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1

Routine third trimester fetal cardiac evaluation: time for consideration

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Strzelecka I., Płużańska J., Węgrzynowski J., Moszura T., Słodki M., Respondek-Liberska M.

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2015

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vol. 5

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issue 3

18-23

EN

Most heart defects form between 4 and 6 weeks after fertilization. The detection rate is still growing. Despite significant progress in prenatal diagnosis some cases still go undetected. We present two cases of similar defects: prenatally detected and undetected, both presenting with a normal four chamber view in mid-pregnancy. We compared the follow-up of both neonates along with sustained health and economic consequences. The dynamics of the development of heart defects during prenatal life suggests the legitimacy to perform additional, late echocardiography exams (35-38 weeks of gestation)

2

Antenatal echocardiographic diagnosis of an aortopulmonary window combined with pulmonary stenosis in neonate. A case report

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Więckowska K., Węgrzynowski J., Zych - Krekora K., Kwiatkowska J., Słodki M., Respondek-Liberska M.

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2015

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vol. 5

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issue 3

33-37

EN

In this report a case of aortopulmonary window (APW) diagnosed at 26 hbd is presented. APW supported the pulmonary circulation in neonate afflicted with pulmonary stenosis. To our knowledge, this is the first report in the literature referring to observing their coincidence in fetal life.

3

Postnatal Outcomes of Children with Prenatally Diagnosed Congenital Heart Disease Combined with Congenital Diaphragmatic Hernia

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Więckowska K., Dudarewicz L., Moczulska H., Słodki M., Pietrzak Z., Respondek-Liberska M.

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2014

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vol. 4

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issue 4

23-27

EN

The primary aim of this study was to determine the predictive value of prenatal ultrasound and echocardiography for prognosis in congenital heart disease (CHD) with coexisting diaphragmatic hernia (DH) in a tertiary care center. Eleven records from the database of the Department for Diagnoses and Prevention of Congenital Malformations, Polish Mother’s Memorial Hospital Research Institute, were reviewed. The mean maternal age was 29,2 ± 5,1 years, and the mean gestational age at the time of diagnosis was 28,4 ± 6,7 weeks. No information was available for children discharged from hospital. Data of eight cases of prenatal DH and complex heart disease from the literature were also analyzed. Three fetuses survived the neonatal period. In each of these, CHD was other than the urgent or critical type, defined as not requiring cardiac surgical intervention in the first day or month of life. Both sets of data collected from our center and the published literature confirmed the unfavorable prognosis for fetuses with severe or critical CHD with coexisting DH.

4

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

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Strzelecka I., Słodki M., Zieliński A., Maroszyńska I., Respondek-Liberska M.

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2015

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vol. 5

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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.

5

The Significance of Autopsy to Look for Extracardiac Anomalies, Despite Correct Prenatal Diagnosis of Hypoplastic Left Heart Syndrome in Two Siblings

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Gawron I., Borówka M., Kołcz J., Skalski J. H.

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2015

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vol. 5

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issue 2

15-20

EN

Thanks to recent progress in foetal imaging, it is now possible to detect many anatomical defects at earlier gestational age. To illustrate the importance of prenatal diagnosis and the impact of extracardiac congenital anomalies we presented the cases of sibling with prenatal diagnosis of hypoplastic left heart syndrome (HLHS) and post-mortem diagnosis of adrenal hypoplasia. Prenatal diagnosis was made in one mother twice, in two subsequent pregnancies, respectively at 22 and 18 weeks gestational age. The mother-to-be was referred to specialist foetal echocardiography because of suspected image of the heart. After the diagnosis was made, future parents were thoroughly informed about prognosis and possible management and decided to continue pregnancy, and treat a newborn, despite the fact that the foetal defect was diagnosed subsequently. The two newborns underwent surgical treatment and no complications occurred during the surgery. The children died after Norwood operation among the symptoms of acute adrenal failure. In post-mortem examination of the younger, the severe adrenal hypoplasia was identified. Prenatal diagnosis enables to make informed, conscious decisions at appropriate gestational age. Detection of congenital heart defect should incline an ultrasonographer towards searching for extracardiac lesions, which might significantly influence prognosis and surgical outcomes.

6

Duodenal obstruction in prenatal ultrasound examinations - duodenal atresia versus annular pancreas - reports on two cases and literature review

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Korecka K., Respondek-Liberska M.

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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.

7

Prenatal Diagnosis of Congenitally Corrected Transposition of Great Arteries on the Basis of Four Chambers’ View - Case Report

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Sabatowska M., Soroka M., Słodki M.

