Noninvasive prenatal diagnosis from maternal plasma in serological conflicts in Poland: current practice and future prospects

Abstract The principles and results of noninvasive prenatal diagnosis in serological conflicts in Poland were described in the following work. Noninvasive fetal genotyping from plasma of immunized mother identifies women carrying fetus without incompatible antigen and risk of hemolytic disease. The presence of fetal RHD gene or RHCE*c/E alleles in maternal plasma is examined routinely in Institute of Hematology and Blood Transfusion in Warsaw. Preliminary results of successful fetal KEL*1 genotyping from maternal blood were obtained

Rozwój technologii opartych na metodach biologii molekularnej do oznaczania grup krwi

In recent years, we have been observing the rapid development of molecular research technologies used in immunohematology. They are currently used not only by reference and highly specialized laboratories, but also for massive examinations in blood centers for genotyping clinically relevant antigens in order to increase the availability of donors for patients with allo-antibodies. In the near future, it will be possible to select donors compatible with patients in the most immunogenic antigens for preventing their alloimmunization. With such ambitious plans in mind, advanced technologies are developed around the world, to facilitate mass genotyping of blood cell antigens. The present study discusses molecular methods which may be used for this purpose.W ciągu ostatnich lat obserwuje się gwałtowny rozwój technologii badań molekularnych stosowanych w immunohematologii. Na świecie są one obecnie używane nie tylko przez laboratoria referencyjne i wysokospecjalistyczne, lecz są wdrażane do badań masowych w centrach krwiodawstwa, gdzie służą przede wszystkim do genotypowania klinicznie istotnych antygenów w celu zwiększenia dostępności dawców dla chorych z alloprzeciwciałami. W nieodległej przyszłości będzie też możliwe dobieranie dla chorych zależnych od przetoczeń dawców zgodnych w najbardziej immunogennych antygenach, tak by zapobiegać alloimmunizacji. Z myślą o tak ambitnych planach, są opracowywane na świecie zaawansowane technologie, umożliwiające masowe genotypowanie antygenów komórek krwi. W niniejszym artykule zostaną omówione metody biologii molekularnej przydatne dla takich badań

New observations on granulocyte immunobiology presented during the XIIIth European Symposium on Platelet and Granulocyte Immunobiology (July 3–6th 2014, Bad Homburg, Germany)

BrakNot availabl

New observations on fetal/neonatal alloimmuine thrombocytopenia presented during the XIIIth European Symposium on Platelet and Granulocyte Immunobiology (July 3–6th 2014, Bad Homburg, Germany)

BrakNot availabl

Aspekty radiologiczno-kliniczne raka oskrzelikowo-pęcherzykowego na podstawie wybranych przypadków własnych i danych z piśmiennictwa

The objective of the study was to define characteristic radiological changes during bronchioloalveolar carcinoma in correlation with its various histological forms. Nine cases of bronchioloalveolar carcinoma were diagnosed and treated in the Specialistic Complex of Tuberculosis and Pulmonary Diseases in Rzeszów in the years 2000-2005. The material of the study was analyzed in order to determine characteristic radiological patterns and clinical data. Three patient groups were separated based on different features of radiological images (X ray film and CT) of the chest (infiltrative, tubercular and diffuse forms). Correlation between appearance of characteristic radiological pattern and histological type of bronchioloalveolar carcinoma and clinical symptoms was observed. Study data were compared with data from literature; our study showed that the infiltrative form of CT patterns of the bronchioloalveolar carcinoma is dominant (55,5%) and that it is more frequent in females (67%). It was also confirmed that the bronchioloalveolar carcinoma has no connection with nicotinism. In conclusion, the possibility of diagnosing an infiltrative form of bronchioloalveolar carcinoma in the CT examination with the support of characteristic radiological patterns and clinical data was stressed

Fetal/Neonatal Alloimmune Thrombocytopenia: Pathogenesis, Diagnostics and Prevention

Published version. Source at http://doi.org/10.1007/s00005-015-0371-9.Fetal/neonatal alloimmune thrombocytopenia (FNAIT) is a relatively rare condition (1/1000–1/2000) that was granted orphan status by the European Medicines Agency in 2011. Clinical consequences of FNAIT, however, may be severe. A thrombocytopenic fetus or new-born is at risk of intracranial hemorrhage that may result in lifelong disability or death. Preventing such bleeding is thus vital and requires a solution. Anti-HPA1a antibodies are the most frequent cause of FNAIT in Caucasians. Its pathogenesis is similar to hemolytic disease of the newborn (HDN) due to anti-RhD antibodies, but is characterized by platelet destruction and is more often observed in the first pregnancy. In 75 % of these women, alloimmunization by HPA-1a antigens, however, occurs at delivery, which enables development of antibody-mediated immune suppression to prevent maternal immunization. As for HDN, the recurrence rate of FNAIT is high. For advancing diagnostic efforts and treatment, it is thereby crucial to understand the pathogenesis of FNAIT, including cellular immunity involvement. This review presents the current knowledge on FNAIT. Also described is a program for HPA-1a screening in identifying HPA-1a negative pregnant women at risk of immunization. This program is now performed at the Institute of Hematology and Transfusion Medicine in cooperation with the Department of Obstetrics and Gynecology of the Medical Centre of Postgraduate Education in Warsaw as well as the UiT The Arctic University of Norway

Massive molecular screening for identifying RhD negative blood donors with D weak expression

One of the basic rules of transfusion is to prevent alloimmunisation by highly immunogenic RhD antigen and not to transfuse RhD negative individuals with RhD positive blood. In some cases the expression of this antigen is so weak that it is undetectable in routine serological tests. The paper presents an algorithm for mass DNA testing with the purpose of identifying donors with low RhD expression. The screening is based on RHD gene detection (absent in RhD negative Caucasians) in DNA isolated from pools of 96 plasma samples from blood donors identified as RhD negative by the routine serological methods in Blood Transfusion Centers. Such procedure substantially reduces the costs. Plasma samples can be brought from the territory of the whole country, stored and accumulated for testing in one selected center. The cost would amount to approximately 25 PLN per donor. The test is performed once for each RhD negative individual. It is estimated that such persons will represent approximately 0.2% of RhD negative donors

Coexistence of hemoglobin Handsworth and alpha 3.7 kb deletion in Caucasian woman in Poland

BackgroundThis report presents a case of an adult Polish women of Caucasian origin who was heterozygous for the nondeletional mutation: Hb Handsworth (HBA2 or HBA1: c.55G > C, p.Gly19Arg) and deletional (-α) α-thalassemia mutation. MethodsThe HbA and HbF levels were measured by microcolumn chromatography and alkaline denaturation procedure, respectively, while electrophoresis was used to detect pathological hemoglobin fraction. The β- and α-globin genotypes were determined by DNA sequencing, gap-polymerase chain reaction, α gene triplication and MLPA. ResultsThe HbA and HbF levels were normal, but hemoglobin electrophoresis on agarose gel alkaline pH showed a strong band migration in a position of hemoglobin S and faint bands in the neighborhood of band A on acid electrophoresis. Molecular analysis of the alpha globin cluster detected a point mutation at codon 19 in (c.55G > C, p.Gl- y19Arg) and deletion -α. ConclusionsOur compound heterozygosity does not produce severe clinical or hematological symptoms but it is important to say that in our part of Europe such cases do appear. Molecular analysis of the alpha globin cluster is required for correct diagnosis in patients with normal HbA levels. Compound heterozygosity was unmasked by molecular diagnosis only