AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

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AMNIOCENTESIS Slide 2 Slide 3 Slide 4 Slide 5 Slide 6 Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20 Chorionic villus sampling (CVS) done earlier Can detect some genetic disorders It cant cure them it can only detect them Usually done on a woman with a history of genetic disorders Or a woman at high risk (over 35) Do a ultrasound first to detect where the baby is ( fetal cells floating around) Make a Karyotype from the babys cells Karyotye- picture of the chromosomes of a cell, grouped into pairs (Microscope) Look for an abnormal number of chromosomes- should have 46 ( stained) Slide 7 Slide 8 Slide 9 KARYOTYPE Slide 10 Slide 11 23 Slide 12 Slide 13 Slide 14 Slide 15 Slide 16 Slide 17 Abnormal Chromosomes Number Monosomy- only one chromosomes of a usual pair is present ( Mono means one) Trisomy- 3 copies of a chromosome instead of the usual pair (2) ( tri means 3) The most common abnormalities detected are Down syndromeDown syndrome (trisomy 21), Edwards syndromeEdwards syndrome (trisomy 18), Turner syndromeTurner syndrome (monosomy X). Slide 18 Down Syndrome Slide 19 Trisomy 18, Edwards Syndrome Slide 20 Slide 21 Kleinfelter, XXY Slide 22 Turners Syndrome, X0 YO Lethal- die ( Monosomy Y) Slide 23 Prader- Willie Syndrome Slide 24 Patau, Trisomy 13 Slide 25 Superfemale, XXX