Katarzyna Zych-Krekora, Michał Krekora, Marek Kopala and Maria Respondek-Libserska
Introduction: APVS (Absent Pulmonary Valve Syndrome) is a rare congenital heart disease. Its incidence according to The Polish National Registry of Fetal Cardiac Pathology in years 2004 - 2016 was 0.6%.This disease is caused by the absence or the residual pulmonary artery valve resulting in significant dilation of the pulmonary trunk and its branches. In utero deaths are reported. After birth the major problem is respiratory failure and high preoperative and postoperative mortality. Material and methods: In 1995 to 2016, 11 fetuses with APVS were diagnosed in our unit, at the average 27,5 weeks of gestation (min. 18.5- max 37.1 weeks of gestation). Two groups were analysed in this series of cases: “Old one” by 2011 (n = 6) and “New one” since 2011 (n = 5) and perinatal care as well as survival were compared. We analysed the fetal echo results, perinatal care including transplacental digoxin and steroids treatment in NEW group, the longevity of the pregnancy and neonatal/infants outcome. Results: In Old group the average day of cardiac surgery was day 91st after birth (max. 161) and the survival was 50% . In the New group the average surgery day was 41st day and the postoperative survival was 60%, however there was no statistical significance ( p > 0,05). Conclusions: There is no single parameter from prenatal life in foetuses with APVS which may allow to predict the positive outcome meaning neonatal survival. However optimal perinatal care (early detection of defect, transplacental digoxin at least 3-4 weeks, steroids, no preterm delivery, on-time delivery, postnatal care in tertiary center) and relatively early cardiac surgery may have combined impact on the improvement of survival after prenatal diagnosis of APVS, however more data are necessary to prove this hypothesis.
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.
Magda Rybak-Krzyszkowska, Hanna Moczulska, Patrycja Pilch, Agnieszka Gach, Rita Tomczyk, Joanna Korabel and Maria Respondek-Liberska
8. Kang HJ, Rosenwaks Z. Triploidy - the breakdown of monogamy between sperm and egg Int. J. Dev. Biol. 2008;52: 449-454
9. Santhananthan AH. Paternal centrosomic dynamics in the early human development and infertility. J Assist Reprod Genet 1998;15:129-138
10. Hasegawa T, Harada N, Ikeda K, Ishii T, Hokuto I, Kasai K, Tanaka M, Fukuzawa R, Niikawa N, Matsuo N. Digynic triploid infant surviving for 46 days. An J Med Genet. 1999;87:306-310.
11. Mittal TK, Gordon MV, Morrissey BM, Jones A. Triploidy: Antenatal
Krzysztof Mędrek, Krzysztof Piotrowski, Wojciech Halec and Stanisław Zajączek
Twin gestations are higher risk pregnancies for fetal mortality especially when associated with genetic disorder and congenital heart defect which significantly increases the complication risk in the co-twin including fetal loss, premature delivery, and organ damage. In this report, we present a case of dichorionic twins in 41 years old woman. A trisomy 21 was diagnosed in one twin associated with uncharacteristic congenital heart defect resulting in single twin demise in mid-gestation. The effect of regular care and proper management was delivery of healthy surviving twin.
Agnieszka Nawara-Baran and Beata Radzymińska-Chruściel
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
Katarzyna Więckowska, Lech Dudarewicz, Hanna Moczulska, Maciej Słodki, Zbigniew Pietrzak and Maria Respondek-Liberska
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.
Hanna Romanowicz, Ewa Czichos, Katarzyna Zych-Krekora, Michał Krekora, Maciej Słodki and Maria Respondek-Liberska
It was retrospective analysis of prenatal echocardiography findings in fetuses with congenital heart defects, who died in our institution and had an autopsy exams in years 2010 - 2015.
Material and methods:
Among total 115 deaths the pulmonary hypertension based on histopathology criteria was present in 83 cases (72%) as a leading cause of their deaths. Out of 83 neonates 40 underwent prenatal echo, 43 did not, however in both groups there were similar types of heart defects.
