BISC105 Lecture Notes - Lecture 36: Prenatal Diagnosis, Chorionic Villus Sampling, Ploidy

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Human heredity and development review session 12/12/15. Objectives of screening are for medical intervention & counseling about reproductive options (disease prevention) Ex: screen for pku, don"t want to wait until the baby is affected by pku. Screening programs: newborn (mass screening) (ex: pku), prenatal screening (individuals who have inherited a condition that will impair quality of life. Parent will be given choice to carry pregnancy to term), carrier screening. Prenatal: older mothers have higher trisomies so tend to be tested. Amniocentesis 14-16 weeks (remove the fluid and test. Can look directly for alpha-pheta protein for neural fetal defects) or chorionic villi sampling 8-11 weeks are more effective because parents have more time to decide whether they want to keep the baby. Can also test with ultrasounds for heart defects or fetoscopy which is used very infrequently. Has been non-invasive prenatal diagnosis with fetal dna in mother"s blood. Old mom, translocation carrier parent, previous child chromosome defect.

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