Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000-100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-BlowNK+ SCID, one case of atypical Tlow BlowNK+ CID, one case of autosomal recessive agammaglobulinemia, and one case of Nijmegen breakage syndrome. Among four other positive results, three infants presented with T- and/or B-cell lymphopenia due to either the mother's immunosuppression, prematurity, or unknown reasons, which resolved or almost normalized in the first months of life. One newborn was classified as truly false positive. The overall positive predictive value (PPV) for the diagnosis of severe PID was 50.0%. This is the first population screening study that allowed identification of newborns with T and/or B immunodeficiency in Central and Eastern Europe.

[Maternal serum procalcitonin concentrations in preterm labour complicated with premature rupture of membranes]. / Stezenie prokalcytoniny (PCT) w surowicy krwi ciezarnych z przedwczesnym peknieciem blon plodowych w ciazy niedonoszonej.

The aim of this study was the evaluation of serum procalcitonin (PCT) concentrations in pregnancy complicated by premature rupture of membranes (PROM) before 36 weeks of gestation. The study group consisted of 42 women with PROM between 25. and 35. week of pregnancy. The control group comprised 38 patients between 24.-35. weeks of pregnancy in acute phase of imminent preterm labor with intact membranes. All of them, after successful treatment in the hospital, delivered near term. In both groups serum PCT concentrations were higher than in healthy patients without pregnancy as compared to literature data. It was also stated that in women with PROM before 36. week of gestation serum PCT concentrations are significantly higher than in pregnant women in acute phase of imminent preterm labor with intact membranes who after successful treatment deliver near term.

[Procalcitonin as a marker of perinatal infection in newborn--preliminary data]. / Prokalcytonina jako parametr pomocny w rozpoznawaniu zakazenia wrodzonego.

UNLABELLED: Intrauterine and intrapartum infections in newborn infants are still difficult to recognise. The newborn does not manifest the classic clinical signs of infection usually observed in children and adults and up to now there is no good laboratory marker. In the last few years, procalcitonin (PCT) has been found to increase during different inflammatory processes, especially bacterial ones. In this study we analysed the clinical value of PTC in parturient, umbilical cord and newborn blood for predicting perinatal infection. MATERIAL AND METHODS: Thirty parturients with symptoms of intrauterine infection were classified for this study. Blood samples were obtained from the mother, the umbilical cord and the newborn on the second day of life. Serum was stored at -70 degrees C and thawed at the time of analysis. Among the newborns there were 21 infants without and 9 with symptoms and signs of infection. PCT concentration was measured by immunoluminometric assay--LUMI test PCT (BRAHMS). RESULTS: Statistically significant results were found on the second day of life: 5.83 (4.70) ng/ml in ill, 1.41 (0.68) ng/ml in healthy (p < 0.0005). We observed a significant correlation between PCT concentration in mother and umbilical cord blood (y = 0.40x + 1.06; p < 0.05), as well as between umbilical cord blood and venous blood on the second day of life in newborns (y = 0.16x 1.21; p < 0.01). CONCLUSIONS: Measurement of PCT concentration in perinatal period in the mother and in umbilical cord blood of the newborn may be useful for early diagnosis and monitoring of infectious complications in neonates. We need more data on reference ranges of PCT concentration in pregnant women, parturients and umbilical cord blood.