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Structures are forming kiv anomaly abnormal structure

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structures are forming k.iv. Anomaly - abnormal structure, often congenital l. Diagnostic Tools l.i. Testing may be available prior to conception, during first trimester, newborn l.ii. Testing recommended for: family history, birth to child with abnormality, high risk for specific disease, pregnant >35 years l.iii. Birth defects (minor or severe) occur in 1 out of 28 live births l.iv. Blood tests of pregnant women: alpha fetoprotein testing (AFP), hCG and uE3 and inhibin-A l.iv.1. Abnormal levels indicate spina bifida or down syndrome l.v. Amniocentesis and chronic villus assay- utero testing- extraction of amniotic fluid from the uterus to examine a sample of fetal tissue l.vi. Neonatal testing: blood testing & excreted metabolites (PKU & hypothyroidism) l.vi.1. Neonates - newborn child- tested approximately 48 hours after birth using blood from a heel prick m. Genetic Engineering- isolating, copying and transplanting genes in microorganisms, plants, animals, and humans
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m.i. Used in agriculture to produce transgenic or genetically modified food m.ii. Ultimate goal: insert normally functioning allele to eliminate genetic defects m.iii. Technically possible but clinical trials have not been uniformly successful n. Gene Therapy- identifies gene and protein responsible for condition n.i. Determines how gene expression is controlled n.ii. Produces drug that will inhibit gene expression n.iii. Research focus on cancer growth promoters has resulted in such drugs o. Genetic Screening & DNA Testing- o.i. Screening at risk populations for a specific allele o.ii. Costly & concerns regarding privacy and access issues o.iii. DNA testing- identify individuals for paternity or forensic purposes o.iv. Legislation has been drafted in the US to protect genetic rights of individuals o.iv.1. Health care, employment, insurance
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