It is always important that the blood sample collection in newborns needs to be non-invasive and less painful. Further, the amount of samples collected from newborns is also a significant factor as every newborn possesses a different health condition. In these scenarios, collecting blood from the baby’s heel is considered to be safe. Such collected…
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands’ ability to produce certain hormones, particularly cortisol and aldosterone. Further, 95 % CAH cases are due to 21-Hydroxylase deficiency (21-OHD) which is responsible for the conversion of 17-Hydroxyprogesterone (17-OHP) to cortisol. If CAH is left undetected or poorly managed, it can lead…
Early Identification of Severe Combined Immunodeficiency (SCID) Through Newborn Screening Severe Combined Immunodeficiency (SCID) is a rare, life-threatening genetic disorder that severely impairs the immune system’s ability to protect the body from infections. SCID is often called bubble boy disease” due to its portrayal in popular culture. Infants born with SCID lack functional T cells…
Cystic Fibrosis- What if it is Left Undetected and clinical significance of Newborn Screening Cystic Fibrosis (CF) is a progressive, genetic (inherited) disorder primarily affecting the respiratory and digestive systems. While significant progress has been made in managing this condition, early detection remains crucial for ensuring better outcomes and improving the quality of life for…
Newborn screening is a vital public health program to identify certain genetic, metabolic, and congenital disorders in newborn babies. This non-invasive procedure involves a simple heel prick to collect a small blood sample, which is then tested for various conditions. The importance of newborn screening cannot be overstated, as it plays a crucial role in…