Erich J. Grethel

Prenatal and postnatal management of a patient with pentalogy of cantrell and left ventricular aneurysm: A case report and literature review

Introduction: Omphalocele is often associated with cardiac diverticulum in the pentalogy of Cantrell, however a prenatal diagnosis of omphalocele has not been described with a broad-based, thin-walled aneurysm of the ventricular wall in a surviving patient. Case Report: A case of omphalocele with Morgagni hernia and left ventricular aneurysm diagnosed at 21 weeks, 6 days’ gestational age is reported. Initial ultrasound examination demonstrated the cardiac defect and subsequent ultrasounds revealed the abdominal wall defect. Prenatal monitoring included serial ultrasound and echocardiography. A viable fetus was delivered via cesarean section at 37 weeks’ gestational age. The omphalocele and Morgagni hernia were repaired on the infant’s 4th day of life. The cardiac defect continues to be monitored with echocardiography at 15 months of age. Discussion: The case is discussed along with a short review of the literature of midline thoracoabdominal defects and left ventricular apical aneurysms.

Prognostic role of tumor-head volume ratio in fetal sacrococcygeal teratoma

Objective: To evaluate the ability of a tumor-head volume ratio to predict outcome and incidence of hydrops in fetuses with sacrococcygeal teratoma. Methods: Seventy-one sonograms were reviewed retrospectively from 28 fetuses with sacrococcygeal teratoma managed in our institution. Head volume (HV) and total tumor volume were calculated from sonograms. Amount of cystic tumor was estimated to determine solid tumor volume (STV) for the STV/HV ratio. Results: Twenty percent of sonograms with STV/HV <1 and 97.3% with STV/HV >1 were associated with 1 or more abnormal sonographic signs (p = 0.000). Overall mortality was 11/27 (41%). There was no mortality in fetuses with a ratio of <1, while 11/18 (61%) of fetuses with ratio >1 died (p = 0.003). Conclusion: The STV/HV ratio may be used to identify fetuses with a high risk of a poor outcome due to high-output cardiac failure and hydrops, and may help guide management.

Congenital diaphragmatic hernia associated with spinal anomalies

OBJECTIVE: Increased mortality is seen in patients with congenital diaphragmatic hernia who have associated anomalies, such as cardiac defects. We reviewed our series of patients with congenital diaphragmatic hernia and spinal anomalies to evaluate if their prognosis was altered. METHODS: We examined our institutional database from August 1995 to August 2005, examining 679 cases of congenital diaphragmatic hernia, identifying all fetuses and newborns with congenital diaphragmatic hernia and spinal anomalies. Patients who had both congenital diaphragmatic hernia and spinal anomalies were identified by prenatal ultrasound reports, postnatal radiographs, operative notes, and pathology reports. RESULTS: Seven patients were identified in the fetal or neonatal period with concomitant diagnoses of congenital diaphragmatic hernia and spinal anomalies. All patients had normal karyotype analysis. Six of these patients had both defects diagnosed using prenatal ultrasonography. All patients died before hospital discharge. CONCLUSION: Although the numbers are limited in our series, patients with congenital diaphragmatic hernia and spinal anomalies have a dismal prognosis. This finding has significant implications for prenatal counseling. LEVEL OF EVIDENCE: III

Vascular Endothelial Growth Factor Isoform and Receptor Expression During Compensatory Lung Growth

BACKGROUND Vascular endothelial growth factor (VEGF) is required for blood vessel formation during lung growth and repair. Alteration of VEGF isoform expression has been demonstrated in response to fetal tracheal occlusion and in models of lung injury. The purpose of this study was to investigate VEGF expression during compensatory lung growth in the mouse. METHODS Under general anesthesia, adult mice underwent left thoracotomy with (n = 5) or without (sham, n = 5) pneumonectomy. The right lungs were harvested at 1, 3, and 7 d after the operation. Lung-to-body weight ratio as well as total DNA and protein content were measured. VEGF protein expression was analyzed by Western blot and ELISA. VEGF isoform expression was evaluated using semi-quantitative PCR followed by Imagequant optical densitometry. Values were compared by Students t-test and ANOVA using Fishers protected least significant difference post-hoc test where appropriate. RESULTS Compensatory lung growth was observed as measured by increases in right lung-to-body weight ratio and in DNA and protein content. Total VEGF RNA and protein expression did not change after pneumonectomy. However, on post-operative day 1, there was a decrease in the relative percentage of VEGF188 mRNA (P < 0.01), and an increase in the relative percentage of VEGF164 mRNA (P = 0.05). At 3 d postpneumonectomy, low relative VEGF188 expression persisted (P < 0.05), VEGF164 expression normalized, and relative VEGF120 expression increased (P < 0.01). Isoform expression in the pneumonectomy animals was identical to sham animals by the seventh d. There were no differences observed in VEGF receptor expression. CONCLUSION During compensatory lung growth, we have observed an early postoperative reversion of VEGF isoform expression to the pattern seen during fetal lung development and in lung injury models.

