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1
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Missed Down Syndrome and Congenital Heart Defect in Prenatal Ultrasound (Us) - Malpractice or Not? Opinions of 12 Experts

100%
Respondek-Liberska M.
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issue 1
19-25
EN
An example of missed Down syndrome with congenital heart defect by prenatal ultrasound evaluation was presented. A jury of 12 physicians, experts in prenatal ultrasonography and echocardiography were asked in questionare was this malpractice or not. The answers were very different. The results of the questionaires were discussed with the background to the selected data from Eurocat, from Polish National Prenatal Cardiac Registry, from Polish Registry of Congenital Malformations by 2nd year of life, and financial data of the Polish Prenatal Program in Lodz Region. Should we increase the cost of screening or the cost of ultrasound and echo training ? Or just provide patients with better knowledge regarding the differences between expertise of primary care obstetricians and experts in referral centers
2
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Fetal Thymus - Review

100%
Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 1
9-12
EN
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.
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Polish National Registry for Fetal Cardiac Malformations (www.orpkp.pl) and negative verifications during the 10 years

100%
Respondek-Liberska M.
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issue 4
4-11
EN
Polish National Registry for Fetal Cardiac Malformations ( initiated in 2004) was opened for primary practicioners as well as for the referral centers performing or basic fetal heart evaluation or targeted fetal echocardiography. None of the physicians until current era had regular education of fetal cardiology . It was necessary to create an audit - veryfication system, which was provided as a checking each record by the 3 most experienced fetal cardiologists in Poland, using randomised computer system. The aim of this analysis was a retrospective evaluation of „Negatively Verified” Material and methods: The total number of fetuses in Registry during 2004 and 2013 was 5682 and there were 170 negative verified cases. Every „negative case” was analyzed and qualified to one of five categories: An error in classification of the severity of CHD ; computer mistakes , reported other prenatal problems but not CHD, different interpretation of the images (freezed frames or cine loops) and bad order of the labels of cardiac anomalies. Results: The percentage of negative verifications was similar every year and total number of negative verification was 2,9% . The main reason for negative was first of all unproper fetal heart classification in 71 cases (42%). In majority the differences in interpretations were minor: but there were 5 huge differences between primary and secondary interpretation. Conclusions: 1) Fetal heart cardiology requires prenatal heart classification instead of pediatric classification 2) Computer mistakes (missing fields, missing diagnoses, lack of freezed frames or cine-loops) shoud be picked up by the system during up-loading of the cases 3) The different interpretation of the images could be used for teaching purpose of fetal cardiology .
4
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Nowotwory ośrodkowego układu nerwowego u płodu

100%
Respondek-Liberska M.
Aktualności Neurologiczne
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2009
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vol. 9
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issue 3
164-182
EN
Current scientific literature on a subject of foetal brain tumours, however rich, consists mainly of case reports, produced by either obstetricians – ultrasonographers or radiologists and neuropathologists. In this review, we summarize state of the art literature on that subject and we performed a meta-analysis of 92 cases from that literature and presented our own cases referred to us as to a reference centre. This centre is obstetrical and paediatric and provides a complex care for both a pregnant woman, a foetus and, eventually, a newborn with a brain tumour. We report here the main categories of the central nervous system (CNS) foetal tumours: subependymal giant cell astrocytoma (SEGA), teratomas, lipomas, medulloblastomas and germinomas. Foetal brain tumours are mainly sporadic and familial occurrences are rare. We cover prenatal diagnosis – ultrasonography and magnetic resonance imaging (MRI). Foetal brain tumours are relatively readily diagnosed by ultrasonography provided their diameter exceeded 10 mm. However, they may be difficult to detect if “covered” as in cases of unilateral ventriculomegaly or in asymmetric hydrocephalus. The medical procedures, problems of termination of pregnancy in Poland and postnatal prognosis are also described. Eventually, tumours of the CNS in pregnancy are also discussed.
PL
Dostępna literatura na temat nowotworów ośrodkowego układu nerwowego (OUN) u płodów, chociaż niezwykle bogata, składa się głównie z doniesień kazuistycznych, opracowanych zarówno przez położników ultrasonografistów, jak i przez radiologów i neuropatologów. W niniejszej pracy dokonano przeglądu piśmiennictwa, metaanalizy obejmującej 92 przypadki z literatury, ilustrując tekst przykładami z własnego ośrodka referencyjnego – położniczo-pediatrycznego, w którym zapewniona jest kompleksowa opieka zarówno dla ciężarnej, płodu, jak i noworodka z nowotworem OUN. Omówiono podstawowe typy nowotworów wykrywanych w okresie prenatalnym. Są to: podwyściółkowy astrocytoma olbrzymiokomórkowy (SEGA), potworniaki, tłuszczaki, medulloblastoma i nowotwory terminalne. Nowotwory OUN płodu są najczęściej sporadyczne. Rodzinne występowanie anomalii spotyka się wyjątkowo rzadko. Na szczególną uwagę zasługuje diagnostyka prenatalna – ultrasonografia i obrazowanie z użyciem magnetycznego rezonansu jądrowego. Nowotwory OUN stosunkowo łatwo można uwidocznić ultrasonograficznie, gdy ich średnica przekracza 10 mm. Trudne do wykrycia i „przesłonięte” mogą być one w przypadkach jednostronnej wentrykulomegalii lub w asymetrycznym wodogłowiu. W niektórych przypadkach nie tylko nie udaje się ustalić dokładnego rozpoznania nowotworu OUN płodu, ale można rozpoznać ultrasonograficznie jedynie wodogłowie. Dopiero badanie neuropatologiczne okolicy wodociągu mózgu może ujawnić anomalie, np. pod postacią glioneuronalnego hamartomatu. Omówiono także postępowanie w przypadku stwierdzenia nowotworu u płodu, możliwość terminacji ciąży w Polsce oraz losy noworodka po porodzie. W diagnostyce różnicowej należy brać pod uwagę stwardnienie guzowate, krwawienia do ośrodkowego układu nerwowego, hemimegaencephalon, „tętniak” żyły Galena oraz torbiele pajęczynówki. Opisano także problem nowotworu OUN u ciężarnej.
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Prenatal Diagnosis of Holt-Oram Syndrome

