Usefulness of Postnatal Echocardiograms in Patients with Omphaloceles Who Previously Had a Normal Fetal Echocardiogram.

INTRODUCTION: Neonates with omphaloceles routinely have a transthoracic echocardiogram (TTE) performed due to a high association with congenital heart defects (CHD). The utility of a TTE in these patients with a normal fetal echocardiogram is unknown. The primary objective of this study was to determine whether a critical CHD diagnosis was missed in patients with an omphalocele who had a normal fetal echocardiogram. The secondary objective of the study was to determine whether any CHD diagnosis was missed postnatally when a fetal echocardiogram was read as normal. METHODS: A retrospective chart review was performed of patients with omphaloceles born between January 1, 2008, and June 30, 2020. Patients were included if they had a fetal echocardiogram that was read as normal and had a postnatal echocardiogram performed. Baseline demographics, postnatal data echocardiographic findings, and hospital course were collected. Critical CHD was defined as CHD requiring neonatal cardiac intervention. RESULTS: Fifty-six fetal echocardiograms on patients with omphaloceles were performed, of which 24 patients met the inclusion criteria. No patient was diagnosed with a critical CHD postnatally (negative predictive value [NPV] = 100%). Two patients were diagnosed with ventricular septal defects (VSD) postnatally (NPV = 91.7%). One of the VSDs required closure with a patch at 4 months of life, while the other, a small muscular VSD, closed spontaneously within the first year of life. Both patients had a murmur on exam during their initial hospital stay. The patient that required surgery also had an abnormal electrocardiogram and chest X-ray. There were no mortalities due to cardiac causes in these patients. CONCLUSION: Critical CHD was not missed on any patient with an omphalocele who had a normal fetal echocardiogram. All other patients with omphaloceles who had CHD diagnosed postnatally had an abnormal clinical finding on postnatal evaluation. The routine performance of a postnatal TTE in patients with an omphalocele who had a normal fetal echocardiogram may not be needed in those with a normal clinical workup. Further studies evaluating echocardiographic imaging recommendations are needed to maximize care and optimize resource allocation in this complex patient population.

Initial fetal to initial postnatal echocardiogram in uncomplicated atrioventricular septal defects: Do significant changes occur?

BACKGROUND: Yield of serial echocardiography in fetuses with atrioventricular septal defects (fAVSD) has not been well defined. The goal of this study was to document if any major changes occurred from initial fetal to initial postnatal echocardiogram in uncomplicated fAVSD. METHODS: fAVSD were excluded if initial fetal scan documented complex CHD or any concerns. Changes in ventricular function, valvular regurgitation, or diagnosis between first fetal and first postnatal echocardiogram were recorded. RESULTS: Fifty-seven fAVSD met criteria. Ninety-six fetal echocardiograms were done in 57 patients. Initial fetal scan was performed at 24.3 ± 3.7 weeks of estimated gestational age. All fAVSD had normal function, 38 had no atrioventricular valve regurgitation (AVVR), and 19 had mild AVVR. First postnatal echocardiogram was performed at 6.3 ± 15.3 days. Fifty-six patients had normal function, 1 patient had mild dysfunction, 16 patients had no AVVR, 36 had mild AVVR, and 5 had moderate AVVR. Three patients (5%) had an improvement in AVVR by one degree, 27 patients (47%) had no change in AVVR, 24 patients (42%) had an increase in AVVR by one degree, and 3 patients (5%) had an increase in AVVR by two degrees. There was no major missed anatomical diagnosis from first prenatal to first postnatal echocardiogram. CONCLUSION: In fAVSD that had no concerns on their initial fetal echocardiogram, the majority of patients had no major changes noted between their initial fetal echocardiogram and their first postnatal echocardiogram. Repeat fetal echocardiograms may not necessarily be needed in this cohort of patients.

Ultrasound prediction of growth abnormalities in fetuses with gastroschisis.

