Genetic screening

LO: To understand the use of genetic screening and

the issues related
ALL: List the different types of screening
MOST: Describe the implications of prenatal screening
SOME: Evaluate the ethical and social issues related to screening
KEYWORDS
Genetic screening STARTER
Prenatal screening
1. What is the difference between
Amniocentesis genetic screening and prenatal
Chronic villus sampling screening?
EXT: How might a genetic
screening be used for a family with
a history of cystic fibrosis?
 “Genetic disorders should not
be corrected using gene therapy.
Some people are born weaker
than others and consequently
die....it’s called survival of the
fittest.”

What do you think?

Methods of genetic screening
Pre-natal tests:
- These occur once the embryo is
developing inside the uterus.
- Fetal cells or tissue collected from
mother
- The main two methods are
amniocentesis and chorionic villus
sampling (CVS)
https://www.youtube.com/watch?
v=sxEf_ddmpZk
Questions
- When is it performed?
- What sample is collected?
Methods of genetic screening
Chorionic villus sampling (CVS):
- Involves taking a sample of cells/tissue from the
placenta.
- Testing happens between the 11th and 14th week of
pregnancy.
- There are two methods of doing this:
- transabdominal CVS – a needle is inserted through
the abdomen (this is the most common method used)
- •transcervical CVS – a tube or forceps are inserted
through the cervix (the neck of the womb)
What are the advantages and disadvantages
of this method?
Use page 143 to answer

EXT: Categorise the disadvantages into social

and eithical issues
Methods of genetic screening
Risks of chorionic villus sampling (CVS):
- Miscarriage (1-2% of cases)
- Infection caused by taking the sample
- Can encourage abortion if the tests
come back positive for a particular
genetic disease.
- False positives and false negatives
https://www.youtube.com/watch?
v=bZcGpjyOXt0
Questions
- When is it performed?
- What sample is collected?
Methods of genetic screening
Amniocentesis:
- Removal of amniotic fluid using needle and
syringe
- Testing occurs between the 15th and 18th
week of pregnancy.
- Epithelial and blood cells extracted from
centrifuged fluid
- Cells are cultured for 2-3 weeks and
chromosomes are examined.
What are the advantages and disadvantages
of this method?
Use page 143 to answer

EXT: Categorise the disadvantages into social

and ethical issues
Methods of genetic screening
Risks of amniocentesis:
- Miscarriage (lower chance than CVS)-
1%
- Bacterial infection
- Puncture of the placenta
- Positive results can encourage abortion
at a later stage of pregnancy than CVS
- False positives and false negatives
Preimplantation genetic diagnosis
 Pre-implantation Genetic Diagnosis
• Scientists use pre-implantation genetic diagnosis (PGD) to help people
decide which genes and characteristics to pass on to their children.
• Using the sperm and egg taken from a couple, scientists create embryos
by in vitro fertilisation (IVF).
• Scientists examine these two or three-day old embryos to find out
which genes for disease or other features are present in each embryo.
• The couple can then choose which embryo, usually the healthiest, to put
into the mother to grow into a baby.
• Scientists are able to select embryos that are free from life-
threatening or mild genetic diseases.
• They can also select male or female embryos. But what characteristics
should people be allowed to choose for their children?
• The most common reason to use PGD is to avoid having a
baby with a genetic disease.
• If a couple know that one of them has a genetic disease, or
that they have a history of genetic disease in their family,
they may not wish to pass the genes on to their child.
• They use PGD to select an embryo without the disease
genes before going ahead with the pregnancy.
• PGD is often used to avoid having a baby with a
genetic disease.
• If a woman has tests that showed her fetus had a serious
disease, then she and the baby's father might have to
decide whether to terminate the pregnancy.
• PGD avoids this unhappy situation.
Exam questions
 Difficult decisions
Your homework is to read page 144-145 and list
the issues concerned with genetic screening and
describe how genetic counselling may help
families.