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Case report. Longitudinal Echo Monitoring in Fetus with Phenotypical Marfan Syndrome, Helpfull for Perinatal Management - Case Presentation and Literature Review

cardiomegaly: echocardiographic findings and outcome in 19 cases. Fetal Diagn Ther 1994, 9: 92-104 15. Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M. Neonatal Marfan syndrome: a case report. J Paediatr Child Health 1999, 35: 321-323. 16. Ramaswamy P, Lytrivi ID, Nguyen K, Gelb BD. Neonatal Marfan Syndrome. Pediatr Cardiol 2006, 27: 763. 17. Stadié R, Geipel A, Breuer, J, Kohl T, Gembruch U, Berg C. Prenatal diagnosis of an isolated aneurysm of the ascending aorta. Ultrasound Obstet Gynecol 2006, 27: 233-234.

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Echocardiographic Methods of Fetal Heart Size Assessmentheart to Chest Area Ratio and Transversal Heart Diameter

. Prenat Cardio. 2015; 5(3): 6-8. 14. Slodki, M, Janiak, K, Zarkowska A, Forys S, Respondek-Liberska M. P04.06: Cardiomegaly in fetus: a powerful indicator of fetal and neonatal demise. Ultrasound Obstet Gynecol. 2009; 34:192. 15. Garrett WJ, Robinson DE. Fetal heart size measured in vivo by ultrasound. Pediatrics. 1970; 46(1): 25-7. 16. Devore GR. Three-dimensional and four-dimensional fetal echocardiography: a new frontier. Curr Opin Pediatr. 2005;17(5): 592-604. 17. Dolk H, Loane M, Garne E; European

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Emergency Cesarean Section in Case of Aneurysm of the Muscular Intraventricular Septum with Neonatal Follow-up - A Case Report and Review of the Literature

Abstract

We present the case of aneurysm of the muscular intraventricular septum with accompanying cardiomegaly and abnormal venous flow patterns requiring emergency cesarean section and specialized neonatal treatment. At the age of 8 months our patient has no clinical symptoms with a 6 mm scar in intraventricular muscular septum..

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Fetal Macrosomia, Polyhydramnios and Cardiac Anomalies may be Helpful to Predict Poor Outcome in Neonate – Case Report of a Possible Fetal Rasopathy with Sonographic and Neonatal Findings and Genetic Evaluation.

Abstract

This is a case report about very rare findings in 2nd half of pregnancy (after normal 1 trimester scan ) at 18th week of gestation fetal macrosomia was detected unrelated to maternal diabetes, and acceleration fetal growth later on with unusual cardiac abnormalities (fetal cardiomegaly, cardiomyopathy, partial abnormal venous connection ). Progressive features of congestive heart failure with polyhydramnios in a fetus with estimated 5500 g predicted a poor outcome and severe neonatal condition, which was presented and discussed with the parents to be. Casearean section was performed at 33rd weeks of gestation due to maternal dyscomfort, severe legs edema and her tachypnoe. Baby boy was delivered with birth weight of 5050g, Apgar 4 with mutiple tumors. Conservative care was introduced and neonated died on the 3rd day. Differential diagnosis was discussed with special attention to Costello syndrome however without proved by genetic make-up from neonatal blood.

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Prenatal diagnosis and in utero treatment of severe congenital toxoplasmosis: a case report

chromosomal study was normal. She did not own a cat, but had been feeding a stray cat near her home. She had never been screened for T. gondii antibodies. Ultrasonography at 31 +1 weeks of gestation revealed severe bilateral ventriculomegaly with areas of hyperechogenicities in the periventricular region ( Figure 1 ), cardiomegaly, hepatosplenomegaly with intrahepatic hyperechogenicites ( Figure 2 ), and polyhydramnios. Fetal congenital infection was suspected and fetal blood sampling was performed and sent for serologic testing. The result was positive for T. gondii

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Persistent Cloaca - A Challenge for an Experienced Sonographer

Abstract

This was a retrospective analysis of ultrasonographic and echocardiographic examinations in 12 fetuses with postnatally confirmed Cloacal Malformation. All examinations were conducted at the tertiary fetal diagnostic center (none of the preliminary screening diagnoses were correct). The main manifestations of cloacal malformation were: signs of urinary tract malformations in 10 fetuses (83,33%), pelvic cyst, diagnosed or suspected as hydrocolpos in 9 fetuses (75%), signs of lower part of digestive tract obstruction in 6 fetuses (50%). In addition there were abnormalities in echocardiographic examinations in 6 cases, such as symptoms of cardiac failure (cardiomegaly, tricuspid regurgitation, monophasic inflow, pericardial effusion, ascites) and one case with AS ( aortal stenosis). Functional abnormalities in fetal echocardiography suggest increased preload or afterload and early circulation failure in this severe prenatal malformation. This malformation have never been published before. The data suggest, that fetal functional echocardiography abnormalities in cases of abnormal pelvic structures should alert the clican to possibility of the presence of cloaca.