The prenatal echo findings from study group (n=40), from the last echo before the delivery were compared with control group and group of HLHS who did survive neonatal surgery and were discharged from hospital. There were statistical differences between pulmonary artery/aorta ratio in fetuses in control group and fetuses in study group („pulmonary hypertension” after birth) (p=0,044). There were statistical differences between pre-delivery pulmonary artery/aorta ratio in fetuses in study group (with „pulmonary hypertension” after birth) and in group of fetuses with HLHS, alive & well after first surgery (p=0,027). There were no differences between pulmonary artery/ aorta ratio fetuses in control group and fetuses with HLHS, alive & well after first surgery (p=0,38)
1) Pulmonary hypertension was a frequent cause of neonatal deaths among our series of congenital heart defects
2) Dilatation of pulmonary artery (and increased pulmonary/artery ratio ) in fetal echo just before delivery may be an important risk factor for poor neonatal outcome in congenital heart defects.)
Iwona Strzelecka, Maciej Słodki, Katarzyna Zych-Krekora, Michał Krekora, Mariusz Grzesiak, Iwona Maroszyńska and Maria Respondek-Liberska
Introduction: Congenital heart defects are the most frequent reason for deaths during the neonatal and early infancy periods. The aim of this study was to retrospectively analyze singleton pregnancy outcomes of premature neonates with congenital cardiac defects delivered by Cesarean section. Materials and methods: A retrospective analysis was performed on 10,800 fetuses evaluated in our referral fetal cardiac center between 2010 and 2016. A group of 58 singleton pregnancies was selected with the following criteria: fetal heart defect, Cesarean section (C-section), and gestation of 37 weeks or less. Exclusion criteria included labor outside of our hospital and multiple pregnancy. Results: Isolated heart defects constituted 74,1% (43 cases) of the analysed data set. The majority of newborns were delivered at 36 weeks of gestation (43,1%), with an average of 33,6 weeks. In one case (1,7%), C-section took place at 22nd week. Birth weight of newborns < 2500g constituted 51,7% (30 cases). Neonatal deaths occurred in 60,3% (35 cases). Conclusions: Preterm neonates with congenital heart defect, delivered by C-section in our reference centre, during 2010 to 2016, had generally poor outcomes and high mortality rate. The average hospital stay of surviving neonates was approximately two months. An improvement of knowledge about prenatal cardiology is necessary in obstetrician management with fetuses with congenital heart diseases.
Vein of Galen Malformation (VGM) it is the most common cerebral arteriovenus malformation in fetuses and children. Usually VGM causes volume overload of the heart and can induce mass effect in the brain, causing progressive neurological impairment. Modern treatment allow on earlier therapy (before the 5th monthof life). This gives the newborn with isolated VGM and heart failure a chance of survival. This work presents case of isolated vein of Galen malformation with diagnosed cardiomegaly, monophasic flow through the tricuspid valve, large right heart, pericardiac effusion, dilatation of SVC and abnormal doppler exam. Postnatal management included aggressive medical treatment of cardiac failure and early transarterial embolization of the selected vessels feeding the aneurysm at 6 days of age. The newborn is 6 month old, growing normally without neurological deficits or developmental retardation and waiting of next stage therapy. New techniques of treatment give fetuses with VGM and prenatal signs of cardiac insufficiency a chance of survival and healthy life, in a group of selected cases. The analysis of the cardiovascular system in fetuses with VGM according to uniform criteria is essential in order to assess the influence of these malformations on the survivability of newborns.
Katarzyna Leszczyńska, Krzysztof Preis, Maria Respondek-Liberska, Maciej Słodki, Dennis Wood, Stuart Weiner, Ulli Gembruch, Giusseppe Rizzo, Reuven Achiron, Jay D Pruetz, Mark Sklansky, Bettina Cuneo, Birgit Arabin, Isaac Blickstein and
1. Pruetz JD, Sklansky M, Detterich J, Korst LM, Llanes A, Chmait RH. Twin-twin transfusion syndrome treated with laser surgery: postnatal prevalence of congenital heart disease in surviving recipients and donors. Prenat Diagn. 2011 Oct;31(10):973-7. doi: 10.1002/pd.2818. Epub 2011 Jul 11.
2. Lewi L, Jani J, Blickstein I, Huber A, Gucciardo L, Van Mieghem T, Doné E, Boes AS, Hecher K, Gratacós E, Lewi P, Deprest J. The outcome of monochorionic diamniotic twin gestations in the era of invasive fetal therapy: a prospective cohort study. Am J