👶 Embryo Screening and Prenatal Testing

Question 1

Why are regular medical checks important during pregnancy?

Answer 1

1. Maintain a healthy pregnancy
2. Monitoring health of foetus
3. Range of tech available for foetus if there is concern

Question 2

What is an ultrasound?

Answer 2

A technique in which inaudible, high-frequency sound waves are used to produce an image, especially of the foetus during pregnancy

Question 3

What happens during an ultrasound?

Answer 3

A probe placed on pregnant woman abdomen, and sound waves are reflected by foetal tissues to obtain visual ‘echo’ of what is inside uterus.

Question 4

What does the doctor do with the images from the uterus?

Answer 4

The doctor feeds these reflected sounds, or echoes, into a computer to produce a screen image of foetus for study.

Question 5

What info can be gained from ultrasounds?

Answer 5

1. Confirming/estimating stage of pregnancy
2. Determining number of foetuses
3. Identifying abnormalities of cervix/uterus
4. Monitoring foetal growth
5. Determining foetus’ gender

Question 6

What are the benefits and limitations of foetal ultrasounds?

Answer 6

1. It’s a safe technique for gaining valuable info
2. Cannot diagnose all abnormalities.
3. If abnormality detected, further tests may be required for more specific information.

Question 7

How are foetal cells obtained for analysis and why?

Answer 7

1. Using either amniocentesis or chorionic villus sampling
2. Used to examine foetus’s chromosomes to detect defective, missing or additional chromosomes.

Question 8

What is amniocentesis?

Answer 8

A technique in which a small amount of amniotic fluid surrounding a foetus is removed and examined for indications of possible defects in foetus

Question 9

When is amniocentesis carried out?

Answer 9

Between 16th and 20th weeks of pregnancy, by which time foetus is floating in ~ 130 mL of amniotic fluid.

Question 10

What does amniocentesis involve?

Answer 10

1. Using ultrasound to guide a needle through abdominal wall into amniotic cavity.
2. ~ 10–20 mL of fluid is removed.

Question 11

What is done with the living cells from the foetus?

Answer 11

1. Living cells from foetus are floating in fluid.
2. Can be examined for biochemical defects, abnormalities in number of chromosomes or chromosome structure.

Question 12

What risks are involved in amniocentesis?

Answer 12

1. Involves a small risk of infection, miscarriage or damage to the baby.
2. Only performed on women thought to be at higher risk of delivering child with birth defect.

Question 13

What disorders can be detected by amniocentesis?

Answer 13

1. Down Syndrome and cystic fibrosis.
2. Neural tube defects such as Spina Bifida
3. Range of genetic disorders, including sickle cell disease.

Question 14

What is Chorionic Villus Sampling (CVS)?

Answer 14

A technique in which foetal cells are removed from chorion and examined for indications of possible defects in foetus

Question 15

When does CVS testing take place?

Answer 15

Testing takes place at 9–19 weeks of pregnancy

Question 16

What are the advantages of CVS?

Answer 16

Foetal tissue gained through CVS can be tested more quickly than specimen of amniotic fluid, reducing time between testing procedure and examination of results.

Question 17

What are the disadvantages of CVS?

Answer 17

The risk of miscarriage following procedure is 2%

Question 18

What disorders can be detected using CVS?

Answer 18

Detects genetic disorders and biochemical abnormalities, but it cannot diagnose Spina Bifida

Question 19

What are blood tests?

Answer 19

A non-invasive prenatal screening test of mother’s blood that is possible due to some of the baby’s DNA passing into mother’s blood.

Question 20

What do blood tests detect?

Answer 20

1. Able to identify if there’s an increased chance of baby having a certain disorder.
2. Does not confirm whether baby definitely has the disorder

Question 21

What do blood tests screen for?

Answer 21

1. Down syndrome (also called trisomy 21)
2. Edwards syndrome (trisomy 18)
3. Patau syndrome (trisomy 13)
4. Turner syndrome

Question 22

When are blood tests available?

Answer 22

1. From ~ 10 weeks of gestation
2. If they show increased chance of abnormality, an amniocentesis/CVS recommended to confirm diagnosis..

Question 23

What is foetal monitoring?

Answer 23

1. Regular recording of baby’s heart rate in order to detect indicators of stress.
2. Usually takes place during labour and birth using ultrasound and electrocardiography

Question 24

What is an electrocardiography?

Answer 24

A procedure for recording electrical changes in heart.

Question 25

What happens during an electrocardiography?

Answer 25

1. An electrocardiogram (ECG) shows series of waves that relate to electrical impulses that occur during each heart beat. 2. Results printed on paper/displayed on monitor.

Question 26

What are the benefits of a foetal heart analysis?

Answer 26

1. Enables medical staff to check whether there is any risk of oxygen deficiency occurring. 2. Oxygen deficiency during birth may result in brain damage, or even a stillbirth.