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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.
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New classifications of prenatally diagnosed congenital heart defects and their influence of neonatal survivability

64%
Słodki M., Respondek-Liberska M.
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issue 3
6-8
EN
Attempts to adapt the classifications of pediatric congenital heart defects (CHD) to prenatal cardiology have been lasting for many years. The paediatric cardiology CHD classifications are mainly based on anatomic details and/or pulmonary blood flow and are not always useful in fetal medicine. Because of these reasons and also many more, adaptation attempts of congenital heart defects of children, from pediatric to prenatal cardiology have not brought desired effects.Clinical course in utero and at delivery can now be predicted, and as a consequence, fetal medicine specialists are being asked to consider the fetus as a patient and the transition to postnatal life is an important part of care. The new prenatal classifications of CHD shows new particular group of CHD, requiring emergent procedure after birth. Thanks to organizing special delivery room with special team of specialist we can much more improve the outcome, especially in severest CHD.
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Jacobsen Syndrome - Prenatal and Postnatal Phenotypic Changes - Case Report and Review

64%
Wildner P., Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 4
28-35
EN
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.
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Reply to comments from Dr. Joanna Szymkiewicz-Dangel and her colleagues

64%
Słodki M., Respondek-Liberska M.
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issue 4
40-42
9
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Prenatalna diagnostyka obrazowa torbieli pajęczynówki

