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…
Every parent will agree that most babies look healthy and normal at birth. But even the healthiest looking babies can have certain problems that are not evident on a visual analysis. Therefore, newborns are tested for various conditions including metabolic disorders. A metabolic disorder is one that intervenes in the normal process of breakdown and…
While diagnostic examinations have been an important component of medical care for centuries, screening programs have been much more recent. Diagnostic tests determines whether a condition is present with 100% accuracy whereas, a screening test looks at the risk of whether a condition is present. Among the several types of screening programs, newborn screening programs…
Newborn screening or neonatal screening encompasses a series of tests essential for early diagnosis and management to avert disability and death of a baby for number of disorders. These tests are performed after 48 hours of the birth of the baby. Various tests such as hearing screening, critical congenital heart disease tests and dry blood…
While developed nations have finalized their policies for Newborn screening (NBS) and have made NBS a nationwide public health program, the process has just started in India. India has made significant advancements in the field of Newborn screening and is going through a progressive phase of preventive control over infant mortality and morbidity due to…