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Large Cardiac Fibroma – A Case Report of Sudden Death in A 10-Year-Old Child

ABSTRACT

Introduction: Cardiac fibroma is a rare benign tumor, although it is considered the second most frequent cardiac tumor in children. It is located in the ventricular myocardium, frequently in the interventricular septum. One third of the cases are asymptomatic, being discovered postmortem. Case presentation: A 10-year-old male child accused severe dyspnea a few minutes before its sudden death. Autopsy examination revealed hypertrophic cardiomegaly, the entire left ventricular wall being replaced by an enlarged tumor mass. On histopathological examination, the tumor was diagnosed as cardiac fibroma. Conclusions: Noninvasive examinations during childhood, such as cardiac ultrasound, increase the early detection of the tumors of the heart, decreasing the number of sudden death cases in young patients, especially children.

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Single Fetal Cardiac Tumors and Follow-Up Based on 13 Cases from the Fetal Cardiac Referral Center in 1993-2017

Abstract

Introduction: Fetal cardiac tumors are anomalies, that occur rarely: from Nationwide Register of Fetal Cardiological Problems in Poland in years 2004-2016 amongst 8112 fetuses with cardiological problems, there were 85 fetuses with cardiac tumors, including 52 cases of multiple cardiac tumors (0,64%) and 33 of single anomalies (0,4%). Material: This analysis included 13 cases from single tertiary fetal cardiac center Lodz in years 1993-2017. Results: Ten out of 13 fetuses with single cardiac tumors (SFCT) had cardiomegaly: on average HA/CA was 0,49. The size of the tumor was different: the smallest one - 6 x 6 mm, the biggest 47 x 47 mm. The way of the delivery: in 10 cases there was CS and in 3 cases natural delivery. Birth weight was from 2000-3950 g (average 2989,2 g). Cardiosurgical resection of the tumor was performed on 4 newborns: at 2nd, 4th, 8th and 16th day of life (average 7,5 day). Four neonatal deaths were registered (31%): in 1st 2nd and 11th day (before surgery) and in the 28th day after the operation. Conclusions: Single fetal cardiac tumors (SFCT) can be diagnosed at 20 weeks of pregnancy, which allows to start echocardiographic monitoring, taking into consideration the potential risk of hemodynamic progression. SFCT can be the first sign of tuberous sclerosis complex in later prenatal or postnatal life. SFCT other than rhabdomyoma can be asymptomatic in newborn, but may require an early cardiosurgical resection.

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Double aneuploidy with karyotype 48,XXY,+18 in first trimester fetus - case report

Abstract

Double anueploidy, involving both trisomy 18 and Klinefelter syndrome at the same time, is a rare event, in which the features of Edwards syndrome dominate the clinical picture. We describe a patient, who was diagnosed in the 8th gestational week with a seemingly normal intrauterine pregnancy with “chorionic bump”. In the 12th week the following abnormalities were diagnosed by ultrasound: Increased nuchal translucency (4.7 mm), increased anteroposterior diameter of the fourth ventricle and increased diameter of the third ventricle of the brain, mesocardia and cardiomegaly. The CVS karyotype revealed 48,XXY,+18 karyotype. In our opinion, the increased anteroposterior diameter of the fourth ventricle of the brain in this fetus was probably an early manifestation of the Dandy-Walker malformation (unproven because of early pregnancy termination), which is typical of Edwards syndrome fetuses. We consider the increased anteroposterior diameter of the fourth ventricle of the brain in the first trimester fetus as an indication for fetal karyotyping and further detailed imaging studies.

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The Prognosis for Fetuses with Vein of Galen Malformation and Symptoms of Heart Failure

Abstract

Vein of Galen Malformation (VGM) it is the most common cerebral arteriovenus malformation in fetuses and children. Usually VGM causes volume overload of the heart and can induce mass effect in the brain, causing progressive neurological impairment. Modern treatment allow on earlier therapy (before the 5th monthof life). This gives the newborn with isolated VGM and heart failure a chance of survival. This work presents case of isolated vein of Galen malformation with diagnosed cardiomegaly, monophasic flow through the tricuspid valve, large right heart, pericardiac effusion, dilatation of SVC and abnormal doppler exam. Postnatal management included aggressive medical treatment of cardiac failure and early transarterial embolization of the selected vessels feeding the aneurysm at 6 days of age. The newborn is 6 month old, growing normally without neurological deficits or developmental retardation and waiting of next stage therapy. New techniques of treatment give fetuses with VGM and prenatal signs of cardiac insufficiency a chance of survival and healthy life, in a group of selected cases. The analysis of the cardiovascular system in fetuses with VGM according to uniform criteria is essential in order to assess the influence of these malformations on the survivability of newborns.

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