64%
Respondek-Liberska M., Liberski P. P.
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EN
An arachnoid cyst is a fluid-filled space that is formed between two walls of arachnoid. Those cysts do not communicate with the subarachnoid space. It is congenital malformation of the central nervous system (CNS), which occur with a frequency of 1% of newborns with brain tumour. Arachnoid cyst is a congenital malformation that is formed after the embryogenesis. Currently (the last 20 years), arachnoid cysts are detected during life, since the prenatal period, mainly by imaging techniques. Arachnoid cysts are either “primary”, being a sequelae of faulty embryogenesis of arachnoid, or secondary, or acquired. The latter result from haemorrhages, infections or trauma. Secondary arachnoid cysts commonly communicate with subarachnoid space and, by definitions, are not “true” arachnoid cysts. This review covers definitions and data of the frequency of the arachnoid cyst as well as of current options to detect and diagnose it within the prenatal period since the 13th week of gestation using different modes of ultrasonography and magnetic resonance imaging. The differential for the arachnoid cyst consists of porencephalic cyst, schizencephaly, Dandy-Walker syndrome, arteriovenous malformation of Galen, neoplastic cyst, brain tumours and brain haemorrhages. This review also discusses the prognosis for foetus suffered from arachnoid cysts as well as the role of chromosomal abnormalities in their aetiology. Current recommendations are provided in case of prenatal arachnoid cyst detection.
PL
Torbiel pajęczynówki to przestrzeń płynowa pomiędzy rozwarstwionymi ścianami opony pajęczej, która nie komunikuje się z przestrzenią podpajęczynówkową. Jest to wrodzona wada ośrodkowego układu nerwowego (OUN), występująca z częstością około 1% u noworodków z nowotworem wewnątrzczaszkowym. Wada ta należy do wad wrodzonych, ale prawdopodobnie powstających nie w okresie embriogenezy, ale po jej zakończeniu. Obecnie (w ciągu ostatnich >20 lat) torbiele pajęczynówki są wykrywane przyżyciowo począwszy od okresu prenatalnego na podstawie diagnostyki obrazowej. Torbiele pajęczynówki mogą być pierwotne, jako następstwo nieprawidłowej embriogenezy pajęczynówki, lub wtórne (czyli nabyte), jako powikłanie krwawienia, urazu bądź infekcji. Torbiele wtórne zwykle komunikują się z przestrzenią podpajęczynówkową i ex definitione nie są „prawdziwymi” torbielami pajęczynówki. Praca zawiera definicje oraz dane dotyczące częstości występowania torbieli pajęczynówki i współczesnych możliwości wykrywania oraz diagnozowania tych zmian w okresie prenatalnym, począwszy od 13. tygodnia ciąży, przy wykorzystaniu różnych typów badań sonograficznych oraz magnetycznego rezonansu jądrowego (MRI) u płodu. Omówiono także diagnostykę różnicową z uwzględnieniem torbieli splotu naczyniówkowego, torbieli porencefalicznej, schizencefalii, zespołu Dandy’ego-Walkera, malformacji tętniczo-żylnej Galena, krwawienia do OUN oraz torbielowatych nowotworów mózgu. Ponadto zwrócono uwagę na anomalie chromosomalne związane z torbielą pajęczynówki oraz omówiono losy płodów z torbielą pajęczynówki. Podano aktualnie zalecane postępowanie w przypadku wykrycia torbieli pajęczynówki u płodu.
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Poszerzenie układu komorowego mózgowia u płodu – diagnostyka różnicowa

64%
Żarkowska A., Respondek-Liberska M.
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EN
Widening of foetal cerebral ventricles is one of the most commonly diagnosed anomalies of the foetal brain and one of the most common reason, why pregnant women are referred to the referral centre. This abnormal finding very often is misdiagnosed as the hydrocephalus, but it is not the hydrocephalus according to the classical definition. Extended cerebral fluid accommodation in foetus may be an isolated finding, but it may also coexist with other anomalies of the brain, other congenital anomalies and also with genetic syndromes – in each case of the cerebral ventricles widening, other abnormalities should be excluded. Presence of other anomalies changes the prognosis for the foetus/neonate and determines further parental counselling. In the case of hydrocephalus prenatal intervention may be considered, whereas other foetal brain anomalies (e.g. holoprosencephaly) may be lethal conditions, so appropriate diagnosis of the anomaly is crucial for planning of the perinatal care. Here we present foetal brain anomalies coexisting with extended cerebral fluid accommodation or suggesting foetal hydrocephalus, and their characteristic features, which should be considered in differential diagnosis.
PL
Jedną z najczęściej rozpoznawanych w prenatalnym badaniu ultrasonograficznym anomalii ośrodkowego układu nerwowego jest poszerzenie komór bocznych mózgowia – z tego właśnie powodu ciężarne najczęściej kierowane są do ośrodka referencyjnego. Nieprawidłowość tę często mylnie określa się mianem wodogłowia, podczas gdy nie każde poszerzenie komór bocznych mózgu jest w klasycznym rozumieniu wodogłowiem. Poszerzenie przestrzeni płynowych mózgowia może być u płodu anomalią izolowaną, ale może także towarzyszyć innym nieprawidłowościom (w obrębie samego mózgowia, jak również innym wadom oraz nieprawidłowościom genetycznym), dlatego zawsze stwierdzenie tej anomalii w przesiewowym badaniu ultrasonograficznym powinno skłaniać do poszukiwania nieprawidłowości w obrębie innych narządów. Obecność innych wad zasadniczo zmienia rokowanie dla płodu/noworodka oraz tryb postępowania, jakie powinno być zaproponowane ciężarnej. W przypadku wodogłowia u płodu należy pamiętać o możliwości jego odbarczenia jeszcze w okresie prenatalnym. Inne anomalie ośrodkowego układu nerwowego (np. holoprosencefalia) są wadami letalnymi, dlatego też właściwe zdiagnozowanie występującej patologii ma kluczowe znaczenie dla udzielenia prawidłowego poradnictwa przyszłym rodzicom i zaplanowania odpowiedniej opieki perinatalnej. Poniżej zaprezentowano przegląd anomalii ośrodkowego układu nerwowego związanych z poszerzeniem komór mózgowia (lub mogących je sugerować), jakie mogą zostać stwierdzone u płodu, wraz z cechami charakterystycznymi, które należy uwzględnić w diagnostyce różnicowej.
11
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Duodenal obstruction in prenatal ultrasound examinations - duodenal atresia versus annular pancreas - reports on two cases and literature review

