RESUMEN
PURPOSE: To evaluate the associated conditions and the outcome of atrioventricular septal defects (AVSD) detected in fetal life. MATERIALS AND METHODS: Retrospective review of all cases of AVSD detected prenatally between 1998 and 2006 in two tertiary referral centers in Germany. RESULTS: 246 cases of AVSD were detected in the study period: 129 (52.4 %) chromosomal anomalies; 72 (29.3 %) heterotaxy syndromes; 17 (6.9 %) non-chromosomal malformation syndromes; 16 (6.5 %) isolated complex cardiac malformations; 5 (2.0 %) singular extracardiac malformations; 7 (2.8 %) isolated AVSD. Chromosomal anomalies were detected significantly earlier in pregnancy (p < 0.01). Associated intracardiac malformations were present in 109/246 (44.3 %) cases. Fetuses with trisomy 21 were significantly associated with balanced ventricular morphology and isolated AVSD (p < 0.01). Among the 246 cases, 144 (58.5 %) underwent termination of pregnancy, 18 (7.3 %) died in utero, 17 (6.9 %) in the neonatal period and 19 (7.7 %) in infancy. Forty-eight children (19.5 %) survived with a mean follow-up of 34.94 +/- 18.6 months. After exclusion of lethal malformations, the survival rate among live births was 64.9 % (48 / 74). Fetuses with trisomy 21 had significantly better survival rates among continued pregnancies (p < 0.01) and significantly higher rates of successful biventricular repair among survivors who received their final corrective procedure (p < 0.01) than fetuses with normal karyotypes. CONCLUSION: Among fetuses with AVSD, those with trisomy 21 are detected earlier in pregnancy, have less distorted cardiac anatomy, higher rates of biventricular repair and better survival rates. Due to the limited sample size in euploid fetuses, it remains unclear whether this apparent protection afforded to Down syndrome accounts also for cohorts with isolated and balanced AVSD.
Asunto(s)
Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/embriología , Aborto Inducido/estadística & datos numéricos , Aberraciones Cromosómicas/embriología , Síndrome de Down/diagnóstico por imagen , Síndrome de Down/embriología , Síndrome de Down/mortalidad , Ecocardiografía , Femenino , Muerte Fetal , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/embriología , Cardiopatías Congénitas/mortalidad , Defectos del Tabique Interventricular/mortalidad , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Análisis de Supervivencia , SobrevivientesRESUMEN
We report the sonographic and autopsy findings in two sibling fetuses with autosomal recessive orofaciodigital syndrome (OFDS) Type IV (Mohr-Majewski) diagnosed at 11-13 weeks' gestation. The first-trimester anomaly scan showed a markedly increased nuchal translucency (NT) thickness in both fetuses (4.7 mm and 5.1 mm). Both fetuses had multiple anomalies involving the brain, cranium, heart and skeletal system and their karyotypes were normal. The pregnancies were terminated and the autopsies showed findings consistent with Mohr-Majewski syndrome. These cases show the overlap between OFDS Type II (Mohr) and lethal short-rib-polydactyly syndrome Type II (Majewski) and confirm both the autosomal recessive inheritance of the condition and our ability to diagnose it early in pregnancy using detailed fetal ultrasonography.
Asunto(s)
Medida de Translucencia Nucal , Síndromes Orofaciodigitales/diagnóstico por imagen , Aborto Terapéutico , Adulto , Diagnóstico Precoz , Femenino , Humanos , Masculino , Embarazo , Primer Trimestre del EmbarazoRESUMEN
Cholestasis in neonates and infants frequently confronts pediatricians and pathologists with diagnostic problems. A specific feature of the liver in neonates is the ability to react to different causative factors with a non-specific hepatitis-like picture, the so-called neonatal hepatitis. A diagnostic discrimination of the various diseases is histologically only possible with close attention to typical morphologic features. Thus, extrahepatic biliary obstructions, such as atresia or stenosis of the hepatic duct or choledochal cysts present with portal bile duct proliferation and signs of bile retention in the neoducts. In Alagille syndrome (arteriohepatic dysplasia), however, paucity of intrahepatic bile ducts is an important diagnostic feature. Metabolic disorders, such as fructosemia and galactosemia are additionally associated with steatosis. Knowledge of the clinical course and laboratory and imaging data are necessary to make the definitive diagnosis in synopsis with the morphologic findings and requires a close co-operation between the pediatrician and the pathologist.