OBJECTIVE: We seek to determine whether (1) mean abdominal circumference (AC) of fetuses with gastroschisis is smaller than published normative values, (2) diagnosis of AC ≤ 2.5th percentile is supported by postnatal diagnosis of small-for-gestational age (SGA) and (3) adverse neonatal outcomes are more common in fetuses affected by gastroschisis with a sonographically measured small AC. METHODS: Retrospective review of pregnancies complicated with gastroschisis between 2000 and 2008. Patient demographics, method of closure, length of stay, use of ventilator support and gastrointestinal complications were compared. RESULTS: Seventy-four fetuses were identified with 368 ultrasound observations. Mean AC of fetuses with gastroschisis fell between the 2.5th and 50th percentile for gestational age. Thirty patients had AC measurements ≤ 2.5th of which 50% were SGA at delivery. Eleven of the 74 fetuses were diagnosed with intrauterine growth restriction (IUGR) and all were SGA. Birth weight was lower in those with a small AC (2104 g vs. 2665 g, p<0.001). There were no other differences in outcomes. CONCLUSION: AC values fell within the normal range of normative curves. Fifty percent of fetuses with small AC were SGA at birth. Neonatal outcomes in patients with small AC are similar to those with a normal AC.

Magnetic resonance imaging versus ultrasonography for the in utero evaluation of central nervous system anomalies.

OBJECT: The use of fetal MR imaging for the in utero evaluation of pathological conditions of the CNS is widely accepted as an adjunct to fetal ultrasonography studies. Magnetic resonance imaging is thought to characterize CNS anomalies better, and to provide a more exact diagnosis and accurate prognosis. The purpose of this study was to determine the role of and indications for fetal MR imaging in evaluating fetuses with different CNS abnormalities that were seen initially on prenatal sonograms. METHODS: Over a 3-year period, fetuses with prior sonographic evidence of CNS abnormalities who consequently received prenatal MR imaging at Columbus Nationwide Children's Hospital within 2 weeks of the fetal ultrasonography study were included in this study. For each patient, radiological reports from both studies were reviewed, analyzed, and compared with the findings at postnatal imaging or physical examination. Results of the 2 modalities were then compared in terms of diagnostic accuracy. RESULTS: Twenty-six fetuses were included in this study on the basis of an in utero sonogram showing a CNS anomaly. Their gestational age ranged from 17 to 35 weeks, with a mean of 25 weeks at the time of fetal ultrasonography. Hydrocephalus was identified in 16 fetuses, 6 had evidence of a spinal dysraphic defect, 2 had holoprosencephaly, 1 had an encephalocele, and 1 had multiple body abnormalities requiring detailed CNS evaluation. Twenty-five of the fetuses were correctly evaluated as having abnormal CNS findings on both fetal ultrasonography and fetal MR imaging. Fetal ultrasonography provided a correct prenatal diagnosis in 20 cases, whereas fetal MR imaging was correct in 22 cases. There were 9 cumulative false-positive results for fetal ultrasonography and 7 for fetal MR imaging, whereas for false-negative results there were a total of 34 and 19, respectively. CONCLUSIONS: Fetal MR imaging is more sensitive in detecting fetal CNS abnormalities, but its ability to provide a correct prenatal diagnosis is only marginally superior to fetal ultrasonography. Moreover, fetal MR imaging is not exempt from misdiagnosis, and still shows a significantly high rate of false-negative results. Particularly for spinal dysraphic defects, fetal MR imaging does not seem to add important diagnostic or prognostic details when compared with fetal ultrasonography.

Tissue Doppler changes in three neonates with congenital diaphragmatic hernia.

Three neonatal patients with left-sided congenital diaphragmatic hernia (CDH) were evaluated with echocardiography pre- and postsurgical correction using tissue Doppler imaging (TDI). Tissue Doppler imaging parameters demonstrated improvement after surgery in both left- and right-sided myocardial performance index (MPI); furthermore, both left and right MPI correlated with clinical course in these three patients. These studies suggest that TDI measurements may be prognostic in nature in this patient population, although further studies are needed using this modality in patients with CDH to determine if it may be useful in guiding treatment and to further delineate the reasons why left ventricular function improves.