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.
This is review of the literature regarding fetal thymus development, its role in immune system, research regarding prenatal thymus evaluation in fetal congenital heart defects, abnormal karyotypes, intrauterine growth restriction. The methods of fetal type measurements both in singelton and multiple pregnancies are discussed and presented.
The paper presents a description of the development of the human heart based on the present state of knowledge cytogenetics and molecular genetics. Despite the complexity of the genetic mechanisms described, the authors emphasize that it may be just a slice patterns in kardiogenezie. Aberrations and mutations lead to the formation of congenital heart defects in both isolated and components of genetic syndromes.
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.
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.
A retrospective analysis of medical records of selected 83 cases (pregnant women and fetuses of patients from the database of the Department of Diagnosis and Prevention of Congenital Malformations ICZMP in Lodz in the years 2007-2012) who had minimum 2 echocardiographic exams. In this group 220 echocardiography exams were performed: in 62 fetuses 2x and in 21 fetuses 3x or more. After exclusion of intrauterine demises and terminated pregnancies, 72 cases have been qualified for further analysis. Heart defects in this material were initially divided into four groups: the most serious defects, critical, serious and evolving. Group of the most serious defects was excluded from the 2nd stage of analysis. An attempt to subtract the group of “evolving” heart defects from the group of severe and critical defects was conducted. This group of defects was initially classified as “severe evolving to the critical”, as hemodynamics progression was observed during intrauterine life. Mortality in the subgroup of evolving defects was 71.4 %, in the group of critical defects 36.8 % and in the group of heavy defects 34.4 % ( chi-square test 0.05). In the group of evolving defects the mortality rate after cardiac surgery was :7/11 infants (63 %) and in the group of severe defects 7/26 (26.9 % ) (Fisher test 0.018). There were no other differentiating features found within the statistical analysis of the study groups.
Conclusions: Prenatal classification of fetal heart defects based on echocardiographic monitoring allows to observe the progression of hemodynamic changes in selected fetuses. This group of defects was encumbered with the greatest mortality in the neonatal and postoperative period.
Triploidy is a disorder involving the occurrence of an additional set of chromosomes in cells. It is accompanied by multiple fetal and placental anatomical abnormalities. Triploidy typically leads to embryos or fetuses being miscarried in an early stage of pregnancy. Fetuses with this abnormality rarely survive until the third trimester. The case studies of two pregnancies diagnosed prenatally with triploidy are presented below in the context of the identified abnormalities and relevant literature.
Hypoplastic left heart syndrome (HLHS) is one of the commonest heart defects detected prenatally in the world. For many years now, it has been at the very top of the list of the commonest foetal heart defects in the Polish National Registry for Foetal Cardiac Pathology (www.orpkp.pl). According to a new classification of foetal heart defects, HLHS - as an isolated heart defect - can be classified into the following three groups: severest heart defects (despite immediate surgical intervention made just after birth, nearly 100% of the infants die); severe heart defects requiring immediate cardiac intervention in a hemodynamics room; and severe heart defects requiring no immediate cardiac intervention (infants are born in a good condition of health and can be prepared for the first stage of their cardiac operation as planned). The present study looks at three cases of HLHS classified into three different groups of the new classification of foetal heart defects. In terms of specialist medical literature written to date, this classification of foetal heart defects from the point of view of prenatal hemodynamics is a novelty; it may help obstetricians and neonatologists working at referral centres to act properly at labour wards.