Notes in c. Clinical Genetics

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Status	Last Update	Fields
Published	07/28/2024	{{c1::Sensitivity}} or true positive rate is ability to detect {{c1::affected}} subjects or the frequency of a positive result when disease is present…
Published	07/28/2024	{{c1::Specificity}} is the true negative rate or frequency of negative results when the disease is absent = B/B+D
Published	07/28/2024	The {{c1::false positive rate}} is equivalent to 1-B/B+D (specificity) or D/B+D
Published	07/28/2024	The {{c1::False Negative Rate}} is equal to 1-A/A+C (sensitivity) = C/A+C
Published	07/28/2024	The {{c1::Positive predictive value}} is the frequency of affected positive tests per all positive tests. Equivalent to {{c2::A/(A+B)}}. If disea…
Published	07/28/2024	The {{c1::Negative predictive value}} is the frequency of non-affected negative tests per all negative tests. Equivalent to {{c2::D/D+C}}. Residu…
Published	07/28/2024	Teratogenesis is the development of fetal and embryonic {{c1::malformations}} that are caused by {{c1::teratogens}} which influence development by alt…
Published	07/28/2024	Teratogen exposure {{c1::before implantation}} generally results in spontaneous abortions of normal fetuses
Published	07/28/2024	Teratogen exposure {{c1::after implantation before week 10}} results in malformations
Published	07/28/2024	Teratogen exposure {{c1::after 10 weeks}} results in intrauterine growth restriction, mental impairment or intellectual disability, microcephaly,…
Published	07/28/2024	For women with diabetes, {{c1::lack of glucose control}} can determine the risk and severity of potential malformations observed in offspring
Published	07/28/2024	General considerations about clinical testing is that a clinical {{c1::diagnosis (pre-test hypothesis)}} must be formed and screening tests are typica…
Published	07/28/2024	Early identification can be done via {{c1::pre-implantation}} genetic testing, fetal screening via {{c1::prenatal DNA analysis}} via {{c1::Amniocentes…
Published	07/28/2024	{{c1::Multiple marker screening test}} (quad screen test) is a fetal screening for genetic disease that measures the maternal {{c1::serum levels}} of …
Published	07/28/2024	{{c1::Nuchal translucency test}} is an ultrasound test that looks for {{c1::collection of fluid}} under the skin behind the neck in the first-trimeste…
Published	07/28/2024	Newborn screening done in every state but varies where major tests screen for {{c1::PKU, thalassemia, sickle cell anemia, and cystic fibrosis}}
Published	07/28/2024	Carrier detection identifies individuals at risk of {{c1::transmitting}} a disease based on {{c1::family}} history or {{c1::population}}, often f…
Published	07/28/2024	1st step in calculating predictive probability:
Published	07/28/2024	2nd step in calculating predictive probability:
Published	07/28/2024	3rd and 4th step in calculating predictive probability:
Published	07/28/2024	5th step in calculating predictive probability:
Published	07/28/2024	6th step in calculating predictive probability:
Published	07/28/2024	Newborn screening tests are {{c1::population}} based and mandated by law. Paradigm examples include {{c1::PKU}} which is treatable via dietary restric…
Published	07/28/2024	{{c1::Guthrie}} test screens for PKU where high blood concentration of PKU would reverse {{c1::beta-2-thienylalanine}} inhibition of B. subtilis with …
Published	07/28/2024	Explain key Michigan Newborn Screening program requirements and what is the incidence of preventable/treatable disorders
Published	07/28/2024	When are genetic tests used to identify disease and includes what factors influence decision?
Published	07/28/2024	Whitehall II prospective study and HuGE reviews showed that there is {{c1::insufficient}} evidence for forming genotypic risk models for common diseas…
Published	07/28/2024	Next-generation sequencing brings up which concerns?
Published	07/28/2024	Drugs that can be used during pregnancy are classified by FDA in categories {{c1::A (least risky), B, C, D, X (drugs is contraindicated)}}
Published	07/28/2024	Infection teratogens include {{c1::Zika}}, {{c1::Maternal Rubella}}, and {{c1::Cytomegalovirus Infection}} where risk is highest in {{c1::first}} trim…
Published	07/28/2024	Maternal diabetes mellitus is a {{c1::maternal factor}} teratogen that is associated with increased incidence of stillbirths, malformations, growth di…
Published	07/28/2024	Aberrant gene {{c1::methylation}} is an example of an environment-genome teratogen
Published	07/28/2024	Alcohol an example of a {{c1::maternal chemical exposure}} teratogen causing {{c1::intellectual}} disability and any alcohol can be toxic because it k…
Published	07/28/2024	Knowing family history is important because it provides information about {{c1::differential diagnosis}}, {{c1::prognosis}}, disease {{c1::prevention}…
Published	07/28/2024	Additivity principle: If two events are {{c1::mutually exclusive}} the probability of one or the other is the {{c1::sum}} of their probabilities
Published	07/28/2024	Independence principle: The probability of joint occurrence of two {{c1::independent}} events is the {{c1::product}} of their separate probabilities
Published	07/28/2024	Bayes theorem is {{c1::updating}} an initial probability assessment or {{c1::prior probability}} with additional data (estimating the joint occurrence…
Published	07/28/2024	First step in Bayes theorem
Published	07/28/2024	2nd and 3rd steps in Bayes theorem
Published	07/28/2024	4th step in Bayes theorem
Status	Last Update	Fields