AMNIOCENTESIS. Detecting Genetic disorders Amniocentesis- procedure done to pregnant woman to look...

AMNIOCENTESISAMNIOCENTESIS

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)

KARYOTYPE

23

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).  

Down Syndrome

Trisomy 18 , Edwards Syndrome

Kleinfelter, XXY

Turners Syndrome, X0

YO Lethal- die ( Monosomy Y)

Prader- Willie Syndrome

Patau, Trisomy 13

Superfemale, XXX