The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic.
Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.
References 1. Słodki M, Szymkiewicz-Dangel J, Włoch A, Radzyminska-Chrusciel B, Siwinska A, Respondek-Liberska M.: Selected data from Polish NationalRegistry of Fetal Cardiac Pathology for the year 2012. Quo vadis?. Prenat Cardio 2013, 3(1): 5-9. 2. Respondek-Liberska M.: Polish NationalRegistry for Fetal Cardiac Pathology - dat from year 2011. Prenat Cardio. 2012, 2(1): 24-28 3. Respondek-Liberska M, Szymkiewicz-Dangel J, Tobota Z, Słodki M.: The goal and preliminary conclusions from the Polish NationalRegistry for Fetal Cardiac Pathology (www.orpkp.pl). Pol
In the Polish National Registry for Fetal Cardiac Pathology d-TGA ranked in 5th place on the list of most common heart defects after HLHS, AVSD, VSD and TOF and accounted for 3,5% of all registered cardiac malformations. The following increase in the detection of d-TGA in Poland was observed: 8 fetuses in 2006, 20 fetuses in 2008, 30 fetuses in 2012 (p<0,05, McNemara test).
The aim of this study was to analyze selected fetal and neonatal data in a group of 55 patients with d-TGA in the years 1997-2012 in the single reference prenatal cardiology center, type C (> 120 prenatal CHD per year). Mean gestational age was 28,2+/-4,7 weeks, which decreased from 36st week (in 2007) to 30th week (in 2012) (p=0,006; ANOVA & post hoc NIR test).
Demise in utero, termination of pregnancy, demise before cardiac surgery (4%) and postoperative deaths (2%) were taken into account (p >0,05 test χ2). Rashkind procedure during 48h after delivery was performed in 36% of neonates.
Conclusion: In the past 12 years we have observed a tendency to better detection of prenatal d-TGA (p <0,05) and to identify d-TGA at earlier gestational age (p=0,006). “Hidden mortality” (before surgery) was higher than postoperative mortality in the neonatal period, however statistically the difference was not significant (p>0,05).
Absent of pulmonary valve syndrome is a rare congenital heart defect, which is diagnosed prenataly in 0,8% of fetuses with congenital heart defect based on the data from National Polish Registry Of Fetal Cardiac Anomalies.
We present a case of pregnat woman and fetus with that heart defect, which was detected in the 1st trimester and treated prenatally with digoxin, amnioreduction, tocolysis and steroids following by the cardiac sugery in the neonatal period. Despite an intensive therapy, the infant died on the 3rd month of age.
We belive that the main reason of poor outcome was premature delivery at the 35th week of gestation.
We present unique cardiac images proving the changing characterists of this type anomay since 1 st trimester
References 1. Słodki M, Szymkiewicz-Dangel J, Włoch A, Radzymińska Chruściel B, Siwińska A, Respondek-Liberska M. Selected data from Polish NationalRegistry of Fetal Cardiac Pathology for the year 2012-Quo Vadis?. Prenat Cardio. 2013 Mar;3(1):5-9. doi 10.12847/03131 2. Kordjalik P, Respondek-Liberska M. HLHS on the basis of a Nationwide Registry of Fetal Cardiac Pathology www.orpkp.pl. Prenat Cardio. 2013 Sep;3(3):18-21. doi 10.12847/09133 3. Słodki M: Opracowanie modelu opieki nad ciężarną z wrodzoną wadą serca u płodu na podstawie nowego prenatalnego podziału
References 1. Slodki M, Szymkiewicz-Dangel J, Tobota Z, Seligman NS, Weiner S, Respondek-Liberska M. The Polish NationalRegistry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors. Prenat Diagn. 2012; 32: 456-60 2. Kordjalik P, Radzymińska Chruściel B, Słodki M, Włoch A, Szymkiewicz-Dangel J, Respondek-Liberska M, Tobota Z.: The Polish NationalRegistry for Fetal Cardiac Pathology (www.orpkp.pl) - selected data analysis for 2013 and 2014 and comparison with data from 2004 to 2012. Prenat Cardio. 2015