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Introduction: The mortality and morbidity of extremely low birth weight infants (birth weight below 1000 grams) are different from low birth weight and term infants. The Centers for Disease Control statistics from the year 2009 shows that the mortality of preterm infants with a birth weight less than 500 grams is 83.4% in the United States. In many cases, serious complications can be expected in survivals., Aim: The aim of this retrospective study was to find prognostic factors which may improve the survival of the group of extremely low birth weight infants (<500 grams)., Method: Data of extremely low birth weight infants with less than 500 grams born at the 1st Department of Obstetrics and Gynecology, Semmelweis University between January 1, 2006 and June 1, 2012 were analysed, and mortality and morbidity of infants between January 1, 2006 and December 31, 2008 (period I) were compared those found between January 1, 2009 and June 1, 2012 (period II). Statistical analysis was performed with probe-t, -F and -Chi-square., Results: Survival rate of extremely low birth weight infants less than 500 grams in period 1 and II was 26.31% and 55.17%, respectively (p = 0.048), whereas the prevalence of complications were not significantly different between the period examined. The mean gestational age of survived infants (25.57 weeks) was higher than the gestational age of infants who did not survive (24.18 weeks) and the difference was statistically significant (p = 0.0045)., Conclusions: Education of the team of the Neonatal Intensive Care Unit, professional routine and technical conditions may improve the survival chance of preterm infants. The use of treatment protocols, conditions of the Neonatal Intensive Care Unit and steroid prophylaxis may improve the survival rate of extremely low birth weight infants.

Authors describe a case of a premature infant whose mother had a history of thyroidectomy due to Graves' disease and her hormonal status was not controlled during pregnancy. She did not receive prenatal care and on 33rd week the premature infant was delivered by emergency cesarean section because of fetal tachycardia and imminent intrauterine asphyxia. The infant with a weight of 1350 gram (percentile <10) was dysmature and had a large struma. The newborn received both conventional and high frequency ventilation for respiratory insufficiency and was treated with beta-blocker, digoxin and dobutamine for severe tachycardia (>180/min) and cardiac decompensation. Further examinations proved cardiomegaly, pericardial fluid, severe pulmonary hypoplasia, mitral- and tricuspid insufficiency and hepatosplenomegaly. The level of free thyroid hormones was several times higher than normal (fT4: > 6 ng/dl, fT3 > 30 pg/ml), while TSH level was 0. Respiratory support was required for 7 days, inotropic support for 10 days; at the same time propranolol and K-iodide were administered. Eventually, the tachycardia settled and beta-blocker therapy was continued with reduced doses. Finally, the thyroid hormone levels became normal. Authors emphasize that newborns of women suffering from Graves' disease can significantly lag behind in weight increase, may have severe circulatory insufficiency and symptoms of thyrotoxicosis. We also emphasize the importance of the monitoring maternal hormone levels and antibody titers.

Unlabelled: Cantrell's pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation., Aims and Methods: Prenatal ultrasound findings and malformations described during autopsy of the Cantrell's pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell's pentalogy cases., Results: Six cases of Cantrell's pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell's pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively)., Conclusion: Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell's pentalogy from malformations part of the syndrome but occurring as isolated defects.

Authors report the cases of the autosomal dominant Holt-Oram syndrome encountered during genetic counseling in the authors' institution between 1976 and 2005. A male patient with Holt-Oram syndrome considered the 50% risk of transmission of the disease too high, thus he decided against fathering children. Prenatal fetal ultrasonography and echocardiography were performed in two pregnant women affected with Holt-Oram syndrome. In one case the possibility of the syndrome was excluded, in the other Holt-Oram syndrome was diagnosed. In two further cases Holt-Oram syndrome was prenatally diagnosed on the basis of ultrasonography in two midtrimester fetuses from unaffected parents. In one case the cardiac and skeletal malformations proved to be so serious that the couple requested termination of the pregnancy. The pathologic examination of the fetus confirmed the prenatal diagnosis.

