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Agnieszka Nawara, Beata Radzymińska-Chruściel, Maria Respondek Liberska, Katarzyna Januszewska and Edward Malec

Abstract

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

Open access

Małgorzata Soroka, Maciej Słodki, Hanna Moczulska and Maria Respondek-Liberska

Abstract

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).

Open access

Łukasz Sokołowski and Maria Respondek Liberska

Abstract

Introduction: The majority of research regarding echogenic intracardiac focus (EIF) concentrates on its weak correlation with the occurrence of Down syndrome. The aim of our research was to approach this problem from a wider perspective and to find out, if the prenatal diagnosis of EIF is connected with the occurrence of other abnormalities of prenatal and postnatal period.

Materials & Methods: The data of 114 patients with prenatally diagnosed EIF were analyzed retrospectively. No fetal or neonatal chromosomal abnormalities were included.

Results: In 13/114 (11,4%) fetuses cardiological abnormalities other then EIF were diagnosed: 8/114 (7%) cases of congenital heart defects and 7/114 (6,1%) cases of tricuspid valve regurgitation. Extracardiac malformations were diagnosed in 11/114 (8,8%) of fetuses. In 7/114 (6,1%) of the cases the abnormal volume of amniotic fluid was diagnosed. In 4/114 (3,5%) of pregnancies the premature rapture of membranes (PROM) occurred. Six, 6/114 (5,3%) of pregnancies were at risk of intrauterine asphyxia in perinatal period. 12/114 (10,5%) newborns were delivered before 37th week of gestation, stillbirth occurred in 1/114 (0,9%) case. Most newborns (86/114; 75,4%) birth weight >3000g. In 19/114 (16,7%) of newborns birth weight was 2500g-3000g. In 9/114 (7,9%) of newborns birth weight was <2500g

Conclusions: Fetuses with EIF without chromosomal aberrations may present heart defects which are hard to diagnose in basic obstetrical USG scan. Therefore, those patients should be directed to prenatal cardiology facilities for evaluation of the fetal heart.

Prenatal EIF in fetuses without chromosomal aberrations may indicate low birth weight (<2500g) in the future. Further research of this matter is needed.

Open access

Klaudia Korecka and Maria Respondek-Liberska

Abstract

Obstruction of the duodenum is the most common intestinal obstruction of the fetus and newborn. A typical symptom of duodenal atresia is the double bubble sign. However, in order to diagnose annular pancreas, it is also required to locate a hyperechogenic band around the double bubble. We analysed the possibility of prenatal differential diagnosis of intestinal atresia, such as duodenal atresia and annular pancreas based on the analysis of two cases examined in the 26th week of pregnancy. This material was analysed by two ultrasonographers (one pediatric surgeon).

Conclusions: "Double bubble" symptom in prenatal sonography is typical of high level intestinal obstruction, but it can occur both in classical duodenal atresia, and in the cases of annular pancreas, and in other rare anomalies. Classic prenatal ultrasound examination using 2D option seems to be insufficient for accurate differential diagnosis.

Open access

Lech Dudarewicz, Urszula Wysocka and Lucjusz Jakubowski

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.

Open access

Anna Augustyniak, Maciej Słodki, Wojciech Krajewski, Jacek Moll and Maria Respondek-Liberska

Abstract

Material and Methods: A retrospective analysis of 41 patients with congenital heart defect IAA from ICZMP in Lodz in the years 2003-2012, including 15 (36.6%) after prenatal diagnosis.

Results: An average of 4 newborns with IAA were operated annually, in the years 2003 -2009 postnatal diagnosis dominated, from 2010 prenatal diagnosis. In the group, n = 15 fetuses with IAA, heart size was normal: Avg 0.33 + / -0.05 HA / CA. Cardiovascular endurance in the CVPS : 8 - 10 points Avg. 9.56 + / -0.73. Infants in the "prenatal" group were often delivered by CS (64.3%), and infants diagnosed postnatally, often by spontaneous delivery (76.9%). In the prenatal group 100% of newborns received prostaglandin E1 from day one, and the "postnatal" group at an average of 6th day. In the "prenatal" group the dose of PGE: 0.02 ug / kg / min, in the "postnatal" group the average dose was> 2 x higher 0,042 mg / kg / min. A statistically significant relationship was shown: between the day of administering prostaglandin E1 and the number of postoperative recovery hospitalization days of the newborn with IAA.

Di George Syndrome occurred in 40% in the "prenatal" and in 15.4% in the "postnatal" group. Cardiac operations in the "prenatal" group were performed at average 19th day, and at average 21st day in the "postnatal" group. Infants in the "prenatal" group remained in the postoperative recovery room an average of 7.85 + / -3.98 days, and those from the “postnatal” group an average of 8.38 + / -3.94 days (p = 0.6212). There were 3 deaths (7.3%): 1 patient diagnosed prenatally and 2 postnatally. Neonates with IAA in the "prenatal" group remained in the hospital on average: 43.69 + / - 4.82 days and 39.54 + / -3.75 days in the "postnatal" group. After cardiac surgery, hospitalization in the "prenatal" group amounted to an average of 25.2 days in the "postnatal" 26.7 days.

Conclusions: 1. The prenatal diagnosis of IAA was grounds to start the administration of prostaglandin E1 on the first day of life, and in the "postnatal" group the administration of prostaglandin followed on average 6 days after birth, the "postnatal" dose was 2 x higher. 2. A statistically significant correlation was demonstrated between the day of prostaglandin E1 commencement and the number of hospitalization days of the newborn with IAA in the postoperative recovery room, the length of hospital stay in the ICU and sometimes full hospitalization.

Open access

Anna Wójtowicz and Hubert Huras

Abstract

Interrupted aortic arch is a rare and very difficult to diagnose congenital heart defect, which is divided into three types according to the place of interruption. The most common is type B, where the interruption is between the left carotid artery and left subclavian artery. This case report shows the description of the anomaly during the first and second trimester scan and review of the literature regarding interrupted aortic arch.

Open access

Małgorzata Soroka and Maciej Słodki

Abstract

Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.

Open access

Paulina Kordjalik, Maria Respondek-Liberska, Maciej Słodki, Zdzisław Tobota, Beata Radzymińska-Chruściel, Aldona Siwińska, Agata Włoch and Joanna Szymkiewicz-Dangel

Abstract

Prenatal cardiologists for councelling, most often are using both terminology and data from pediatric cardiology, which is a population of different age.

As there is lack in polish literature data about pulmonary stenosis in prenatal population, we retrospectively evaluated our data from National Registry of Cardiac Problems in Fetuses.

Open access

Marek Blitek, Maciej Słodki, Hanna Moczulska, Anna Piaseczna-Piotrowska and Maria Respondek-Liberska

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.