Future Health Romnia sprijina parintii si ofera posibilitatea de a face Baby Screeningul in primele 72 de ore dupa nasterea bebelusului

Mai mult de 1000 de parinti din Romania au ales deja sa faca testul! Screeningul neonatal este un test pentru care sunt necesare cateva picaturi de sange pe o hartie speciala de filtru recoltate la scurt timp dupa nasterea copilului, si care poate ridica suspiciunea unor boli metabolice, endocrinologice sau hematologice. Afectiunile metabolice ascunse sau erorile innascute de metabolism sunt probleme de sanatate dificil sau imposibil de detectat prin intermediul unei examinari clinice de rutina, deoarece nou-nascutul nu prezinta simptomatologie la nastere, iar istoricul familial nu prezinta de multe ori aceste informatii. Este important ca rezultatele acestor screeninguri sa se regaseasca in fisa medicala a bebelusului inca din primele 2 saptamani de viata. Acestea screeninguri se pot face cel tarziu pana in primele 12 luni de viata ale bebelusului. De ce sunt screenigurile vital de importante? Aproximativ 4 milioane de astfel de screeninguri metabolice sunt facute in SUA, in primele ore dupa nasterea bebelusului. Dintre acestea, intre 6000 si 7000 de bebelusi sunt diagnosticati anual cu disfunctii genetice. Mai multe info aici http://babyscreening.md/cazuri ALEGE SA FACI TESTUL DUPA NASTERE! 277 RON + TVA pentru Testarea a 48 Disfunctii Metabolice 350 RON + TVA pentru Testarea Pachetului Complet de 50 Disfunctii Metabolice Printre afeciunile care pot fi depistate se numr urmatoarele: 15 defecte de metabolizare ale aminoacizilor, deficiene n oxidarea acizilor grai i furnizarea de energie, hipotiroidismul congenital, deficiena de metabolizare a aminoacizilor, hiperplazia congenital de suprarenal, deficiena de biotinaz s.a.

Pentru informaii complete despre cele 3 Pachete disponibile, SUNAI la 0733.000.176

Lista completa a celor 50 Screeninguri complete Neonatale:

1. Argininemia 2. Argininosuccinic aciduria (ASA lyase deficiency) 3. Biopternin Regeneration Defects /Biopternin Biosynthesis Defects 4. Carbamoylphosphate synthetase deficiency 5. Citrullinemia 6. Homocystinuria 7. Hypermethioninemia 8. Hyperammonemia, hyperornithinemia, Homocitrullinemia syndrome (HHH) 9. Hyperornithinemia with gyral atrophy of the choroid and retina 10. Maple syrup urine disease (MSUD) 11. Nonketotic hyperglycinemia (glycine encephalopathy) 12. Ornithine Transcarbamylase deficiency 13. Phenylketonuria 14. Transient neonatal tyrosinemia 15. Tyrosinemia type I 16. Tyrosinemia type II 17. Tyrosinemia type III Disfunctii ale metabolismului acizilor grasi 18. Short chain acyl CoA dehydrogenase deficiency 19. Short chain hydroxyacyl CoA dehydrogenase deficiency 20. Medium chain acyl CoA dehydrogenase deficiency (MCADD) 21. Long chain 3-hydroxyacyl CoA dehydrogenase deficiency ( LCHADD ) 22. Very long chain acyl CoA dehydrogenase deficiency ( VLCADD ) 23. Carnitine/acylcarnitine translocase deficiency 24. Carnitine uptake defect

25. Carnitine palmitoyl transferase deficiency type I 26. Carnitine palmitoyl transferase deficiency type II 27. Glutaryl CoA dehydrogenase deficiency type II (Glutaric acidemia type II) 28. Trifunctional protein deficiency 29. Medium chain 3-ketoacyl CoA thiolase deficiency Disfunctii ale metabolismului altor acizi organici 30. Adenosylcobalamin synthesis defect 31. Isovaleric acidemia (Isovaleryl CoA dehydrogenase deficiency) 32. Isobutyryl CoA dehydrogenase deficiency 33. Glutaryl CoA dehydrogenase deficiency type I (Glutaric acidemia type I) 34. Malonyl CoA decarboxylase deficiency (malonic aciduria) 35. Methylmalonic acidemia (MMA) 36. 3-Methylcrotonyl CoA carboxylase deficiency (biotinidase deficiency) 37. Methylmalonyl CoA mutase deficiency 38. 3-Hydroxy-3-methyl glutaryl CoA liase deficiency ( HMG CoA liase deficiency ) 39. 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency 40. Multiple CoA carboxylase deficiency (MCD) (holocarboxylase synthetase deficiency) 41. Maternal vitamin B12 deficiency 42. Mitochondrial acetoacetyl CoA thiolase deficiency (betaketothiolase deficiency) 43. Propionyl CoA carboxylase deficiency (propionic acidemia) 44. Ethylmalonic encephalopathy 45. Formiminoglutamic aciduria 46. 2-methylbutyryl CoA dehydrogenase deficiency 47. 3-methylglutaconyl CoA hydratase deficiency Disfunctii endocrinologice: 48. Congenital Hypothiroidism 49. Congenital Adrenal Hyperplasia (CAH) 50. Galactosemia