Does Congenital Diaphragmatic Hernia Associated with Bronchopulmonary Sequestration Portend a Better Prognosis

Introduction: Congenital diaphragmatic hernia (CDH) continues to be a devastating disease in the newborn population, with well-documented morbidity and mortality. Bronchopulmonary sequestration is a separate congenital defect that has been associated with CDH. While the association of sequestration with CDH has been reported to be as high as 30–40%, the prognosis associated with the two simultaneous defects is unknown. We reviewed our experience to evaluate if prognosis was better in the CDH infants with associated bronchopulmonary sequestration. Methods: Institutional approval was obtained. Our institutional database was examined from August 1995 to August 2005, identifying all mothers carrying fetuses with pulmonary masses and/or CDH and all neonates treated with bronchopulmonary sequestration and/or CDH. Patients who had both CDH and sequestration were identified by prenatal ultrasound reports, postnatal radiographs, and operative and pathology reports. Results: 16 patients were identified in the fetal or neonatal period with concomitant diagnoses of CDH and bronchopulmonary sequestration. Of those proceeding to delivery, 6 expired and 6 survived. The presence of liver herniation and low lung-to-head ratio on antenatal ultrasound correlated with mortality. However, 2 patients survived with very low lung-to-head ratio that would usually be associated with 100% mortality at our institution. Two diagnoses of bronchopulmonary sequestration were reversed after final pathology revealed liver tissue. Conclusion: Given the limited series, we cannot conclude that bronchopulmonary sequestration confers an anatomic advantage to patients that have CDH. We did observe survivors in this group that, given their antenatal predictors of CDH severity, would ordinarily have dismal prognosis. The presence of a sequestration may be protective in a subset of patients with severe CDH, or may confound our antenatal predictors of disease severity in these patients.

Fetal surgery for congenital diaphragmatic hernia

Abstract:  Congenital diaphragmatic hernia (CDH) continues to account for significant mortality in neonates. Advances in postnatal therapies have reduced mortality rates in the less severely affected infants, though surviving infants continue to display significant comorbid conditions. The history of fetal treatment for CDH is a microcosm for the development of fetal therapy in general. This paper traces this history from early clinical observations and imaging advances to experimental animal studies and finally to safe human application and development of clinical trails. Encouraging recent results and improved outcomes lend credence to the idea than prenatal interventions may give clinicians and families more hope.

Contents Vol. 23, 2008

R. Achiron, Tel Hashomer N.S. Adzick, Philadelphia, Pa. L. Allan, London K.J. Blakemore, Baltimore, Md. T.-H. Bui, Stockholm F.A. Chervenak, New York, N.Y. T. Chiba, Tokyo Y. Chiba, Osaka W.H. Clewell, Phoenix, Ariz. J.E. De Lia, Milwaukee, Wisc. Y.M.D. Lo, Hong Kong J.A. Deprest, Leuven G.C. Di Renzo, Perugia M. Dommergues, Paris J.W. Dudenhausen, Berlin Y. Dumez, Paris N.M. Fisk, Herston, Brisbane A.W. Flake, Philadelphia, Pa. W.D.A. Ford, North Adelaide U. Gembruch, Bonn P.D. Gluckman, Auckland M. Hansmann, Bonn M.R. Harrison, San Francisco, Calif. J.C. Hobbins, Denver, Colo. L.K. Hornberger, San Francisco, Calif. E.R.M. Jauniaux, London M.P. Johnson, Philadelphia, Pa. C. Jorgensen, Copenhagen J.-M. Jouannic, Paris H.H.H. Kanhai, Leiden A. Kurjak, Zagreb P.M. Kyle, London S. Lipitz, Tel-Hashomer S. Mancuso, Roma G. Mari, Detroit, Mich. M. Martinez-Ferro, Buenos Aires P. Miny, Basel K.J. Moise, Houston, Tex. K.H. Nicolaides, London U. Nicolini, Milan L. Otaño, Buenos Aires Z. Papp, Budapest R. Quintero, Tampa, Fla. G. Ryan, Toronto J. Rychik, Philadelphia, Pa. G.R. Saade, Galveston, Tex. H. Sago, Tokyo W. Sepulveda, Santiago P. Stone, Auckland D.V. Surbek, Bern M. Tanemura, Nagoya S. Tercanli, Basel J.-L. Touraine, Lyon B.J. Trudinger, Westmead J.M.G. van Vugt, Amsterdam S.L. Warsof, Virginia Beach, Va. C.P. Weiner, Kansas City, Kans. R.D. Wilson, Philadelphia, Pa. R. Zimmermann, Zürich Clinical Advances and Basic Research