Asunto(s)
Carcinoma Hepatocelular/patología , Carcinoma Neuroendocrino/patología , Colestasis/complicaciones , Neoplasias Hepáticas/patología , Adulto , Carcinoma Hepatocelular/cirugía , Carcinoma Neuroendocrino/cirugía , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Neoplasias Hepáticas/cirugíaAsunto(s)
Enfermedades Fetales/diagnóstico por imagen , Neoplasias Cardíacas/diagnóstico por imagen , Pericardio/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Adulto , Femenino , Neoplasias Cardíacas/complicaciones , Humanos , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/terapia , Pericardiocentesis , Embarazo , Diagnóstico Prenatal , Teratoma/complicaciones , UltrasonografíaRESUMEN
OBJECTIVE: To evaluate the conditions associated with absent ductus venosus (ADV) diagnosed by prenatal ultrasonography. METHODS: Retrospective review of 23 cases with ADV diagnosed in two tertiary referral centers with a general screening policy concerning Doppler assessment of the ductus venosus. The results are discussed together with 63 cases from a review of the literature. RESULTS: In 19 fetuses the umbilical vein connected to the portal sinus, while the remaining four fetuses had extrahepatic umbilical venous drainage. Associated anomalies were present in 15 out of 23 fetuses: complex malformation syndromes (n = 6), chromosomal anomalies (n = 4), isolated cardiac defects (n = 4) and isolated extracardiac anomalies (n = 1). Eight fetuses had either no associated anomalies or minor anomalies. Hydropic changes were present in 12 of the 23 fetuses. In common with the reviewed cases, the presence of cardiac malformations, complex non-chromosomal malformation syndromes and hydrops was significantly associated with intrauterine or postnatal death while the type of umbilical venous drainage was not significantly different between survivors and non-survivors. However, among fetuses with no or minor associated anomalies the outcome was significantly better in the group without liver bypass. CONCLUSIONS: ADV is significantly associated with fetal cardiac and extracardiac anomalies, aneuploidies and hydrops. Fetuses with liver bypass have an additional risk of developing congestive heart failure that significantly affects outcome, even if the fetal cardiovascular anatomy is otherwise normal. ADV without liver bypass seems to have a more favorable prognosis if it is not associated with other malformations.
Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Corazón Fetal/anomalías , Feto/irrigación sanguínea , Venas Umbilicales/anomalías , Aneuploidia , Edema/diagnóstico por imagen , Femenino , Insuficiencia Cardíaca/congénito , Humanos , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Venas Umbilicales/diagnóstico por imagenRESUMEN
OBJECTIVE: To evaluate the accuracy of the prenatal diagnosis of right isomerism and to assess possible diagnostic and prognostic markers. METHODS: Retrospective review of all cases of right isomerism identified between 1989 and 2003 in two tertiary referral centres in Germany. RESULTS: Among 21 foetuses, 16 had a correct prenatal diagnosis of right isomerism. 19 showed different types of viscerocardiac heterotaxy, 12 of them in combination with juxtaposition of vena cava inferior and aorta. 20 had cardiac defects, with a high prevalence of atrioventricular septal defect (CAVSD) (62 %), right outflow tract obstruction (48 %), anomalous pulmonary venous return (33 %) and double outlet right ventricle (29 %). 4 out of 6 cases with total anomalous pulmonary venous return were overseen on prenatal ultrasound. Only 6 children survived. The highest loss occurred in the neonatal period. Two out of 6 survivors underwent single ventricle palliation, while another two had a biventricular repair. One child is awaiting mitral valve replacement. The remaining case has no cardiac defect and lives with supraventricular re-entry tachycardia. Only the presence of CAVSD was significantly correlated with non-survival (p < 0.05). CONCLUSIONS: The prenatal diagnosis of right isomerism remains a difficult task. Important sonographic markers are viscerocardiac heterotaxy, complex cardiac malformations and juxtaposition of vena cava inferior and aorta. Special attention has to be paid to the pattern of pulmonary venous drainage, as it is often misdiagnosed. The mortality in neonates is high, especially in the presence of CAVSD. Survivors suffer from significant morbidity.
