Małgorzata Sabatowska, Małgorzata Soroka and Maciej Słodki
Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.
Holt-Oram syndrome is a rare genetic syndrome, characterized by upper limb anomalies and congenital heart defects. The overall prenatal detection rate is low. We report a case of fetus with Holt-Oram syndrome with the current review of the literature.
Joanna Płużańska, Paweł Dryżek, Hanna Moczulska, Maciej Słodki, Michał Krekora, Ewa Gulczyńska, Tomasz Moszura, Jadwiga Moll and Maria Respondek-Liberska
Pulmonary valve stenosis is a congenital heart defect that is possible to detect and diagnose during prenatal life. We present a retrospective analysis of ten cases with isolated critical pulmonary valve stenosis (IPVS) to establish echocardiographic criteria which could predict the possibility for postnatal balloon valvuloplasty performed shortly after delivery.
Fetal ductal constriction is a potentially severe functional alteration, often causing right ventricular overload and insufficiency, tricuspid regurgitation and neonatal pulmonary hypertension. Classically, maternal administration of indomethacin and/or other nonsteroidal antiinflammatory drugs interfere in prostaglandin metabolism, leading to ductal constriction. However, many cases of fetal ductal constriction, as well as of persistent neonatal pulmonary artery hypertension, remain without an established etiology, being referred as “idiopathic”. In recent years, a growing body of evidences has shown that herbs, fruits, nuts, and a wide diversity of substances commonly used in daily diet, because of their high content of polyphenols, have definitive effects upon the metabolic pathway of inflammation, with consequent inhibition of prostaglandins synthesis. This anti-inflammatory action of polyphenols, when ingested during the third trimester of pregnancy, may interfere with the dynamics of fetal ductus arteriosus flow and cause ductal constriction. This review has the purpose to approach these new evidences, which may influence dietary orientation during pregnancy.
11 deletion syndrome, Jacobsen syndrome (JBS), is a rare genetic abnormality associated with a wide variety of phenotypes. There are only a few case reports of JBS diagnosed prenatally, however majority resulting in termination of pregnancy. We present for the first time a prenatal diagnosis of JBS with congenital heart defect common arterial trunk type I (CAT) and the changing phenotype during fetal and postnatal life.
Agnieszka Nawara-Baran, Karl Frontzek, Herbert Budka and Paweł P. Liberski
A case of the rare fetal brain tumor is presented. This initally was observed as bleeding and ventriculomegaly and it was diagnosed at 28th week gestation by 2D, 3D and TUI ultrasound. The patient remained under the perinatal care until the end of pregnancy: cesarean section was performed at 37th week of gestation. Despite neurosurgery, the baby died on the 3rd day of postnatal life. On the basis of histopathological examination the diagnosis was established such as highly malignant tumor with focal ependymal and neuronal differentation that expands the current histopathology tumors classification.
Katarzyna Więckowska, Lech Dudarewicz, Hanna Moczulska, Maciej Słodki, Zbigniew Pietrzak and Maria Respondek-Liberska
The primary aim of this study was to determine the predictive value of prenatal ultrasound and echocardiography for prognosis in congenital heart disease (CHD) with coexisting diaphragmatic hernia (DH) in a tertiary care center. Eleven records from the database of the Department for Diagnoses and Prevention of Congenital Malformations, Polish Mother’s Memorial Hospital Research Institute, were reviewed. The mean maternal age was 29,2 ± 5,1 years, and the mean gestational age at the time of diagnosis was 28,4 ± 6,7 weeks. No information was available for children discharged from hospital. Data of eight cases of prenatal DH and complex heart disease from the literature were also analyzed. Three fetuses survived the neonatal period. In each of these, CHD was other than the urgent or critical type, defined as not requiring cardiac surgical intervention in the first day or month of life. Both sets of data collected from our center and the published literature confirmed the unfavorable prognosis for fetuses with severe or critical CHD with coexisting DH.
In the history of civilization twins always fascinated, but initially they were treated as a freak of nature. Relatively recently the first scientific attempts were made to elaborate this theme and in the 50s of the 20th century the first national register of twins was created (Danish). Currently, there are many of such databases and they are an excellent source for a various analyzes, including the incidence and risk factors of genetically determined diseases, among others congenital heart defects. This paper presents a historical, sociological and medical aspects connected with the fascinating world of twins.
Małgorzata Soroka, Maciej Słodki, Hanna Moczulska and Maria Respondek-Liberska
DORV [double outlet right ventricle] is defined as a defect in which the great vessels leave entirely or mostly from above the morphologically right ventricle. The proposed by us new prenatal classification of heart defects for the DORV defect including the division into isolated and coexisting with extracardiac defect, facilitates consultation and predicting prognosis for the fetus and newborn. Isolated DORV in fetuses is classified as a severe elective defect (expected cardiac intervention or surgery at 1 month of age) with a relatively good prognosis for newborns, regardless of the type of intracardiac anomalies (in our series of cases 100% survival). DORV in the fetus with coexisting extracardiac defects (ECM) regardless of type of anomaly had poor prognosis (in our study group 100% demise rate).
Agnieszka Nawara, Beata Radzymińska-Chruściel, Maria Respondek Liberska, Katarzyna Januszewska and Edward Malec
Absent of pulmonary valve syndrome is a rare congenital heart defect, which is diagnosed prenataly in 0,8% of fetuses with congenital heart defect based on the data from National Polish Registry Of Fetal Cardiac Anomalies.
We present a case of pregnat woman and fetus with that heart defect, which was detected in the 1st trimester and treated prenatally with digoxin, amnioreduction, tocolysis and steroids following by the cardiac sugery in the neonatal period. Despite an intensive therapy, the infant died on the 3rd month of age.
We belive that the main reason of poor outcome was premature delivery at the 35th week of gestation.
We present unique cardiac images proving the changing characterists of this type anomay since 1 st trimester