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The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
The goal of newborn screening programs is to detect and start treatment within the first 1–2 weeks of life. Treatment consists of a daily dose of thyroxine, available as a small tablet. The generic name is levothyroxine, and several brands are available. The tablet is crushed and given to the baby with a small amount of water or milk.
Congenital iodine deficiency has been almost eliminated in developed countries through iodine supplementation of food and by newborn screening using a blood test for thyroid function. [5] Treatment consists of lifelong administration of thyroxine (T4). Thyroxine must be dosed as tablets only, even to newborns, as the liquid oral suspensions and ...
Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy. [ 100 ] [ 102 ] Tandem mass spectroscopy can also be used for IEM, and investigation of sudden infant death, and shaken baby syndrome.
If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin ...
The infantile-onset (IOPD) form usually comes to medical attention within the first few months of life, either clinically or through newborn screening.The usual presenting features are cardiomyopathy, cardiomegaly, hypotonia, respiratory distress, muscle weakness, feeding difficulties, and failure to thrive.
The unborn baby can become infected at any time during the pregnancy. [4] Most cases occur due to inadequate antenatal screening and treatment during pregnancy. [8] The baby is highly infectious if the rash and snuffles are present. [4] The disease may be suspected from tests on the mother; blood tests and ultrasound. [9]