amniocentesis. detecting genetic disorders amniocentesis- procedure done to pregnant woman to look...
TRANSCRIPT
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