Notes in g. Genetic Technologies

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Status	Last Update	Fields
Published	07/28/2024	{{c1::Analytical validity}} determines how accurate a test is; what proportion of all mutations in a gene are picked up and are all the genes associat…
Published	07/28/2024	{{c1::Clinical validity}} determines how accurately a test detects or predicts the presence or absence of a {{c1::disease}}. Clinical Utility: wh…
Published	07/28/2024	High {{c1::analytical}} validity predicts accuracy of the {{c2::test results }}
Published	07/28/2024	High {{c1::clinical}} validity shows how well a test {{c2::predicts disease}}
Published	07/28/2024	Clinical utility shows {{c1::pros and cons}} of using the test
Published	07/28/2024	Clinical utility in prenatal genetics
Published	07/28/2024	Screening includes {{c1::biochemical}} screening or {{c2::ultrasound}}
Published	07/28/2024	Diagnostic procedures include {{c1::ultrasound}}, {{c2::chorionic vilus}} sampling, and {{c3::amniocentesis}}
Published	07/28/2024	Genetic testing is {{c1::not the same}} as genetic counseling
Published	07/28/2024	Maternal risk for aneuploidy increases after age {{c1::35}}
Published	07/28/2024	{{c1::Maternal serum AFP}} can be used to screen for {{c2::Spina Bifida}}
Published	07/28/2024	Fetuses with Spina Bifida show {{c1::higher}} AFP
Published	07/28/2024	{{c1::Soft signs}} appear on ultrasound as a sign of {{c2::down syndrome}}
Published	07/28/2024	Biochemical screening for down syndrome includes a {{c1::first trimester screen}} or a second trimester {{c2::quad screen}}
Published	07/28/2024	Ultrasound screening options for down syndrome include {{c2::NT}} ultrasound as well as {{c1::fetal survey}} ultrasound
Published	07/28/2024	Following positive results, {{c1::diagnostic testing}} is offered
Published	07/28/2024	Ultrasound is both a {{c1::screening}} tool and a {{c1::diagnostic}} tool
Published	07/28/2024	Ultrasound can be used as a diagnostic tool for specific {{c1::structural abnormalities}}
Published	07/28/2024	Diagnostic procedures used for genetic testing in pregnancy include the {{c1::chorionic villus sampling}} and {{c1::amniocentesis}}
Published	07/28/2024	Chorionic villus sampling is the {{c1::first}} trimester option
Published	07/28/2024	Amnio is the {{c1::second}} trimester option
Published	07/28/2024	cfDNA uses a {{c1::blood draw}} from mom to obtain information from {{c2::placental}} DNA
Published	07/28/2024	cfDNA was developed to screen for {{c1::Down Syndrome}} but it is still only a {{c1::screen}}
Published	07/28/2024	cfDNA is an indirect measure and can be complicated by {{c1::placentral chromosome}} makeup not matching {{c1::fetal chromosome}} makeup as well as {{…
Published	07/28/2024	Detection rate is calculated out of the {{c1::whole population}}
Published	07/28/2024	Screening and diagnostic testing should be offered to all pregnant women {{c1::early in pregnancy}} regardless of {{c1::maternal age}} or baseline ris…
Published	07/28/2024	cfDNA screening can be offered as early as {{c1::10 weeks}} of pregnancy
Published	07/28/2024	Carrier screening is genetic testing to determine the {{c1::carrier status}} of an individual
Published	07/28/2024	ACMG recommends all pregnant patients or those planning pregnancy should be offered {{c1::carrier screening}}
Published	07/28/2024	All pregnant patients and those planning pregnancy should be offered {{c1::tier 3}} carrier screening
Published	07/28/2024	{{c1::Preimplantation genetic testing (PGT)}} requires in vitro fertilization
Published	07/28/2024	PGT-A : {{c1::Aneuploidy}}PGT-M: {{c2::Mendellian }}PGT-sr: {{c3::Structural rearrangements}}
Published	07/28/2024	Polygenic risk scores for {{c1::complex diseases}} estimate an individual's {{c1::risk for a trait}}
Published	07/28/2024	Polygenic risk scores take into account a {{c1::multitude}} of factors
Published	07/28/2024	Polygenic risk scores in pre-implantation genetic testing is an {{c1::unproven}} and {{c1::unethical}} practice
Published	07/28/2024	Concerns about cfDNA include {{c1::expansion beyond common aneuploidies}}
Published	07/28/2024	Has technology {{c1::outpaced}} our ability to {{c1::understand and provide}} genetic testing in an equitable manner
Status	Last Update	Fields