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Newborn Screening for Diseases and Disorders

About Newborn Screening for Diseases and Disorders

Newborn screening refers to tests that aim to find out the risk of developing uncommon but severe medical conditions that could affect the growth in infants. It seeks to identify metabolic, genetic and developmental disorders as early as possible. Newborn screening allows for rapid diagnosis of the conditions of newborns and then initiating treatment, at the earliest possible time. The forms of newborn screening tests include hearing test, blood tests and critical congenital heart disease screen. Infants undergo a simple blood test, as soon as they are born to look for conditions that do not manifest directly after birth. Galactosemia, biotinidase deficiency, maple syrup urine disease, congenital hypothyroidism, sickle cell disease, homocystinuria, hearing loss and congenital adrenal hyperplasia are a few of the conditions that may be detected during newborn screening tests. This book explores all the important aspects of newborn screening in the modern day. It provides comprehensive insights on newborn screening and its significance in the diagnosis of diseases and disorders. This book will prove to be immensely beneficial to students and researchers in the field of pediatrics.

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  • Language:
  • English
  • ISBN:
  • 9781639277544
  • Binding:
  • Hardback
  • Pages:
  • 239
  • Published:
  • September 25, 2023
  • Dimensions:
  • 216x14x279 mm.
  • Weight:
  • 844 g.
Delivery: 2-3 weeks
Expected delivery: August 21, 2025

Description of Newborn Screening for Diseases and Disorders

Newborn screening refers to tests that aim to find out the risk of developing uncommon but severe medical conditions that could affect the growth in infants. It seeks to identify metabolic, genetic and developmental disorders as early as possible. Newborn screening allows for rapid diagnosis of the conditions of newborns and then initiating treatment, at the earliest possible time. The forms of newborn screening tests include hearing test, blood tests and critical congenital heart disease screen. Infants undergo a simple blood test, as soon as they are born to look for conditions that do not manifest directly after birth. Galactosemia, biotinidase deficiency, maple syrup urine disease, congenital hypothyroidism, sickle cell disease, homocystinuria, hearing loss and congenital adrenal hyperplasia are a few of the conditions that may be detected during newborn screening tests. This book explores all the important aspects of newborn screening in the modern day. It provides comprehensive insights on newborn screening and its significance in the diagnosis of diseases and disorders. This book will prove to be immensely beneficial to students and researchers in the field of pediatrics.

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