64%
Korecka K., Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 2
29-33
EN
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.
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Can Inflammatory Markers Diagnosed Upon Ultrasound Examination During Pregnancy Regress After Administration of Vaginal Treatment? – A Pilot Study

64%
Szubert M., Respondek-Liberska M.
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issue 2
11-14
EN
Background: Inflammatory markers in prenatal ultrasound are a heterogeneous group of images that can evolve during pregnancy, due to regression or exacerbation of infection in pregnant women. Objective:The assessment if effective rebalancing of the bacterial flora of the vagina can lead to withdrawal of the symptoms of inflammation in ultrasound examination (US). Methods: A retrospective pilot study, among pregnant woman admitted to the Department of Prenatal Cardiology ICZMP in 2013-2014 in whom ultrasonographic signs of intrauterine infection were present. Electronic database were searched for key words ”infection, placentitis, tricuspid regurgitation, poly/oligohydramnion, IUGR, CRP, antibiotics, vaginal treatment”. The analysis included 238 patients, 30 received antibacterial vaginal treatment, from 27 patients a complete follow-up (control ultrasound after 10-14 days and data on labor) were obtained. Results: The average age of patients was 29 years. In 22% of patients tricuspid regurgitation was observed and it was the most commonly recognized marker of infection. Regression of infection signs were observed in 21 patients (77.8%) after 2 weeks of vaginal treatment. 2 patients presented with ultrasound image stabilization, in 3 patients worsening of tricuspid regurgitation or cardiac hypertrophy were detected. Polyhydramnios, the second most common parameter (18.51% of patients) resolved after treatment in all studied patients. The delivery took place an average at 39th week of gestation (SD +/- 1.93). Conclusions: Effective anti-inflammatory vaginal treatment improved ultrasound images in 21 out of 27 fetuses. These preliminary observations suggesting a beneficial role of the vaginal treatment on inflammatory markers in pregnancy ultrasound require further investigation.
13
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Analiza wyników badań ultrasonograficznych i echokardiograficznych z drugiego i trzeciego trymestru ciąży u płodów z prawidłowym kariotypem i poszerzoną przeziernością karku

52%
Moczulska H., Janiak K., Słodki M., Respondek-Liberska M.
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vol. 13
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issue 52
21-30
EN
Introduction: Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods: The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mother’s Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results: Fifty-seven patients (1.7% of the examined group) fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54%) structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%). The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions: In more than half of the fetuses with an increased nuchal translucency (NT≥3 mm) and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies.
PL
Wstęp: Liczne opracowania dowiodły, że poszerzona przezierność karku wiąże się ze zwiększonym ryzykiem aberracji chromosomowych, ale znacznie mniej analiz odnosi się do dalszych losów płodów z prawidłowym kariotypem. Celem pracy było zbadanie ryzyka wystąpienia wad serca i innych wad rozwojowych u płodów z poszerzoną przeziernością karku i prawidłowym wynikiem standardowego badania cytogenetycznego. Metody: Przeanalizowano retrospektywnie 5183 badania przeprowadzone u 3376 pacjentek, które zgłosiły się do Zakładu Diagnostyki i Profilaktyki Wad Wrodzonych Instytutu Centrum Zdrowia Matki Polki w Łodzi w okresie od stycznia 2008 do marca 2011 roku w celu wykonania ultrasonograficznych i echokardiograficznych badań prenatalnych. Przeanalizowano wyniki badań wykonanych w drugim i trzecim trymestrze ciąży u płodów z poszerzoną przeziernością karku ≥3 mm w pierwszym trymestrze ciąży oraz prawidłowym kariotypem. Wyniki: Pięćdziesiąt siedem pacjentek (1,7% analizowanej grupy) spełniło kryteria włączenia do badania. U 31 ciężarnych (54%) stwierdzono wady strukturalne lub anomalie u płodu. Wadę serca rozpoznano u 17 płodów (29,8%). Obserwowano różne wady serca: tetralogię Fallota, ubytek w przegrodzie międzykomorowej, wspólny kanał przedsionkowo-komorowy, przełożenie wielkich naczyń, zespół hipoplazji lewego serca. Wnioski: U ponad połowy płodów z poszerzoną przeziernością karku (NT≥3 mm) i prawidłowym kariotypem w dalszym przebiegu ciąży ujawniały się wady rozwojowe różnych narządów, w tym najczęściej wady serca – izolowane lub towarzyszące innym anomaliom.
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Agenezja ciała modzelowatego – znaczenie diagnozy prenatalnej

