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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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Presentation on theme: "AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20."— Presentation transcript:

1 AMNIOCENTESIS

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6 Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 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 baby’s cells Karyotye- picture of the chromosomes of a cell, grouped into pairs (Microscope)  Look for an abnormal number of chromosomes- should have 46 ( stained)

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9 KARYOTYPE

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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).

18 Down Syndrome

19 Trisomy 18, Edwards Syndrome

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21 Kleinfelter, XXY

22 Turners Syndrome, X0 YO Lethal- die ( Monosomy Y)

23 Prader- Willie Syndrome

24 Patau, Trisomy 13

25 Superfemale, XXX


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