Objective 13

TSWBAT explain how

carrier rectognition, fetal
testing and newborn
screening can be used in
genetic screening and
counseling.
Genetic Testing and Counseling

• Genetic counselors can provide information to

prospective parents concerned about a family history
for a specific disease.

• Using family histories, genetic counselors help

couples determine the odds that their children will
have genetic disorders.
• For a growing number of diseases, tests are available
that identify carriers and help define the odds more
accurately.

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fetal Testing

• In amniocentesis, the liquid that bathes the

fetus is removed and tested.
• In chorionic villus sampling (CVS), a sample
of the placenta is removed and tested.
• Other techniques, such as ultrasound and
fetoscopy, allow fetal health to be assessed
visually in utero.

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

 Amniotic fluid
withdrawn

Fetus Centrifugation
Fetus
Suction tube
inserted
Placenta through
Placenta Chorionic
Uterus Cervix villi cervix

Fluid
Bio-
Fetal Several chemical
cells hours tests Fetal
Several
cells
hours
Several
weeks

Several Several
weeks hours
Karyotyping
(1) Amniocentesis (2) Chorionic villus sampling (CVS)
Newborn Screening

• Some genetic disorders such as PKU can be

detected at birth by simple tests that are now
routinely performed in most hospitals in the
United States.
• PKU cannot be cured but can be controlled by
diet.

Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Degree of dominance Description Example

Complete dominance Heterozygous phenotype

of one allele same as that of homo- PP Pp
zygous dominant

Incomplete dominance Heterozygous phenotype

of either allele intermediate between
the two homozygous
phenotypes
C RC R C RC W CWCW

Codominance Heterozygotes: Both

phenotypes expressed IAIB

Multiple alleles In the whole population, ABO blood group alleles

some genes have more
than two alleles IA , IB , i

Pleiotropy One gene is able to Sickle-cell disease

affect multiple
phenotypic characters
:
Relationship among
genes Description Example

Epistasis One gene affects BbCc BbCc

the expression of
another BC bC Bc bc
BC
bC
Bc
bc

9 :3 :4

Polygenic A single phenotypic

character is AaBbCc AaBbCc
inheritance affected by
two or more genes