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Krzysztof Piotrowski, Krzysztof Mędrek and Stanisław Zajączek

Abstract

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.

Open access

Maria Respondek-Liberska

Abstract

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.

Open access

Izabella Pietrzyk, Hanna Moczulska, Maciej Słodki, Krzysztof Szaflik and Maria Respondek-Liberska

Abstract

The aim of this study was to check whether echocardiography is useful in patients with thoracic anomalies undergoing an invasive therapy in utero.

Material and Methods: Retrospective analysis of 42 pregnant women and their fetuses (2003 - 2012), which, due to the chest anomalies had genetic ultrasound and ECHO and then were subjected to an invasive intrauterine therapy.

Results: The mean maternal age was 30.2 years, there were 18 high risk pregnancies and 24 low-risk pregnancies, the average gestational age at diagnosis was 28.2 wks (17 - 38), the average week of delivery was 35 wks (24 - 41), the average birth weight was 2700g (700 - 4050g). The average number of fetuses with chest anomalies undergoing therapy in utero in our center was 4.2 per year. The most common anomaly was hydrothorax, then CALM and DH and one case of AS. Anomalies coexisted with generalized edema, ascites and/or polyhydramnios. Most often shunts and/or decompression of pleural fluid and / or abdominal cavity were performed. Structural heart defects occurred in 6 fetuses and functional anomalies in echocardiography were recorded in 29 fetuses (73%).

Selected group of 19 fetuses had echocardiography before and after surgery. In 14 fetuses hemodynamic improvement was observed and in 5 patients fetal functional changes have persisted. The time from the last treatment to the delivery averaged was 40,2 days (2 to 140).

The follow-up was analyzed in a group of 37 fetuses: there were 2 intrauterine deaths, 11 deaths after delivery and 24 infants were discharged home. Mean hospitalization duration of the live-born infants was 23.7 days (1 - 70). Hospitalization of 14 neonates with hemodynamic improvement after surgery was 25.5 days and in a group of five fetuses with no improvement after surgery, was mean 45.6 days.

Conclusions: The number of fetuses undergoing an invasive therapy due to anomalies of the chest during 2003 - 2012 remained at a similar level (an average of approximately 4 patients per year). Thoracic defects were often accompanied by functional anomalies in the circulatory system. Majority (73%) of fetuses had shown a significant improvement in cardiac efficiency after an invasive treatment. In the group of fetuses in which the interventional procedure has improved cardiovascular hemodynamics, average duration of hospitalization was shorter as compared to the group without haemodynamic improvement (25,5 days versus 45,6), however there was no statistically significant difference.

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Maciej Słodki and Maria Respondek-Liberska

Abstract

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.

Open access

Magda Rybak-Krzyszkowska, Hanna Moczulska, Patrycja Pilch, Agnieszka Gach, Rita Tomczyk, Joanna Korabel and Maria Respondek-Liberska

Abstract

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.

Open access

Iwona Strzelecka, Jadwiga Moll, Katarzyna Kornacka, Andrzej Zieliński and Maria Respondek-Liberska

Abstract

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.

Open access

Giuseppe Rizzo

Open access

Anna Knafel, Marcin Wiecheć, Agnieszka Nocuń and Antoni Basta

Abstract

D-type transposition of the great arteries (d-TGA) is a critical heart defect lesion, that should be diagnosed prenatally, as early postnatal management greatly relies on this information. Recently, in Poland more heart defects of this type are diagnosed prenatally. However, there is a lack of data regarding the diagnosis of d-TGA at the time of nuchal translucency measurement at 11-13+6 weeks of pregnancy. We present a case of d-TGA that was detected and properly diagnosed during the first trimester scan. The diagnostic plane that enabled the diagnosis was the three vessel-trachea view (3VT) presenting one, wide vessel instead of a typical V-sign.

Open access

Józef Krawczyk and Justyna Zańko

Abstract

The study case is a foetus with a diagnosed heart tumor in week 23 of pregnancy. The tumor was found in the right ventricle with a concomitant local change of echogenicity of the right atrial wall; it did not cause any haemodynamic disturbances, impair systolic function or disturb inflow into the right ventricle. Foetal check-up in week 30 has shown a complete regression of the lesion in the right ventricular lumen. Because of no foetal movements felt, in week 36 the pregnant patient reported to the hospital where foetal heart asystole was diagnosed and the pregnancy was terminated by labour induction. Foetal autopsy has shown no nodose lesions in the heart or any other lesions which could have been the cause of an abrupt foetal death in utero.

Open access

Małgorzata Soroka, Maciej Słodki, Ludmiła Bartoszewicz, Izabela Krukiewicz- Ruta, Tadeusz Żurawik and Anna Dobrzańska

Abstract

Spontaneous premature closure of the human fetal ductus arteriosus is an uncommon event that often results in significant morbidity and mortality. We present a case of a fetus with prenatal previously not detected bone defect that presented with idiopathic intrauterine closure of the ductus arteriosus. A 23-year-old mother at 39 weeks of gestation was admitted to the hospital because of an abnormal findings in four chamber screening view of the fetal heart on routine ultrasonography. The fetal echocardiography showed no detectable flow through the ductus arteriosus. Cesarean section was performed 1 hour later. A female newborn weighing 2640g with Apgar scores of 0, 2, 4 and 6 at 1, 3, 5, and 10 minutes, respectively, was delivered.