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HUMAN BIO > 2.4 > Flashcards

2.4 Flashcards

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1
Q

Ante-natal screening is

A

Antenatal screening monitors health of mother and foetus and identifies risk of a disorder and may allow for a prenatal diagnosis to be given .

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2
Q

Types of antenatal screening

A

Ultra sound scanning
Blood/Urine tests

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3
Q

Types of ultra sound scanning

A

Dating scan
Anomaly scan

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4
Q

When are dating scans used and what are they for

A

8-14 weeks into pregnancy
Dates pregnancy and due date, used with blood and urine tests

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5
Q

When are anomaly scans used and what for

A

18-20 weeks into pregnancy
Checks for physical abnormalities

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6
Q

Explain blood and urine tests

A

There are some chemicals that can show up in a mothers blood and urine that may indicate a problem with pregnancy/foetus. These are marker chemicals.

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7
Q

What are marker chemicals

A

Chemicals that show up in mothers blood/urine indicating problem with foetus or pregnancy

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8
Q

What happens if marker chemical found in urine/blood

A

Diagnostic testing carried out

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9
Q

What is diagnostic testing used for

A

Diagnostic testing is used to check for genetic abnormalities such as Down’s syndrome and edwards syndrome.

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10
Q

Risk of diagnostic testing

A

Miscarriage

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11
Q

Types of diagnostic testing

A

Amniocentesis
CVS

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12
Q

Diagnostic testing criteria is

A

Marker chemicals and ultra sounding screening indicate problem

High risk individuals (over 35, obese)

Family history / parents carriers of genetic condition

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13
Q

Explain how amniocentesis carried out

A

Cells from foetus are collected from amniotic fluid

Cells grown in lab

Karyotype produced to look for chromosome structure mutations

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14
Q

Explain how CVS is carried out

A

Foetal cells are collected from placenta

Karyotype instantly done from large sample of cells

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15
Q

What is a Karyotype

A

A Karyotype is a picture of a cells chromosomes. It is possible to see chromosome abnormalities

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16
Q

What stage of pregnancy can amniocentesis be carried out

A

14-16 weeks

17
Q

What stage of pregnancy can CVS be carried out

A

8-10 weeks

18
Q

How long does it take for amniocentesis results

A

3 weeks

19
Q

How long does it take for CVS results

A

24 hours

20
Q

Location cells collected amniocentesis

A

Amniotic fluid

21
Q

Location cells collected CVS

A

Placenta

22
Q

Is risk of miscarriage higher in CVS or amniocentesis

A

CVS

23
Q

What is genetic counselling

A

Genetic counselling examines family trees and phenotypes to determine genotypes of all family members. This helps inform prospective parents the risk of passing on genetic diseases

24
Q

What are all patterns of inheritance

A

Autosomal dominant
Autosomal recessive
Sex-linked
Incomplete dominance

25
Q

Define autosomal

A

An autosomal gene is present on chromosome numbers 1-22. It is not present on the sex chromsomes X or Y.

26
Q

Features of autosomal dominant

A

Affected person in every generation

Affects males just as much as females

Sufferers can be homozygous dominant or heterozygous

Healthy people are homozygous recessive

27
Q

Example of autosomal dominant disease

A

Huntingtons disease

28
Q

Features of autosomal recessive

A

Can skip a generation

Equal numbers of males and females affected

Sufferers are homozygous recessive

Carriers are heterozygous

Unaffected are homozygous dominant

29
Q

Example of autosomal recessive disease

A

Cystic fibrosis

30
Q

Define sex linked

A

A sex linked gene is present only on the X chromsome. Females have 2 x chromsomes, males have 1. Mutated genes tend to be recessive.

31
Q

Features of sex linked

A

More males affected than females

Affected fathers cannot pass their conditions on to their sons

Genotypes written like XRxr (female) or XrY (male)

It can skip a generation

Unaffected males will have unaffected or carrier daughters (depending on mother)

32
Q

Example of sex linked disease

A

Haemophilia

33
Q

Define Incomplete dominance

A

Some alleles are not fully dominant or recessive. E.g. the genes that control flower colour in snapdragon plants, an allele for red (RR) and allele for white (WW) = RW (makes pink) this can be the same for some genetic diseases

34
Q

Example of incomplete dominance disease

A

Sickle cell anemia

35
Q

Features of incomplete dominance

A

Carriers (heterozygous) are partially affected

More carriers than sufferers

Sufferers homozygous for mutated gene

Unaffected homozygous for the normal gene

Males and females equally affected

36
Q

What is postnatal screening

A

Some conditions need to be tested for immediately after birth, this is to ensure infant is not fed something or given medication that may be harmful to them.

37
Q

What is PKU

A

One condition that is postnatal screened for is called PKU. It is a metabolic disorder where the body cannot break down phenylalanine, an amino acid. It is found in all proteins. If baby ingests too much protein eg I’m breast milk it can cause brain damage

38
Q

What kind of condition is PKU and how is it inherited

A

PKU is an autosomal recessive condition

Both parents must be carriers to pass the condition on

It cannot be predicted by antenatal screening

HUMAN BIO (24 decks)

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