Asunto(s)
Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/embriología , Ultrasonografía Prenatal , Adolescente , Adulto , Autopsia , Ecocardiografía , Femenino , Estudios de Seguimiento , Lateralidad Funcional , Humanos , Recién Nacido , Edad Materna , Embarazo , Reproducibilidad de los Resultados , Estudios RetrospectivosRESUMEN
Intrapericardial teratoma is a rare tumour which may become life threatening when it causes mediastinal compression. Early sonographic detection and careful evaluation is necessary for further management. In this paper, we present a case with a large intrapericardial teratoma diagnosed in utero (25 + 0 weeks). After birth, 3D-echocardiography was particularly helpful in obtaining a comprehensive view of the three-dimensional structure of this complex tumour, in order to determine tumour extension and attachment before surgical excision. This case illustrates the opportunities which new, noninvasive echocardiographic tools create to aid therapeutic management and surgical therapy of critically ill patients.
Asunto(s)
Ecocardiografía/métodos , Neoplasias Cardíacas/diagnóstico por imagen , Neoplasias Cardíacas/cirugía , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Adulto , Cesárea , Femenino , Humanos , Hipertensión/etiología , Derrame Pleural/etiología , Embarazo , Teratoma/embriología , Ultrasonografía PrenatalRESUMEN
OBJECTIVE: To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. RESULTS: Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. CONCLUSIONS: PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.
Asunto(s)
Aberraciones Cromosómicas , Feto/anomalías , Ultrasonografía Prenatal/métodos , Vena Cava Superior/anomalías , Femenino , Edad Gestacional , Humanos , Embarazo , Ultrasonografía Doppler en ColorRESUMEN
We present two cases of upper extremity vascular malformation causing a high output state in the prenatal period. One fetus responded well to transplacental digitalis treatment. Both newborns had a Kasabach-Meritt sequence including anemia and thrombocytopenia. Postpartum treatment included successful interventional occlusion of the main feeding arteries and subsequent surgical removal of the tumor.
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Brazo/anomalías , Malformaciones Arteriovenosas/diagnóstico por imagen , Gasto Cardíaco Elevado/etiología , Feto/anomalías , Ultrasonografía Prenatal/métodos , Anemia/etiología , Brazo/irrigación sanguínea , Malformaciones Arteriovenosas/terapia , Oclusión con Balón/métodos , Gasto Cardíaco Elevado/tratamiento farmacológico , Cardiotónicos/uso terapéutico , Glicósidos Digitálicos/uso terapéutico , Femenino , Humanos , Recién Nacido , Embarazo , Trombocitopenia/etiologíaAsunto(s)
Enfermedades Fetales/diagnóstico por imagen , Pierna/diagnóstico por imagen , Linfangioma Quístico/diagnóstico por imagen , Adulto , Femenino , Enfermedades Fetales/patología , Humanos , Pierna/embriología , Linfangioma Quístico/patología , Ultrasonografía Prenatal/métodos , Venas Umbilicales/diagnóstico por imagen , Trombosis de la Vena/diagnóstico por imagenRESUMEN
Pulmonary interstitial emphysema (PIE) is a well-recognized severe complication of neonatal respiratory distress syndrome (RDS). However, its occurrence under spontaneous breathing conditions has been described rarely. We present a case of PIE of the left upper lung lobe in an extremely low birth weight infant. Recurrent episodes of spontaneous pneumothorax led to the diagnosis, which was confirmed by histopathology. Plain chest X-ray did not show typical signs of PIE, whereas extra-alveolar air accumulation could be visualized by helical computed tomography (CT)-scan. We stress the role of predispositional factors increasing the risk of PIE development in spontaneous breathing preterm infants.