52%
Janiak K., Respondek-Liberska M., Liberski P. P.
Aktualności Neurologiczne
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2009
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vol. 9
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issue 3
194-202
EN
The corpus callosum is an important brain commissure connecting the cerebral hemispheres and is essentials for efficient cognitive function. The corpus callosum is derived from lamina terminalis. Until the eighth weeks of gestation, only the most rostral part is formed; the caudal portion develops about 18-20 weeks of gestation. A disturbance of this process may lead to agenesis or partial agenesis (hypogenesis or dysgenesis) of the corpus callosum. Insults responsible for agenesis of the corpus callosum or varying degrees of hypoplasia of the corpus callosum are not identified. An early failure may lead to complete agenesis, whereas a later one will lead to partial genesis or hypoplasia. Its prevalence varies in different studies, depending on the population studied and the diagnostic criteria. ACC is often associated with other cerebral and/or extracerebral malformations including syndromes and metabolic diseases. Although the overall prognosis of ACC remains controversial, several studies have reported a worse prognosis in the presence of additional anomalies; in the less frequent cases of isolated ACC, it appears to carry a prognosis compatible with normal or borderline postnatal development in most cases. We review the current state of knowledge regarding the sonographic characterization, management and prognosis of the agenesis of corpus callosum.
PL
Ciało modzelowate jest ważnym spoidłem mózgu, łączącym obie półkule mózgowe i odgrywa istotną rolę w czynności poznawczej mózgu. Ciało modzelowate rozwija się z blaszki granicznej. Formowanie się ciała modzelowatego zaczyna się od jego przedniej części około 8. tygodnia ciąży, postępuje doogonowo i kończy się około 18.-20. tygodnia ciąży. Zaburzenie procesu kształtowania może prowadzić do całkowitej lub częściowej agenezji ciała modzelowatego. Nie są znane przyczyny powodujące agenezję lub różnego stopnia hipoplazję tej części mózgowia. Wczesne uszkodzenia mogą prowadzić do całkowitej jego agenezji, podczas gdy późniejsze – do częściowej agenezji lub hipoplazji. Częstość występowania tej wady zmienia się w różnych opracowaniach w zależności od badanej populacji i kryteriów diagnostycznych. Agenezja ciała modzelowatego często współistnieje z wadami ośrodkowego układu nerwowego albo z wadami innych układów i narządów, włączając zespoły metaboliczne. Chociaż ogólne rokowanie w agenezji ciała modzelowatego pozostaje kontrowersyjne, w niektórych pracach podkreśla się gorszą prognozę w przypadku obecności dodatkowych anomalii, w mniej licznych pracach odnoszących się do izolowanej postaci tej wady w większości przypadków opisuje się rozwój postnatalny z pogranicza patologii i normy. W pracy przedstawiono aktualny stan wiedzy na temat charakterystyki sonograficznej, postępowania i rokowania dla płodów z prenatalnie rozpoznaną agenezją ciała modzelowatego.
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DORV in fetuses: how to consult future parents at a prenatal cardiology center? Retrospective analysis of 39 cases

52%
Soroka M., Słodki M., Moczulska H., Respondek-Liberska M.
Prenatal Cardiology
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2014
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vol. 4
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issue 3
13-17
EN
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).
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Relative Certainty as Opposed to Uncertainty in the Diagnosis of Isomerism

