genetic screening

Question 1

Name the parental test that could be used to detect Tay-Sacha disease at 11 weeks of pregnancy.

Answer 1

Chorionic Vinus Screening, CVS

Question 2

What are the different types of genetic testing ?

Answer 2

• Carrier identification
• PGD - Pre Implantation Genetic Diagnosis
• Prenatal testing

Question 3

What is a carrier?

Answer 3

an individual who carries and is capable of passing on a genetic mutation associated with a disease that is inherited.

Question 4

Genetic screening is when the _ _ _ is analysed to see if it contains …………………. that code for genetic disorders.

Answer 4

• carrier

* genes

Question 5

Who would be offered a carrier test?

Answer 5

To someone with a family history of the disease.

Or if there is a risk the disease could be passed down onto the person’s children.

Question 6

Carrier Testing allows people to make informed decisions about whether to have …… and whether to have p……………….. testing

Answer 6

• children

* prenatal testing

Question 7

PGD is carried out on _____ produced by _________.

Answer 7

• embryo

* in vitro fertilisation (IVF)

Question 8

What are the advantages of PGD?

Answer 8

• reduces the chance of having a baby with a genetic disorder

Question 9

What are the social and ethical issues of PGD?

Answer 9

• Can be used to find characteristics like eye colour and gender - leading to concerns that embryos might be selected for other characteristics e.g. designer babies
• false results could provide incorrect information.

Question 10

Prenatal Testing allows people to make informed decisions about whether to keep the baby or a…………….., or to prepare for future medical t…………………… it may need when it is born

Answer 10

• abort it

* treatment

Question 11

There are 2 types of prenatal testing, what are they?

Answer 11

• amniocentesis

* chronic virus sampling

Question 12

Amniocentesis is carried out at _ - _ weeks of pregnancy, is this earlier or later than CVS?

Answer 12

• 15 - 17 weeks

* later than CVS

Question 13

how is amniocentesis carried out?

Answer 13

A needle is inserted into the amniotic fluid to collect cells from the embryo.
This method takes tissue samples from the amniotic sac.
The DNA is extracted and tested for any diseases.

Question 14

Amniocentesis has a miscarriage rate of __% is this higher or lower than CVS?

Answer 14

• 1%

* lower

Question 15

CVS has a miscarriage rate of what?

Answer 15

1-2%

Question 16

CVS is carried out at _ - _ weeks of pregnancy, is this earlier or later than amniocentesis?

Answer 16

• 8 - 12 weeks

* earlier

Question 17

How is CVS done?

Answer 17

A sample of placental tissue (and embryo cells) is removed with either a needle or through the vagina. The sample will inevitably take cell samples from the foetus too….these are the cells we want to test.