Unit 2 - KA4 (Antenatal and Postnatal Screening)

Question 1

What is antenatal screening?

Answer 1

A variety of techniques which can be used to monitor the health of the mother and the developing foetus

Question 2

What does antenatal screening identify?

Answer 2

Identifies the risk of a condition or disorder so that further diagnostic test can be carried out

Question 3

What is antenatal care?

Answer 3

Mother is closely monitored during pregnancy

Question 4

What is the first ultrasound given?

Answer 4

Dating stage - 8-14 weeks - foetal measurements taken

Question 5

What is the second ultrasound given?

Answer 5

Detecting foetal abnormalities - 18-20 weeks

Question 6

What is a screening test?

Answer 6

Detects signs and symptoms associated with a disorder, degree of risk is assessed

Question 7

What is a diagnostic test?

Answer 7

A definitive test which establishes without doubt whether the baby is suffering from a specific disorder

Question 8

What is a diagnostic biochemical test?

Answer 8

Routine blood and urine tests which are carried out throughout pregnanacy

Question 9

What are biochemical markers?

Answer 9

A series of tests that check for different medical markers

Question 10

What are the two main types of diagnostic testing?

Answer 10

• Amniocentesis and Chronic villus sampling

Question 11

What is amniocentesis?

Answer 11

Small volume of amniotic fluid is extracted and it contains foetal cells - cultured to produce a karotype. Risk of a miscarriage

Question 12

What is chorionic villus sampling?

Answer 12

Involves the taking of a small samaple of placental cells - cells are cultured and used for karotyping

Question 13

What is genetic screening?

Answer 13

The study of a persons DNA in order to identify genetic differences

Question 14

What is genetic counselling?

Answer 14

Advice given to prospective parents concerning the risks of genetic disorders in a future child

Question 15

What are pedigree charts used for?

Answer 15

Used to analyse patterns of inheritance

Question 16

What is autosomal recessive inheritance?

Answer 16

A trait expressed relatively rarely, all suffers are homozygous recessive.

Question 17

What is autosomal dominat inhertitance?

Answer 17

Trait appears in every generation, every sufferer has an effected parent, all non suffers are homozygous recessive

Question 18

What is autosomal incomplete dominance?

Answer 18

Fully expressed form happens rarely, partially expressed form happens more often, non suffers are homozygous dominant.

Question 19

What is sex-linkage?

Answer 19

Genes carried on the same chromosome are said to be sex linked

Question 20

What is Sex linked recessive?

Answer 20

Many more males affected by females (if any). all sufferers are homozygous recessive Xh Y or Xh Xh

Question 21

What is postnatal screening?

Answer 21

The screening of newborns shortly after birth for a list of conditions that are treatable.

Question 22

What is PKU?

Answer 22

A rare gentic disorder that is present from birth The body is unable to breakdown an amino acid called phenylalaiane which then builds up in the blood and brain if left untreated.

Question 23

What is the treatment for PKU?

Answer 23

A protein restricted diet which is low in phenylalaianine and the taking of daily supplements

Question 24

What is the diagnostic test for PKU?

Answer 24

A blood test done a day or two after birth. Carried out after baby has ingested some protein