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Jakub Malinowski, Maciej Słodki, Krzysztof Szaflik and Wanda Mikołajczyk-Wieczorek

Abstract

We present a case of a female fetus with large posterior fossa cyst. After detailed diagnosis in referral center revealing normal heart anatomy and no functional abnormalities in cardiovascular system, a trial decompression of the fluid reservoir was suggested to the parents and successfully performed at the 30th week of pregnancy. Neurosurgical treatment was continued in the neonatal period. At the age of 7 months, the child presented normal physical development, and the cranial image of the CNS showed good recovery of the brain.

Open access

Agnieszka Nawara-Baran and Beata Radzymińska-Chruściel

Abstract

The aim of this study was an analysis of cardiac assessment in the first trimester, their outcomes, and comparison with literature data. Five cases were analysed from the year 2014. The exams were performed between 11-13 + 6 weeks. The analysis confirmed that the detection of CHD in 1 st trimester was possible and was verified by an early fetal echocardiogram. The most common symptoms of abnormal heart images in the early screening assessment were: axis, heart size and color Doppler assessment of the chambers and V sign. The outcome of pregnancies with early detection of fetal heart defects was poor. There was only one surviver

Open access

Maciej Słodki and Maria Respondek-Liberska

Abstract

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.

Open access

Katarzyna Piątek, Katarzyna Zych-Krekora, Joanna Płużańska, Ewa Gulczyńska and Maria Respondek-Liberska

Abstract

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.

Open access

Maria Respondek-Liberska, Joanna Płużańska, Katarzyna Zych-Krekora, Ewa Czichos, Maciej Słodki and Jadwiga Moll

Abstract

From 2012-2014 we selected fetuses who had an isolated congenital heart defect and restriction of the foramen ovale defined as its diameter of 4 mm or less, shunt across foramen ovale, V max > 70 cm/sec along with a typical harsh sound during fetal ausculation during echocardiography and reversal flow in pulmonary veins, no extracardiac anomalies, singleton pregnancies and delivery > 37 weeks of gestation. It was retrospective analysis of 16 cases: There were 10 non-survivors and 6 survivors The only significant difference between survivors and non-survivors pertained to the fraction of newborns operated on up to 11th day, which was significantly higher among the survivors (5/6 vs. 2/8, p=0.031).

Conclusions:

1) In the event of prenatal restriction of the foramen ovale early surgery by day 10 had a statistically better outcome in terms of survival compared to cases that underwent surgery at a later period at our Institute.

2) Prenatal restriction of the foramen ovale was more often related to male gender and in 75% of cases in our series had complicated follow-up: neonatal death or prolonged hospital stay.3) Information from prenatal echocardiography regarding restriction of the foramen ovale should be taken into consideration as valuable information suggesting priority for early cardiac surgery.

Open access

Katarzyna Więckowska, Jerzy Węgrzynowski, Katarzyna Zych - Krekora, Joanna Kwiatkowska, Maciej Słodki and Maria Respondek-Liberska

Abstract

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.

Open access

Iwona Gawron, Magdalena Borówka, Jacek Kołcz and Janusz H. Skalski

Abstract

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.

Open access

Diane E. Spicer, Maria Respondek-Liberska and Robert H. Anderson

Abstract

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.

Open access

Maria Respondek-Liberska, Mark Sklansky, Dennis Wood, Maciej Słodki, Stuart Weiner, Bettina Cuneo, James C. Huhta, Ulli Gembruch, Giuseppe Rizzo, Gurleen Sharland, Reuven Achiron and Jay D. Pruetz

Abstract

The first recommendations and guidelines for physicians training in fetal echocardiography (FE) were created in 1990 and later on up-dated by multiple medical associations and journals in Europe and the United States. This time advanced fetal cardiac ultrasound recommendations focused more on the organizational and logistical aspects of FE, to better define the fetal echo guidelines for practitioners in tertiary centers. Underlined is FE in 3rd trimester, with special attention to the direction of flow across the foramen ovale and ductus arteriosus.

AHA classification of heart defects in prenatal cardiology into seven major groups (from 2014) is presented as well as the Polish classification into four groups (from 2012) related to the urgency of required time to postnatal treatment/intervention based on FE findings in the 3rd trimester of pregnancy.

Current definition of fetal cardiologist in 2015 is also presented.

Open access

Rafał Zieliński, Sebastian Foryś and Maria Respondek-Liberska

Abstract

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.