Anomalous Pulmonary Venous Return: Insights Into Prenatal Detection.

OBJECTIVES: To review all cases of total anomalous pulmonary venous return (TAPVR) or partial anomalous pulmonary venous return (PAPVR) identified prenatally or postnatally at a single institution and to identify factors that may lead to a correct or missed diagnosis in both high- and low-risk fetuses on screening examinations. METHODS: Fetal images from 16 cases of prenatally or postnatally diagnosed T/PAPVR were retrospectively reviewed to analyze factors that influenced interpretations and diagnoses. RESULTS: Sixteen diagnoses of T/PAPVR were made, with a final number of 10 confirmed cases, 1 of which was PAPVR. Ten fetuses with a presumptive diagnosis of T/PAPVR before delivery were at an average gestational age of 24.7 weeks, with 5 cases diagnosed postnatally. None of the diagnoses of isolated TAPVR were made during a screening examination. Twelve of the pregnancies were complicated by complex cardiac defects, including 6 with heterotaxy syndromes. Of the 5 abnormal cases identified in the postpartum period, 3 had isolated TAPVR. In the 3 patients with isolated defects, prenatal echocardiography was not performed; the anatomy scan interpretations were confounded by multiple factors. In retrospect, there was no obvious sonographic evidence of TAPVR in these patients; however, color flow Doppler imaging of the pulmonary veins was not performed on any of them. CONCLUSIONS: Although fetal echocardiography has improved the overall detection of TAPVR or PAPVR, this abnormality continues to elude prenatal diagnosis during screening in both low- and high-risk patients. We hypothesize that the use of color flow Doppler imaging in the 4-chamber view may assist in diagnosing TAPVR in screening low-risk patients, especially in those with difficult scans.

Improved prenatal detection of congenital heart disease in an integrated health care system.

The reported prenatal detection rates (PDRs) for significant congenital heart disease (sCHD) have been suboptimal, even in the current era. Changes in prenatal ultrasound policy and training may lead to improved prenatal detection of sCHD. This study analyzed the results of a policy to assess fetal cardiac outflow tracts shown by screening prenatal ultrasound using the electronic medical record (EMR). During a 6-year period, fetuses and patients younger than 1 year with sCHD were identified. The EMR was used to gather detection and outcome data. As an internal control within the same health care system, the PDR of only the surgical cases was compared with that of a similar group in which documentation of the fetal cardiac outflow tracts was not standard policy. Among 25,666 births, sCHD was identified in 93 fetuses or patients, yielding an incidence of 3.6 per 1,000 births. The PDR was 74.1%. Detection after birth but before discharge was 20.4%, and detection after discharge was 5.4%. A significant improvement in the PDR of sCHD was found when a concerted effort was made to obtain fetal cardiac outflow tract views during pregnancy screening (59.3 vs. 28%). Within an integrated health care system and with the use of an EMR, a PDR of 74% can be obtained, and 94% of sCHD can be detected before discharge. A concerted program that includes documentation of fetal cardiac outflow tracts in the pregnancy screening can result in improved PDR of sCHD.

Congenital cardiac anomalies: prenatal readings versus neonatal outcomes.

