Incidental findings
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Incidental medical findings are previously undiagnosed medical or psychiatric conditions that are discovered unintentionally and during evaluation for a medical or psychiatric condition. Such findings may occur in a variety of settings, including routine medical care, during
biomedical research Medical research (or biomedical research), also known as experimental medicine, encompasses a wide array of research, extending from " basic research" (also called ''bench science'' or ''bench research''), – involving fundamental scienti ...
, during post-mortem
autopsy An autopsy (post-mortem examination, obduction, necropsy, or autopsia cadaverum) is a surgical procedure that consists of a thorough examination of a corpse by dissection to determine the cause, mode, and manner of death or to evaluate any d ...
, or during
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
.


Medical imaging

An incidentaloma is a
tumor A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
found by coincidence which is often benign and does not cause any clinically significant
symptoms Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showi ...
; however a small percentage do turn out to be malignant. Incidentalomas are common, with up to 7% of all patients over 60 harboring a benign growth, often of the
adrenal gland The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol. They are found above the kidneys. Each gland has an outer cortex ...
, which is detected when
diagnostic imaging Medical imaging is the technique and process of imaging the interior of a body for clinical analysis and medical intervention, as well as visual representation of the function of some organs or tissues ( physiology). Medical imaging seeks to r ...
is used for the analysis of unrelated symptoms. As 37% of patients receiving whole-body CT scan may have abnormal findings that need further evaluation and with the increase of "whole-body CT scanning" as part of health screening programs, the chance of finding incidentalomas is expected to increase.


Neuroimaging

Incidental findings in neuroimaging are common, with the prevalence of
neoplastic A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
incidental brain findings increasing with age. Even in healthy subjects acting as controls in research incidental findings are not rare. As most neuroimaging studies are performed in adults, less is known about the prevalence incidental findings in children. A study in 2017 in nearly 4000 children between 8 and 12 reported that approximately 1 in 200 children showed asymptomatic incidental findings that required clinical follow-up. Pituitary adenomas are
tumor A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
s that occur in the
pituitary gland In vertebrate anatomy, the pituitary gland, or hypophysis, is an endocrine gland, about the size of a chickpea and weighing, on average, in humans. It is a protrusion off the bottom of the hypothalamus at the base of the brain. The h ...
, and account for about 15% of intracranial
neoplasms A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
. They often remain undiagnosed, and are often an incidental finding during autopsy. Microadenomas (<10mm) have an estimated prevalence of 16.7% (14.4% in
autopsy An autopsy (post-mortem examination, obduction, necropsy, or autopsia cadaverum) is a surgical procedure that consists of a thorough examination of a corpse by dissection to determine the cause, mode, and manner of death or to evaluate any d ...
studies and 22.5% in radiologic studies).


Genetic testing

Unintentional genetic findings (aka "incidentalomes") are more commonly encountered with the advent of biomedical technologies capable of quickly and reliably performing genomic analysis, such as whole-genome sequencing. As with medical imaging, the capacity to measure biologic information in the form of genetic variation may exceed the scientific understanding of what the findings mean. In 2013, the American College of Medical Genetics and Genomic Working Group on Incidental Findings published preliminary guidelines for clinical laboratories that perform clinical exome and genome sequencing. They outlined a list of "medically actionable" pathogenic gene mutations, mostly monogenetic or single-gene disorders, which were significantly associated with important medical diagnoses and which should be reported to the patient "regardless of the proband’s phenotype or age".


References

{{reflist Medical terminology