Asunto(s)
Enfermedades del Prematuro/diagnóstico , Recién Nacido de muy Bajo Peso , Enfermedades Pulmonares Intersticiales/diagnóstico , Neumotórax/etiología , Enfisema Pulmonar/diagnóstico , Tomografía Computarizada Espiral , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Enfermedades del Prematuro/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/complicaciones , Enfermedades Pulmonares Intersticiales/diagnóstico por imagen , Enfisema Pulmonar/complicaciones , Enfisema Pulmonar/diagnóstico por imagen , Recurrencia , Factores de RiesgoAsunto(s)
Neoplasias Gástricas/patología , Teratoma/patología , Gastroscopía , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/cirugía , Teratoma/diagnóstico , Teratoma/cirugíaRESUMEN
Congenital cystic adenomatoid malformation (CCAM) is one of the most frequent dysplasias of the lung. Diagnosis is often suspected in utero and urges obstetricians, pediatricians, and pediatric surgeons to make appropriate management decisions as to an optimal management for the affected patients. We report on a preterm baby with a gestational age of 33 weeks, suffering from hydrops fetalis and postnatal respiratory distress syndrome, a two-year old boy with clinical signs of a foreign body aspiration, and a seven-year old boy with a funnel chest. In each case, surgical resection was performed, the histology revealing CCAM. Our case report describes the broad clinical spectrum of CCAM. An algorithm is presented, helping to make diagnostic and therapeutic decisions.
Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico , Malformación Adenomatoide Quística Congénita del Pulmón/cirugía , Algoritmos , Bezoares/complicaciones , Bezoares/cirugía , Niño , Preescolar , Femenino , Humanos , Hidropesía Fetal/complicaciones , Recién Nacido , Recien Nacido Prematuro , Masculino , Embarazo , Síndrome de Dificultad Respiratoria del Recién Nacido/complicacionesRESUMEN
The diagnosis of Peutz-Jeghers syndrome is based on the occurrence of hamartomatous gastrointestinal polyps and perioral pigment spots. In view of the development of hamartomatous polyps in several syndromes and the variability of pigment spots in Peutz-Jeghers patients, identification of affected individuals is difficult. Recently, germline mutations in the STK11 gene have been reported as a molecular cause of Peutz-Jeghers syndrome. We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). Our data obtained in these patients and in those reported previously emphasize the diagnostic value of histological discrimination between different types of hamartomatous polyps and of molecular analysis, particularly in cases with no family history of the disease.
Asunto(s)
Mutación de Línea Germinal , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinasas/genética , Quinasas de la Proteína-Quinasa Activada por el AMP , Codón sin Sentido , Análisis Mutacional de ADN , Mutación del Sistema de Lectura , Humanos , Síndrome de Peutz-Jeghers/diagnósticoRESUMEN
BACKGROUND: Fetal heart block in the second and third trimesters may be caused by transplacental passage of auto-antibodies or cardiac defects. Little is known about the etiology of first-trimester fetal heart block. MATERIALS AND METHODS: Fetal heart block was diagnosed in four patients (negative antibody serology) referred for first-trimester sonographic evaluation of increased fetal nuchal fold thickness with bradycardia. Two-dimensional echocardiography was complemented by color Doppler flow imaging of the fetal heart. Fetal arrhythmia was verified by M-mode, pulsed wave Doppler and/or color M-mode echocardiography. RESULTS: All fetuses had congenital heart disease, atrioventricular valve regurgitation, heart block and edema. Autopsy confirmed heterotaxy in three cases (left atrial isomerism with atrial septal defect; left isomerism with double-outlet right ventricle, great artery malposition and ventricular septal defect. The third case had dextrocardia with atrioventricular canal defect and the fourth case dextrocardia with great artery transposition. CONCLUSION: First-trimester fetal bradycardia may result from heart block of the type associated with complex congenital heart disease. Accelerated edema formation in this setting may be the basis of nuchal edema formation. First-trimester fetal echocardiography offers the potential for early diagnosis and intervention in these cases with poor prognosis.
