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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
Elevated alpha-fetoprotein refers to a state where alpha-fetoprotein levels are outside of the reference range. There are two categories of AFP tests: tests performed on serum (blood plasma) , and tests performed on amniotic fluid .
The failure of the circulatory system of the newborn to adapt to these changes by lowering PVR leads to persistent fetal circulation. [2] The newborn is therefore born with elevated PVR, which leads to pulmonary hypertension. Because of this, the condition is also widely known as persistent pulmonary hypertension of the newborn (PPHN). [3]
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 deadline for the United States to begin using ICD-10-CM for diagnosis coding and Procedure Coding System ICD-10-PCS for inpatient hospital procedure coding was set at October 1, 2015, [51] [52] a year later than the previous 2014 deadline. [53] Before the 2014 deadline, the previous deadline had been a year before that on October 1, 2013.
In one study, [30] CAH screening had the lowest positive predictive value (111 true-positive cases among 20,647 abnormal screening results in a 2-year period, or 0.53%, compared with 6.36% for biotinidase deficiency, 1.84% for congenital hypo-thyroidism, 0.56% for classic galactosemia, and 2.9% for phenylketonuria). According to this estimate ...
Polycythemia is defined as serum hematocrit (Hct) or hemoglobin (HgB) exceeding normal ranges expected for age and sex, typically Hct >49% in healthy adult men and >48% in women, or HgB >16.5 g/dL in men or >16.0 g/dL in women. [8]
President George W. Bush signed the Newborn Screening Saves Lives Act of 2007 (Pub.L.110-204) (NBSSLA) into law on April 24, 2008, a day before DNA Day.The Act amended the Public Health Service Act to establish grant programs concerning newborn screening education and outreach, as parents are often unaware that newborn screening takes place and the number and types of screening varies across ...