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1.
J Pediatr ; 260: 113530, 2023 09.
Article in English | MEDLINE | ID: mdl-37268035

ABSTRACT

OBJECTIVE: To describe the types of congenital heart disease (CHD) in a congenital diaphragmatic hernia (CDH) cohort in a large volume center and evaluate surgical decision making and outcomes based on complexity of CHD and associated conditions. STUDY DESIGN: A retrospective review of patients with CHD and CDH diagnosed by echocardiogram between 01/01/2005 and 07/31/2021. The cohort was divided into 2 groups based on survival at discharge. RESULTS: Clinically important CHD was diagnosed in 19% (62/326) of CDH patients. There was 90% (18/20) survival in children undergoing surgery for both CHD and CDH as neonates, and 87.5 (22/24) in those undergoing repair initially for CDH alone. A genetic anomaly identified on clinical testing was noted in 16% with no significant association with survival. A higher frequency of other organ system anomalies was noted in nonsurvivors compared with survivors. Nonsurvivors were more likely to have unrepaired CDH (69% vs 0%, P < .001) and unrepaired CHD (88% vs 54%, P < .05), reflecting a decision not to offer surgery. CONCLUSIONS: Survival was excellent in patients who underwent repair of both CHD and CDH. Patients with univentricular physiology have poor survival and this finding should be incorporated into pre and postnatal counseling about eligibility for surgery. In contrast, patients with other complex lesions including transposition of the great arteries have excellent outcomes and survival at 5 years follow-up at a large pediatric and cardiothoracic surgical center.


Subject(s)
Heart Defects, Congenital , Hernias, Diaphragmatic, Congenital , Transposition of Great Vessels , Infant, Newborn , Humans , Child , Hernias, Diaphragmatic, Congenital/complications , Transposition of Great Vessels/complications , Survival Rate , Heart Defects, Congenital/complications , Retrospective Studies , Decision Making
5.
Rev. argent. radiol ; 75(4): 335-339, oct-dic. 2011. ilus, tab
Article in Spanish | LILACS | ID: lil-634854

ABSTRACT

Introducción. El pie bot es una de las anomalías músculo- esqueléticas congénitas más frecuentes. La utilización de la ecografía para la detección prenatal del pie bot ha avanzado rápidamente en la última década, pero las publicaciones han presentado una gran variabilidad de opiniones en cuanto a la eficacia del método, la asociación con otras patologías y la necesidad de realizar amniocentesis para análisis del cariotipo. Objetivos. Analizar en qué porcentaje de pacientes se realizó diagnóstico prenatal del pie bot, evaluar la opinión de las madres al respecto y aclarar algunos conceptos revisando la bibliografía disponible a la fecha. Métodos. Se analizó retrospectivamente un grupo de 54 pacientes consecutivos con diagnóstico de pie bot tratados en el período enero 2008-junio 2010. Se documentaron el número de ecografías realizadas durante el embarazo, el tipo de ecografía realizada (2D, 3D o 4D) y la semana de gestación al momento del diagnóstico. Las madres fueron encuestadas a fin de conocer su opinión con respecto al diagnóstico prenatal de esta deformidad. Resultados. Se realizaron 3,2 ecografías promedio durante el embarazo (r, 1-7). En el 25% (13/52) de los casos se realizó diagnóstico prenatal. El diagnóstico fue realizado en 7 casos con ecografía 2D, en 4 con 3D y en 2 con 4D, y en promedio se efectuó a la semana 22 (r, 20-28). En ningún paciente se llevó a cabo diagnóstico temprano, en 12 fue tardío y en 1 muy tardío. Conclusión. El diagnóstico prenatal permite a los padres de prepararse psicológicamente y asesorarse sobre la patología. En nuestra serie, el 90,4% se mostró a favor de conocer previamente el diagnóstico.


Introduction. Clubfoot is one of the most frequent congenital musculoskeletal anomalies. The use of ultrasound for prenatal detection of clubfoot has advanced rapidly in the last decade, but publications report a great variability in opinions regarding the effectiveness of the method, the association with other diseases and the need to perform amniocentesis analysis of the karyotype. Objectives. To analyze the percentage of patients with prenatal diagnosis of clubfoot, evaluate mothers' opinion on this issue, and clarify some concepts by reviewing the literature available to date. Methods. We retrospectively analyzed a group of 54 consecutive patients diagnosed with clubfoot treated from January 2008 to June 2010. We documented the number of ultrasounds performed during pregnancy, type of ultrasound (2D, 3D or 4D) and the gestational week at diagnosis. Mothers were surveyed to ascertain their opinion with regard to prenatal diagnosis. Results. An average of 3.2 ultrasounds was performed during pregnancy (r, 1-7). Prenatal diagnosis was performed in 25% of cases (13/52 patients). Diagnosis was performed in 7 cases with 2-D ultrasound in 4 with 3-D and in 2 with 4-D. Diagnosis was performed on average at week 22 (r, 20- 28). No patient was diagnosed early, 12 were diagnosed late and 1 very late. Conclusion. Prenatal diagnosis gives parents the opportunity for psychological preparation and counseling regarding clubfoot. In our series, 90.4% supported prenatal diagnosis.

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