OBJECTIVE: The purpose of this study was to determine the variation between prenatal and postnatal diagnosis of congenital cardiac lesions diagnosed by both fetal center primary physicians and fetal pediatric cardiologists at a single tertiary referral center in the United States and evaluate why cases were misdiagnosed. METHODS: A retrospective review of all cardiac abnormalities identified prenatally by level II sonography at a tertiary referral fetal center between January 2006 and December 2008 was performed to include any patient with a fetal cardiac abnormality and with a documented autopsy or neonatal follow-up. Congenital heart disease diagnoses were classified as correct, incorrect, or incorrect but within the same spectrum of disease. Cases of correct diagnosis by primary physicians and pediatric cardiologists were compared. RESULTS: Sixty patients with fetal heart abnormalities were identified among 8894 patients who had level II sonography. The combined detection rate for fetal heart abnormalities for both primary physicians and pediatric cardiologists together was 81.7%. The detection rates of congenital heart disease were not statistically different between primary physicians and pediatric cardiologists: 77.9% (46 of 59) versus 85.0% (34 of 40; P = .3). The most common cardiac abnormalities misdiagnosed in our study population included pulmonic stenosis, ventricular septal defect, myxoma, truncus arteriosus, and coarctation of the aorta. CONCLUSIONS: Congenital heart disease is misdiagnosed in tertiary care centers by both pediatric cardiologists and fetal imaging specialists. We believe that this occurrence is related to multiple factors, including evolution of congenital heart disease, maternal body habitus, associated congenital anomalies, decreased amniotic fluid volume, gestational age at evaluation, imaging techniques, and, most importantly, the experience of the sonographer.

Successful transabdominal subxiphoid pericardiostomy to relieve chronic pericardial effusion in a Sumatran orangutan (Pongo abelli).

A 46-yr-old female Sumatran orangutan (Pongo abelli) was first diagnosed with pericardial effusion in July 2006. Pericardiocentesis performed in January 2007 only provided short-term relief. In May 2007, a pericardial-peritoneal window was created using a transabdominal subxiphoid pericardiostomy technique, providing immediate and long-term relief. Seven months later, the orangutan was euthanized due to worsening heart failure, and no pericardial effusion was present. Transabdominal subxiphoid pericardiostomy offers a straightforward surgical approach that can provide significant relief in cases of chronic pericardial effusion in great apes.

Maternal psychological impact of fetal echocardiography.

The maternal psychological impact of fetal echocardiography may be deleterious in the face of newly diagnosed congenital heart disease. This questionnaire-based study prospectively examined the psychological impact of both normal and abnormal fetal echocardiography. Normal fetal echocardiography decreased maternal anxiety, increased happiness, and increased the closeness women felt toward their unborn children. In contrast, when fetal echocardiography detected congenital heart disease, maternal anxiety typically increased, and mothers commonly felt less happy about being pregnant. However, among women who had recently delivered infants with congenital heart disease, those who had had fetal echocardiography during the pregnancy felt less responsible for their infants' defects and tended to have improved their relationships with the infants' fathers after the prenatal diagnosis of congenital heart disease. Further study of the psychological and medical impact of fetal echocardiography will be necessary to define and optimize the clinical value of this powerful diagnostic tool.

Balloon angioplasty and stenting of multiple intralobar pulmonary arterial stenoses in adult patients.

Balloon angioplasty and stent placement for pulmonary arterial stenoses in children are well-established therapies. In contrast, management of isolated peripheral pulmonary arterial stenoses in adults remains relatively unexplored. Four women (ages 18-63 years) with multiple discrete intralobar pulmonary arterial stenoses were treated with balloon angioplasty. Initially, 4-5 stenoses were dilated in each patient. The mean minimum diameter of the stenoses increased from 1.3 to 3.1 mm (P < 0.001), and the mean ratio of right ventricular to aortic systolic pressure decreased from 0.92 to 0.62 (P < 0.05). Each patient had marked symptomatic improvement. However, three patients developed recurrence of symptoms 4-24 months after angioplasty, and two had angiographic evidence of restenosis at previously dilated sites. These restenoses were treated with repeat angioplasty or stent implantation (three stents in each patient). One of these two patients developed near-occlusive restenosis of the stents and had successful bilateral lung transplantation. The other patient had a third catheterization with successful implantation of three additional stents. The third patient with recurrent symptoms died 2 years later, without further intervention. Transcutaneous catheter therapy for multiple intralobar pulmonary arterial stenoses in adults is highly successful acutely, but restenosis is common within several months. For some patients, balloon angioplasty and stent implantation may provide definitive management, while for others these procedures may serve as a bridge to lung transplantation.