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AMNIOCENTESIS AMNIOCENTESIS

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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Page 1: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

AMNIOCENTESISAMNIOCENTESIS

Page 2: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 3: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 4: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 5: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 6: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

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 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)

Page 7: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 8: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 9: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

KARYOTYPE

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Page 12: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 13: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 14: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 15: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 16: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 17: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Abnormal Chromosomes NumberMonosomy- 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 syndrome (trisomy 21), Edwards syndrome (trisomy 18), Turner syndrome (monosomy X).  

Page 18: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Down Syndrome

Page 19: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Trisomy 18 , Edwards Syndrome

Page 20: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20
Page 21: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Kleinfelter, XXY

Page 22: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Turners Syndrome, X0

YO Lethal- die ( Monosomy Y)

Page 23: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Prader- Willie Syndrome

Page 24: AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look at the chromosomes of her unborn child 14-20

Patau, Trisomy 13

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Superfemale, XXX