52%
Spicer D. E., Respondek-Liberska M., Anderson R. H.
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issue 2
6-10
EN
The situation in which the bodily organs are “jumbled up”, frequently described in terms of visceral heterotaxy, was first brought to prominence by Ivemark, who emphasised the situation in terms of anatomy and development of the spleen. Putschar and Mannion then indicated that “between the normal situs, which is asymmetrical, and the situs inversus, which is the asymmetrical mirror-image of normality, a symmetrical situs sometimes exists, and this is the essence of bodily isomerism”. In the setting of the congenitally malformed heart, however, the isomeric features are found uniformly only in the atrial appendages. To date, these such subtle features have largely been recognised at autopsy, but if specifically sought for, they should be identified by the echocardiographer, even when working in the prenatal setting. The positive diagnosis of cardiac isomerism, therefore, depends on the recognition of isomeric atrial appendages. There is no evidence of isomerism at ventricular or arterial level. The relationship of the great vessels as they traverse the diaphragm, nonetheless, has been shown to be helpful in pointing to the need for more specific examination of the atrial appendages. When analysed on this basis, there can only be left or right isomerism, although the isomeric features are not always found uniformly throughout the bodily organs. Should there be disharmony between the systems, the specific findings should be described for each system, thus removing any suggestion of ambiguity. The distinction between left and right isomerism is crucial for counselling, not only for immediate decisions regarding the progress of the pregnancy in question, but for future potential pregnancies. Distinguishing between pregnancies developing with right and left isomerism could also provide the key for determining the genes responsible for the production of laterality.
17
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Prenatal Sonographic Diagnosis of Pierre-Robin Sequence - A Case Report

52%
Zieliński R., Foryś S., Respondek-Liberska M.
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issue 2
21-23
EN
The rare anomalies diagnosed in prenatal ultrasonographic examination include Pierre-Robin sequence. The aim of the report was to demonstrate a well-documented case of Pierre-Robin sequence detected by ultrasonography at the 24th week of gestation, present the differentiation of Pierre-Robin sequence in the prenatal ultrasonography and to emphasize the importance of early sonographic diagnosis of the anomaly. The prenatal diagnosis of Pierre-Robin sequence in prenatal ultrasonographic assessment is of great importance as it permits planning further course of pregnancy as well as EXIT procedure and postnatal treatment.
18
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Persistent Cloaca - A Challenge for an Experienced Sonographer

46%
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.
19
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How "fast" reading of prenatal cardiac diagnosis may badly influence the neonatal management - case report from tertiary center in 2015 and literature review

46%
Piątek K., Zych-Krekora K., Płużańska J., Gulczyńska E., Respondek-Liberska M.
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issue 3
38-41
EN
Complains about prenatal diagnoses usually touch late diagnosis, missed diagnosis or uncomplete diagnosis. Prenatal diagnose provides usually important information for parents, obstetrician and neonatologist. Successful perinatal care is based on a good cooperation of the perinatal team. This time we present a peculiar situation when improper reading of prenatal diagnosis had caused a lot of troubles for the patient, parents and hospital staff.
20
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Assessment of the accuracy in prenatal diagnosis of congenital malformations. Analysis of 101 questionnaires filled in by parents of neonates hospitalized in the Department of Congenital Malformations Polish Mother's Memorial Research Institute

46%
Strzelecka I., Słodki M., Zieliński A., Maroszyńska I., Respondek-Liberska M.
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issue 4
19-25
EN
Introduction: Prenatal diagnosis is an integral part of modern perinatal care. In the article results of questionnaires pertaining to the prenatal process of diagnosis are presented. Parents whose children were afflicted with congenital malformations of all types responded to enquiry Materials and methods: Between March 2014 and March 2015 150 of 355 infants were hospitalized in the Department of Pediatric Intensive Care and Congenital Malformations in Łódź, and 150 had congenital malformations. Results: 101 parents of 150 children (67,3%) have given the feedback. Anomalies were such as: of the digestive system (37%), CHD (25%), OUN (14 %), genito-urinary (13%), skeletal system (9%) and respiratory system (2%). In 65 children of 101 the defects were detected prenatally. The obstetric US exam was the most frequently pointed out as performed (more than 1200). The biochemical markers and genetic tests in were performed in 34 pregnancies. The high percentage of ability to detect malformation was reported in the group of fetal echo examinations. Conclusions: 1. Prenatal ultrasound exams were the least effective method of making appropriate prenatal diagnosis of congenital malformation. 2. Fetal echocardiography had a high level of sensitivity and specificity in detecting congenital malformations. 3. Prenatal cardiologists proved to be the most effective in detecting congenital malformations 89,3 % of detected abnormalities. 4. Biochemical exams had a positive result in only one case of Down Syndrome.
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