Asunto(s)
Corazón Fetal/diagnóstico por imagen , Bloqueo Cardíaco/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Adulto , Ecocardiografía , Femenino , Corazón Fetal/patología , Edad Gestacional , Bloqueo Cardíaco/etiología , Bloqueo Cardíaco/patología , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/patología , Humanos , Embarazo , Primer Trimestre del Embarazo , Ultrasonografía PrenatalRESUMEN
Duplications of the gastrointestinal tract are congenital anomalies seen in about 0.2% of all children. These include the rare gastric duplications. Latter diagnosis is usually made in the first months after birth on recurrent vomiting by detection of an abdominal tumor. The most important imaging modality is ultrasonography. The case of a prematurely born child weighing 1900 g is presented in whom at the age of three weeks a gastric duplication of the greater curvature was diagnosed and who was successfully treated by resection. The postoperative follow-up for 24 months was uncomplicated.
Asunto(s)
Quistes/congénito , Enfermedades del Prematuro/cirugía , Estómago/anomalías , Quistes/diagnóstico , Quistes/patología , Diagnóstico Diferencial , Diagnóstico por Imagen , Femenino , Gastrectomía , Humanos , Recién Nacido , Enfermedades del Prematuro/diagnóstico , Enfermedades del Prematuro/patología , Masculino , Embarazo , Estómago/patologíaRESUMEN
Sinusoidal dilatation is a hallmark of peliosis hepatis, a rare vascular disorder that can be either drug induced or of infectious origin. Here we report a patient with peliosis hepatis of unknown etiology. An hepato-pulmonary syndrome developed which was reversible following liver transplantation.
Asunto(s)
Enfermedades Pulmonares/diagnóstico , Peliosis Hepática/diagnóstico , Biopsia con Aguja , Niño , Femenino , Estudios de Seguimiento , Humanos , Hígado/patología , Pruebas de Función Hepática , Trasplante de Hígado/fisiología , Enfermedades Pulmonares/etiología , Enfermedades Pulmonares/terapia , Peliosis Hepática/etiología , Peliosis Hepática/cirugía , Portografía , Pruebas de Función RespiratoriaRESUMEN
Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.
Asunto(s)
Aberraciones Cromosómicas/diagnóstico por imagen , Cromosomas Humanos Par 18 , Cromosomas Humanos Par 21 , Ecocardiografía Doppler en Color , Cardiopatías Congénitas/diagnóstico por imagen , Ultrasonografía Prenatal , Amniocentesis , Velocidad del Flujo Sanguíneo , Muestra de la Vellosidad Coriónica , Aberraciones Cromosómicas/genética , Aberraciones Cromosómicas/fisiopatología , Trastornos de los Cromosomas , Femenino , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/fisiopatología , Humanos , Cariotipificación , Embarazo , Primer Trimestre del Embarazo , Segundo Trimestre del Embarazo , Reproducibilidad de los Resultados , Estudios Retrospectivos , Trisomía/diagnóstico , Trisomía/genética , Trisomía/fisiopatología , Síndrome de Turner/diagnóstico por imagen , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologíaRESUMEN
Fetal echocardiography was performed using a high-frequency vaginal ultrasound probe in 114 singleton pregnancies between 11 and 16 weeks of gestation. The four-chamber view with both atria, atrioventricular valves and ventricles as well as the origin and double-crossing of aorta and pulmonary trunk could always be demonstrated from the 13th week onwards. In 12 of 13 cases, cardiac malformations were diagnosed in the first trimester. Only in one case was transabdominal echocardiography necessary at 20 weeks to make the diagnosis. In several cases, however, additional malformations were overlooked, in particular anomalies of the great arteries, such as coarctation of the aorta. Therefore, the accuracy of second-trimester transabdominal echocardiography is markedly higher. Because of the lower diagnostic accuracy, the high costs of equipment and the high training demanded of the examiner, first-trimester transvaginal echocardiography should be restricted to the high-risk fetus, i.e.: (1) Cases with other fetal anomalies very often associated with cardiac defects, such as nuchal edema and hygroma, non-immune hydrops, omphalocele, situs, inversus, or persisting arrythmia; (2) High-risk families with one or more first-degree relatives with cardiac defects are either inherited by Mendelian rules alone, or as part of a rare syndrome; and (3) In pregestational diabetes of the mother.Thus, many severe cardiac defects can be detected or excluded in the first trimester, reducing maternal anxiety. In these high-risk cases, second-trimester echocardiography using the transabdominal route should always be performed because of its distinctly higher diagnostic accuracy.