Antenatal and Postnatal Screening

Question 1

What does antenatal screening do?

Answer 1

Identifies risk of a disorder so that further tests and a prenatal diagnosis can be offered

Question 2

What are the two types of ultra sound?

Answer 2

Dating scan and anomaly scan

Question 3

What is the function of a dating scan?

Answer 3

Determines due date. Used in conjunction with marker chemical tests which may vary during pregnancy

Question 4

When does dating scan usually take place?

Answer 4

8-14 weeks

Question 5

What is the function of an anomaly scan?

Answer 5

May detect serious physical abnormalities in the foetus

Question 6

When does the anomaly scan take place?

Answer 6

18-20 weeks

Question 7

What do blood and urine tests do?

Answer 7

Used to check levels of marker chemicals in the mother’s blood or urine. These detect pregnancy and indicate the possibility of genetic and metabolic problems.

Question 8

What is a biochemical test?

Answer 8

To test if the foetus has a disorder

Question 9

What is a diagnostic test?

Answer 9

Screening test to establish whether a person suffers from a certain condition

Question 10

When are diagnostic tests given?

Answer 10

If women are at a high risk of a disorder. This is done using karyotypes

Question 11

What is a amniocentesis?

Answer 11

Involves taking a sample of the atomhotic fluid around the foetus

Question 12

How is the amniocentesis done?

Answer 12

Done by using a fine needle inserted through the stomach and uterus wall. Samples are cultured then karyotyped to identify chromosomal disorder

Question 13

What’s the disadvantage with amniocentesis?

Answer 13

It is done later in the pregnancy than cvs

Question 14

What is chorionic villus sampling?

Answer 14

Involves taking a small sample of placental cells. This is done through the vagina using a very fine tube. Samples are cultured and karyotyped to identify chromosomal disorders.

Question 15

When can chorionic villus sampling be carried out?

Answer 15

Early as 8 weeks

Question 16

What’s the disadvantage with cvs?

Answer 16

Carries a higher risk of miscarriage than amniocentesis

Question 17

What is karyotype?

Answer 17

Individuals chromosomes arranged as homologous pairs. To find the abnormalities in chromosomes.

Question 18

What are the two different types of genetic disorders?

Answer 18

sex linked or auto small

Question 19

What do sex chromosomes look like in a scale?

Answer 19

Pair 23, x or y

Question 20

What does dominant mean?

Answer 20

Powerful gene

Question 21

What does ressive mean?

Answer 21

Weaker gene

Question 22

What does homozygous mean?

Answer 22

Both letters are the same

Question 23

What is autosomal recessive inheritance?

Answer 23

Rare disease that may skip generations. Makes and females are affected in equal ways

Question 24

What is a autosomal dominant inheritance?

Answer 24

The disease trait is in every generation. Each suffer has an effected parent. If branches of family tree don’t show the trait, trait won’t appear in future. Male and female equally effected

Question 25

What is Autosomal incomplete dominant inheritance ?

Answer 25

It’s a disease where full expression is rare. Full suffer must have parents with partial. Males and females equally effected

Question 26

What is sex linked recessive inheritance?

Answer 26

It’s a disease where males are more affected than females. None of the sons will show the trait, it’s mostly grandsons

Question 27

What is the Females genotype?

Answer 27

X^h X^h

Question 28

What is the male genotype?

Answer 28

X^h Y^h

Question 29

What is a pku test?

Answer 29

A heel prick test to check for excess phenylaline in first days of life

Question 30

How to cure the excess phenylalanine?

Answer 30

Go on a restricted diet

Question 31

Why do children get the PKU test?

Answer 31

Children without don’t have the enzyme to break down phenylaline and it builds up = health problems