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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.
Thyroid function tests (TFTs) is a collective term for blood tests used to check the function of the thyroid. [1] TFTs may be requested if a patient is thought to suffer from hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid), or to monitor the effectiveness of either thyroid-suppression or hormone replacement therapy.
TSH levels are determined by a classic negative feedback system in which high levels of T3 and T4 suppress the production of TSH, and low levels of T3 and T4 increase the production of TSH. TSH levels are thus often used by doctors as a screening test, where the first approach is to determine whether TSH is elevated, suppressed, or normal. [25]
TSH values may also be lower than normal (particularly in the first trimester) and the normal range should be adjusted for the stage of pregnancy. [ 8 ] [ 44 ] In pregnancy, subclinical hypothyroidism is defined as a TSH between 2.5 and 10 mIU/L with a normal thyroxine level, while those with TSH above 10 mIU/L are considered to be overtly ...
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
The therapeutic target range TSH level for patients on treatment ranges between 0.3 and 3.0 μIU/mL. [18] For hypothyroid patients on thyroxine, measurement of TSH alone is generally considered sufficient. An increase in TSH above the normal range indicates under-replacement or poor compliance with therapy.
Newborn screening for a large number of hemoglobinopathies is done by detecting abnormal patterns using isoelectric focusing, which can detect many different types of abnormal hemoglobins. [22] In the United States, newborn screening for sickle cell disease was recommended for all infants in 1987, however it was not implemented in all 50 states ...
Stress suppresses TSH, [5] and alterations in thyroid hormone levels may arise in psychiatric illness. In major depressive disorder, an NTIS-like phenotype may be observed, with reduced T3 and increased rT3. T4 may be elevated, and TSH is usually normal, although TSH's normal circadian rhythm may be disrupted. [2]