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2015

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vol. 5

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issue 1

26-28

EN

Congenitally corrected transposition of great arteries is a rare congenital heart defect. The clue of the abnormality is the inversion of the ventricles which caused abnormal atrioventricular and ventriculoarterial connections. This defect is seldom identified prenatally, much more seldom than the simple transposition of the great arteries, even though, we can observe it, on the image of 4 chambers of the heart. Prenatal diagnosis of this defect, at the 24th week of pregnancy and during the routine ultrasound scan, is being described below. The echocardiographical features of the congenitally corrected transposition of great arteries are being presented, with reference to the differences in the image of the 4 chamber view.

8

Prenatal Diagnosis of Holt-Oram Syndrome

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Moczulska H., Respondek-Liberska M.

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2015

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vol. 5

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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.

9

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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2015

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vol. 5

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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.

10

A reminder of peristalsis as a useful tool in the prenatal differential diagnosis of abdominal cystic masses

88%

Gerscovich E. O., Sekhon S., Loehfelm T. W., Wootton-Gorges S. L., Greenspan A.

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EN

With routine antenatal ultrasound and recent advances in ultrasound technology, fetal intraabdominal cystic masses are recognized more often and are better characterized than in the past. They may be classified as solid and cystic, and may originate from multiple structures. When considering the extensive differential diagnosis of cystic masses, the observation of peristalsis narrows the possibilities to the gastrointestinal tract. To find this feature on ultrasound, the examiner must expressly think and look for it, otherwise it may be missed. Our case report illustrates one of those cases.

PL

Dzięki rutynowym badaniom ultrasonograficznym w ciąży oraz najnowszym innowacjom technologicznym w dziedzinie badań ultrasonograficznych guzy jamy brzusznej u płodu są coraz częściej rozpoznawane i lepiej scharakteryzowane niż w przeszłości. Mogą mieć charakter lity bądź torbielowaty i wywodzić się z różnych struktur w jamie brzusznej. Zaobserwowanie fali perystaltycznej umożliwia zawężenie dalszego procesu diagnostyki różnicowej do samego przewodu pokarmowego. Jest to jednak objaw łatwy do przeoczenia, więc aby możliwe było zaobserwowanie go w badaniu ultrasonograficznym, należy mieć go konkretnie na względzie w trakcie badania. W niniejszej pracy autorzy przedstawiają opis przypadku, który dobrze to ilustruje. Artykuł w wersji polskojęzycznej jest dostępny na stronie http://jultrason.pl/index.php/wydawnictwa/volume-17-no-69

11

The effect of prenatal diagnosis on antibiotic therapy in neonates with hypoplastic left heart syndrome. Antibiotics in prenatally diagnosed patients with HLHS

88%

Czerżyńska M., Mleczko M., Sacharczuk J., Skalski J. H., Mroczek T.

Folia Medica Cracoviensia

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2019

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vol. 59

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issue 2

12

Poszerzenie układu komorowego mózgowia u płodu – diagnostyka różnicowa

63%

Żarkowska A., Respondek-Liberska M.

Aktualności Neurologiczne

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2009

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vol. 9

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issue 3

203-208

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.

13

Agenezja ciała modzelowatego – znaczenie diagnozy prenatalnej

63%

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.

Refine search results

Routine third trimester fetal cardiac evaluation: time for consideration

Antenatal echocardiographic diagnosis of an aortopulmonary window combined with pulmonary stenosis in neonate. A case report

Postnatal Outcomes of Children with Prenatally Diagnosed Congenital Heart Disease Combined with Congenital Diaphragmatic Hernia

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

The Significance of Autopsy to Look for Extracardiac Anomalies, Despite Correct Prenatal Diagnosis of Hypoplastic Left Heart Syndrome in Two Siblings

Duodenal obstruction in prenatal ultrasound examinations - duodenal atresia versus annular pancreas - reports on two cases and literature review

Prenatal Diagnosis of Congenitally Corrected Transposition of Great Arteries on the Basis of Four Chambers’ View - Case Report

Prenatal Diagnosis of Holt-Oram Syndrome

Right Atrial Thrombosis in the Fetus with Dilatation of the Right Atrium with in Utero Spontaneous Resolution - A Case Report with Neonatal Follow-Up

A reminder of peristalsis as a useful tool in the prenatal differential diagnosis of abdominal cystic masses

The effect of prenatal diagnosis on antibiotic therapy in neonates with hypoplastic left heart syndrome. Antibiotics in prenatally diagnosed patients with HLHS

Poszerzenie układu komorowego mózgowia u płodu – diagnostyka różnicowa

Agenezja ciała modzelowatego – znaczenie diagnozy prenatalnej