Objectives: To assess in a population of 10 fetuses diagnosed with absent pulmonary valve the incidence of associated cardiac extracardiac and chromosomal anomalies and the outcome of pregnancies., Method: Retrospective analysis of data of prenatally diagnosed absent pulmonary valve cases between 1 January 1993 and 31 December 2005 in Fetal Echocardiography Laboratory of Ist Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. The diagnosis was controlled with autopsy or postnatal examinations. The time of the prenatal diagnosis, indications, connected cardiac, extracardiac and chromosomal anomalies were studied., Results: Absent pulmonary valve was diagnosed prenatally in 10 pregnancies. The mean gestational age at the time of the diagnosis was 23.1 weeks (18-33 weeks). In 6 cases the malformation was diagnosed before the 24th gestational week, in 4 cases after the 24th gestational week. In 6 cases pregnancies were terminated. Fetal hydrops were found in 2 cases. Among 4 continued pregnancies one intrauterine fetal demise and two neonatal death occurred, one baby was successfully operated and survived. The Botallo duct was normally developed in five cases, in this group the absent pulmonary valve was isolated at 3 fetuses, at 1 fetus absent aortic valve and at 1 fetus tricuspid valve dysplasia were diagnosed. The Botallo duct was absent in five cases, in this group at 3 fetuses tetralogy of Fallot, at 1 fetus atrioventricular septal defect and at 1 fetus subaortic ventricular septal defect were diagnosed. Extracardiac malformations associated with cardiac abnormality at 3 fetuses. The indication for fetal echocardiography was positive family history in 3 cases, abnormal four chamber view in 2 cases, suspicion of thoracal cyst in 3 cases, fetal hydrops in 1 case, extracardiac malformation in 1 case., Conclusion: The absent pulmonary valve is a severe malformation, the prognosis is poor and highly dependent on associated malformations. The correct early prenatal diagnosis is possible. The recurrence risk is higher than in multifactorial inheritance.

Congenital absence of the ductus venosus is a rare anomaly. The authors have found 57 cases in the literature. Their case was associated with a complex congenital heart disease, what occurs only in 10% of absent ductus venosus cases. In cases, where the umbilical vein connects directly to the right atrium, the volume overloading causes dilatation of the right atrium and ventricle, development of polyhydramnios and fetal hydrops. The diagnosed an umbilical vein directly connected to the right atrium, extreme systemic congestion, but no hydrops. In some fetuses this condition did not result hydrops, because there is compensation by the rich compliance of intrahepatic vascular beds. This case is an illustration that mild sonographic signs such a transient bradycardia in the early second trimester could be a sign of a heart malformation and can draw attention of the sonographer to other associated severe congenital heart disease.

Aim: Review of perinatally diagnosed congenital diaphragmatic hernia cases with regard to time of diagnosis, side of hernia, mode of delivery, organs herniated into the thorax, main group of associated malformations and the outcome., Material and Method: The authors analysed the data of 104 cases from records of I. Department of Obstetrics and Gynecology Semmelweis University Budapest between July 1, 1990 and June 30, 2005. The observed period was analysed in two parts., Results: Prenatal ultrasound was performed in 93 cases. In 6 cases (6.5%) the prenatally diagnosed congenital diaphragmatic hernia postnatally proved to be a different non-cardiac thoracic malformation. 50.4% of the pre- and postnatally verified 87 congenital diaphragmatic hernia cases were diagnosed before the 24th week of gestation. 11 hernias were identified postnatally. From the diagnosed 98 cases 69 (70.4%) occurred as a part of multiple anomalies. The hernia was left-sided in 86.7%, and both-sided in 4 cases. In 1990-1997, the percentage of right-sided hernia was 4% while in the second period it was 13%. Delivery was performed in 51 cases, with prenatal diagnosis in 40 cases. From the 51 newborns 14 were alive, thus the survival rate was 27.5%. The survival rate of the newborns delivered by cesarean section was three times higher than that of the vaginally delivered ones. There was termination in 38 cases, 6 of which were isolated malformation. Intrauterine or subpartu death occurred in 5 cases. We have no data about the outcome of the pregnancy in four cases. The liver, spleen and stomach thoracic herniation was twice as high in the second period as it was in the first period, but their correlation did not change., Conclusion: According to the analysis of the 15 years' data the herniated organs, the multiplex malformations as well as the mode of delivery influence the survival in a large number of cases. Early diagnosis portends a large hernia, a higher malformation rate, and the worse prognosis.

Aim: The authors reviewed cases of prenatally diagnosed atrioventricular septal defect to investigate the effect of associated intra and extracardiac malformations, related chromosomal anomalies and time of diagnosis on the outcome of these pregnancies., Material and Method: Retrospective analysis of the data of prenatally diagnosed cases of atrioventricular septal defects detected between 1. January 1996 and 31. August 2003. For statistical analysis Fischer exact test was used., Result: During this period 83 atrioventricular septal defects were diagnosed prenatally. The mean age of the pregnant women was 30.9 year (15-43 year). The mean gestational age at the time of diagnosis was 25.2 weeks (13-38 weeks). The prenatal diagnosis was confirmed by fetopathologic, pathologic examination or postnatal echocardiography. There were no false positive or negative diagnosis. Prenatal chromosomal analysis was performed in 39 pregnancies, with a result of 13 normal caryotypes, 19 cases of trisomy 21, 6 cases of trisomy 18 and 1 case of trisomy 22. In 42 cases parents requested termination of the pregnancy. There were 6 intrauterine deaths, 16 neonatal deaths, 19 patients are alive at the time of this study. There were 9 patients, in the group of the survivors, where chromosomal abnormalities were detected prenatally, but the gestational age at the time of the diagnosis was more than 24 weeks. Atrioventricular septal defect was an isolated heart abnormality in each case of trisomy 21. Among the cases of trisomy 18, the atrioventricular septal defect of 2 patients was isolated heart malformation, in 4 cases other intracardiac malformations and in 1 case diaphragmatic hernia was detected as well., Conclusion: Regarding cardiac surgery the prognosis of isolated atrioventricular septal defect is good nowadays. The most important prognostic factors were associated intracardiac and extracardiac malformations and chromosomal anomalies. If the atrioventricular septal defect is an isolated heart malformation, the risk of associated chromosomal anomalies are much higher than in cases of complex heart malformations. The early prenatal diagnosis has great importance.

