Unit 2 - Postnatal Screening Flashcards

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1
Q

What does antenatal screening identify?

A

The risk of a fetus inheriting a genetic disorder.

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2
Q

When are ultrasounds aloud to be carried out?

A

Between 8-14 weeks

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3
Q

What do ultrasounds/ dating scans show?

A

How far along the pregnancy is and the development of the baby

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4
Q

Biochemical test on a woman include

A

Checking HCG levels

Blood pressure

Blood type

Urine tests

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5
Q

A false positive result means

A

The test shows the fetus has a condition when it actually doesn’t

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6
Q

A false negative result means

A

It shows the fetus doesn’t have the condition but actually does

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7
Q

What Is The difference between a screening test and a diagnostic test

A

A screening test detects signs and symptoms of a condition

A diagnostic test shows a definite answer to whether or not a person has a specific condition

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8
Q

What is a person karotype?

A

A visual display of their complete chromosome complement

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9
Q

What Is Amniocentesis and when can it be carried out?

A

A diagnostic test to allow a Karyotype to be prepared.

This can be carried out about 14 to 16 weeks.

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10
Q

What is CVS and when can it be carried out?

A

Another diagnostic test taken to allow a persons kayrotype to be prepared.
This can be carried out at 8 weeks.

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11
Q

Amniocentesis allows for what to be detected?

A

Chromosomal abnormalities

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12
Q

What are the dangers of CVS

A

This sampling causes a higher chance of miscarriage

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13
Q

What are autosomes?

A

Chromosomes that aren’t involved in determine the sex of the individual

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14
Q

What are the four main patterns of inheritance?

A

Autosomal recessive
Autosomal dominant
Autosomal incomplete dominance
Sex linked recessive

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15
Q

How can a geneticist recognise an autosomal recessive trait?

A

The trait is shown rarely

The trait could skip a generation

It is equally spread between males and females

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16
Q

How can a geneticist recognise an autosomal dominant trait ?

A

The trait appears in every generation

Each sufferer has an affected parent

The trait is spread equally between males and females

17
Q

How can a pattern of inheritance be shown?

A

By collecting information about a particular characteristic from family members and then creating a pedigree chart

18
Q

How a geneticist can recognise autosomal incomplete dominance

A

The full disorder occurs rarely

Part of the disorder occurs more often

Each sufferer fully expressed to the disorder has both parents with the partially expressed form

Males and females are affected equally

19
Q

How can a geneticist recognise a sex linked disorder

A

Males are more affected than females

None of the sons are affected by the affected father