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Prenatal Diagnosis of Holt-Oram Syndrome

100%
Moczulska H., Respondek-Liberska M.
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issue 1
29-32
EN
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.
2
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Right Atrial Thrombosis in the Fetus with Dilatation of the Right Atrium with in Utero Spontaneous Resolution - A Case Report with Neonatal Follow-Up

88%
Płużańska J., Jaguszewska K., Binikowska J., Oleś A., Łukaszewski M., Respondek-Liberska M.
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issue 4
26-33
EN
We present an extraordinary case of congenital enlargement of the right atrium diagnosed at 31 weeks of gestation. This case emphasizes the fact that timing of the detection of this particular cardiac malformation is of capital importance to tract the optimal treatment strategy in order to monitor further progression (in this case accompanying thrombosis) and prevent complications.
3
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The follow up of 114 fetuses and newborns (without chromosomal aberrations) with echogenic intracardiac focus detected in prenatal USG

75%
Sokołowski Ł., Respondek Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 2
6-10
EN
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.
4
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Persistent Cloaca - A Challenge for an Experienced Sonographer

63%
Blitek M., Słodki M., Moczulska H., Piaseczna-Piotrowska A., Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 1
17-22
EN
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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