural Fetal Anomalies

Objective. We sought to determine the sensitivity of the first‐trimester scan in the early diagnosis of aneuploidy and structural fetal anomalies in an unselected low‐risk population. Methods. This was a retrospective chart review of all patients having first‐trimester scans between 2002 and 2009. At our center, a survey of fetal anatomy is performed at the time of nuchal translucency assessment at 11 weeks to 13 weeks 6 days. A second‐trimester scan is done at 20 to 23 weeks and a third‐trimester scan at 32 to 35 weeks. Isolated sonographic findings of choroid plexus cysts and echogenic intracardiac foci were excluded. Lethal anomalies and those requiring immediate surgical intervention at birth were considered major structural anomalies. All scans were performed by a single sonologist certified by the Fetal Medicine Foundation. All neonates were examined at birth by a pediatrician. Results. Our study included 1370 fetuses. Six cases of aneuploidy (0.4%) were detected. The first‐trimester scan detected 5 of 6 cases of aneuploidy (83%), confirmed by karyotype. There were 36 cases of structural fetal anomalies (2.6%); 20 (1.5%) were major anomalies. The first‐trimester scan detected 16 of 36 (44%); 20 (56%) were identified by second‐ or third‐trimester scans. The first‐trimester scan detection rate for major structural anomalies was 14 of 20 (70%). The 5 that were missed by the first‐trimester scan were detected by a second‐trimester scan. Conclusions. Our study emphasizes the importance of the first‐trimester scan in the early detection of aneuploidy and structural fetal anomalies. In this small unselected low‐risk population, the first‐trimester scan detected 83% of aneuploidies and 70% of major structural anomalies. Our results are comparable to previously published studies from other centers and further exemplify the invaluable role of the first‐trimester scan in the early detection of aneuploidy and structural anomalies in an unselected low‐risk population.

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

Objective. The purpose of this series was to determine the sensitivity of ultrasonography in early gestation (UEG) using nuchal translucency (NT) and the 4‐chamber view (4CV) in the early diagnosis of congenital heart defects (CHDs). Methods. This was a retrospective chart review of all patients presenting for UEG between 2002 and 2009. At our center, a survey of fetal anatomy is performed at the time of the NT assessment at 11 weeks to 13 weeks 6 days. A second‐trimester scan (STS) is done at 20 to 23 weeks and a third‐trimester scan at 32 to 35 weeks. Suspected cases of CHDs were evaluated by a pediatric cardiologist. All neonates were examined at birth by a pediatrician, and when clinically indicated, fetal echocardiography was performed. Results. A total of 1370 fetuses were scanned. Congenital heart defects were identified in 8 (0.6%). Nuchal translucency was above the 95th percentile for gestational age (GA) in 6 of 8, and the 4CV was abnormal in 6 of 8. Ultrasonography in early gestation detected 75% fetuses with CHDs, and 25% were detected by an STS. Conclusions. Our study emphasizes the importance of UEG in the detection of CHDs. In this small unselected low‐risk population, UEG detected 75% of CHDs. Nuchal translucency was above the 95th percentile for GA, the 4CV was abnormal, or both in all 8 cases with CHDs.

Development of catheter-based treatment of patent ductus arteriosus: a medium-sized centre experience.

BACKGROUND Despite the availability of effective devices, percutaneous closure of patent ductus arteriosus (PDA) can be challenging in some situations. AIM To describe our initial experience of percutaneous PDA closure. METHODS Between 2001 and 2007, 73 consecutive patients aged 3 months to 70 years underwent transcatheter PDA closure. An Amplatzer duct occluder (ADO) was chosen for ducts greater than 2 mm (n=50) and a Detachable coil (DC) for smaller ducts (n=23). RESULTS The diameter of the ducts ranged from 1 to 7.2 (mean 2.9+/-1.3) mm. The prostheses were implanted successfully in all patients. The complete closure rate reached 98% in the ADO group and 100% in the DC group at 12 months. Four (5.4%) patients showed asymptomatic device protrusion: three patients (5, 6 and 10 kg) into the aortic isthmus and one patient (7 kg) into the pulmonary artery (PA). One patient (7 kg) experienced transient severe bradycardia due to pulmonary air embolism. Another patient (3.3 kg) had a permanent asymptomatic occlusion of the femoral artery. In a third patient (17 kg), the ADO migrated asymptomatically into the descending aorta and was discovered 12 months later. CONCLUSION Even during the learning curve, percutaneous PDA closure can give excellent results. Strict adherence to protocols and careful follow-up assessments are mandatory. In small infants, the use of the ADO may lead to obstruction in the aorta or PA, or to device migration. Cautious surveillance for untoward events is essential, especially in small infants with large ducts.

Catheter closure of a recanalized vertical vein after repair of total anomalous pulmonary venous connection

The vertical vein is sometimes left open in repair of total anomalous pulmonary venous connection. It usually closes later but can remain patent leading to a significant shunt. We describe a recanalized vertical vein in a 7‐year‐old having undergone repair in infancy. It was closed using an Amplatzer device.

Are There Head Volume Alterations at 11 to 14 Weeks in Fetuses with Congenital Heart Defects? A First Trimester Case Series

Objective This study aims to assess head volume (HV) alterations at 11 to 14 weeks in fetuses with congenital heart defects (CHD). Methods A retrospective case–control study on 100 normal and 26 CHD fetuses was conducted. The fetuses had a first trimester scan with volume data sets stored from which HV was calculated. The mean HV and HV as a function of crown–rump length (CRL) in normal fetuses were compared with established normograms. Mean HV, HV as a function of CRL, and HV/CRL were compared between normal and CHD fetuses. Nonparametric Kruskal–Wallis H test was used with p < 0.05 considered significant. Results Overall, 83 normal and 19 CHD fetuses were included. The mean HV and HV as a function of CRL in the normal fetuses were comparable to what has been established (p = 0.451 and 0.801, respectively). The mean HV was statistically smaller in fetuses with CHD, particularly those with hypoplastic left heart (HLH): 10.7 mL in HLH versus 13.0 mL in normal fetuses (p = 0.043). The HV/CRL was statistically smaller in fetuses with CHD (p = 0.01). Conclusion Despite the small sample size, our case series suggests that alterations in HV may potentially be apparent as early as 11 to 14 weeks in CHD fetuses, particularly those with HLH. Larger prospective studies are needed to validate our findings.