MPTRVT

Congenital hypothyroidism (CH) is an endocrine disorder of newborns characterized by the decreased levels of thyroid hormones: thyroxine (T4) and triiodothyronine (T3) in periferal blood. In early perinatal period manifestations of CH are often non-specific, subtle or even non-existent [1-2]. However, the disease, if undiagnosed and untreated, leads to severe

Cystic Fibrosis (CF) is an autosomal recessive disorder affecting the lungs, pancreas, intestine and liver. CF is the most common in Caucasians with an incidence rate 1:2500 newborns. CF is caused by mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CTFR) [1,2]. Large-scale neonatal screening for CF is performed by indentification of increased levels of immunoreactive trypsinogen (IRT) in blood.