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.

Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern.

OBJECTIVES: The purposes of this study were (1) to identify cases of limb abnormalities identified before 15 weeks and correlate with outcomes and (2) to assess first-trimester nuchal translucency examinations to determine how frequently the upper and lower limbs were identified. METHODS: A retrospective review was conducted of sonographic studies up to 15 weeks' gestational age from 2003 to 2010 at our high-risk fetal center. Data were collected regarding fetal gestational age, limb abnormalities, associated anatomic abnormalities, pregnancy outcomes, karyotypes, autopsy results, and the utility of transabdominal sonography, transvaginal sonography, and 3-dimensional sonography. A retrospective analysis of 100 consecutive first-trimester examinations was also conducted to assess the sensitivity of transabdominal sonography in visualization of limb buds. RESULTS: A total of 15 cases were identified with a mean gestational age of 12 weeks 6 days. Club hand was the most common abnormality seen (8 cases), followed by absence of long bones (5 cases), a missing limb (5 cases), club foot (5 cases), shortening of long bones (2 cases), abnormal hands (2 cases), clenched hands (2 cases), and overlapping digits (1 case). Trisomy 18 was present in 9 cases. Transabdominal sonography allowed for detection of all limb buds in 100 consecutive nuchal translucency examinations and 9 of 15 cases of limb abnormalities. Four of the cases resulted in fetal death, and the remaining 11 cases were terminated. CONCLUSIONS: Fetal limb abnormalities can be detected on sonography before 15 weeks' gestational age and are often associated with serious congenital conditions, especially trisomy 18. Transabdominal sonography alone can show most of these abnormalities, although transvaginal and 3-dimensional sonography can provide additional information. Targeted evaluation of fetal limbs during sonography before 15 weeks should be considered in high-risk populations.