Introduction: In twin pregnancies the risk for congenital heart malformation is higher than in singular pregnancies. Because of the development of prenatal diagnostic methods, it is possible to recognise congenital malformations. In point of view of congenital cardiac malformations the twin pregnancies belong to high risk group., Aim: To found connection between congenital heart malformations and twin pregnancies., Material and Method: Retrospective analysis of data of Fetal Cardiology database between 1. january 1966 and 30. november 2003., Results: In singular pregnancies 455, and in twin pregnancies 31 severe congenital heart malformations were diagnosed prenatally. It means, that congenital heart malformations were diagnosed prenatally in 2% of singular pregnancies and in 4,6% of twin pregnancies. In monozygotic twin pregnancies in 36% of heart malformations were pulmonary stenosis and in 45% endocardial fibroelastosis. In dizygotic twin pregnancies Ebstein malformation was more common than it statistically expected. In dichorial and dizygotic twin pregnancies the cardiac malformations were similar to in singular pregnancies., Conclusions: In twin pregnancies the rate of congenital heart malformations is higher than in singular pregnancies, that's why the twin pregnancy is indication for fetal echocardiography. In monochorial twin pregnancies different types of congenital heart malformations are expected than in singular or dichorial twin pregnancies, the chorionicity seems more important than the zygosity.

Introduction: Fetal tachycardia may lead to an increased pre- and postnatal morbidity and mortality rate particularly if it is complicated by cardial decompensation and hydrops fetalis., Aim and Methods: In this study 33 fetal tachycardia cases diagnosed and treated between 1993 and 2004 in the fetal echocardiography unit of the I. Department of Obstetrics and Gynecology of the Semmelweis University, Budapest are reviewed. The data of postnatal care of the newborns delivered in the author's department from these pregnancies, and the follow up data provided by the National Institute of Cardiology are examined as well., Results: Mean gestational age at diagnosis of fetal tachycardia was 30 weeks (21-41 weeks). The tachyarrhythmias were classified into atrial flutter (n = 8), supraventricular tachycardia (n = 18), arrhythmia absoluta (n = 5), parasystole (n = 1) and brady-tachyarrhythmia (n = 1). Six cases were complicated by hydrops fetalis, 13 cases by cardial dysfunction. Transplacental antiarrhythmic therapy was applied in 22 cases, in 8 cases the newborns were delivered because of advanced gestational age, in 3 cases tachyarrhythmia resolved spontaneously or therapy was not indicated. The drug of first choice for transplacental therapy was digoxin, which was combined with amiodarone or verapamil (n = 10). Transplacental therapy led to cardioversion in 13/22 cases. The outcome of the 33 examined pregnancies was live birth in 27 cases, in utero death in 3 cases and 3 newborns were delivered elsewhere. The postnatal documentation of 24 newborns out of the 27 born in the author's department is available. At the time of birth 15/24 newborns were in sinus rhythm--out of whom 5 developed tachyarrhythmia later during the neonatal period--, 9/24 were tachycardic. Out of the 14 cases of tachyarrhythmia detected in the neonatal period altogether 3 resolved spontaneously, in 7 cases antiarrhythmic therapy was successful, in 4 cases unsuccessful. In 2 of these latter cases electrical cardioversion led to sinus rhythm. Neurological disorder was not detected in any case. In the early postnatal period 2 in utero severely decompensated newborns died. The follow-up data of 10 children is available, the follow-up period ranges between 6 weeks and 5 and a half years. All 5 children with history of supraventricular tachycardia are in sinus rhythm, 3 of them after suspending antiarrhythmic treatment, while the other 2 still on antiarrhythmic medication. Four out of 5 children with history of atrial flutter are in sinus rhythm, 2 of them left antiarrhythmic therapy, and 2 of them still take antiarrhythmic agents after electrical cardioversion. The atrial flutter of a 3 month old child could not be controlled yet permanently, despite several drug combinations applied., Conclusions: Survival and late prognosis of tachycardic fetuses treated in utero is good. A prospective study of even more cases is required to establish uniform therapeutic guidelines and to provide appropriate follow-up data.