Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Higher Human Biology > Unit 2-Antenatal And Postnatal Screening > Flashcards

Unit 2-Antenatal And Postnatal Screening Flashcards

You may prefer our related Brainscape-certified flashcards:
AP® Biology flashcards Biology 101 flashcards
1
Q

What is the difference between antenatal and postnatal?

A

Antenatal is before birth and postnatal is after birth.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Why is antenatal care carried out?

A

To monitor the health of a pregnant woman and her developing foetus and baby.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What can antenatal screening identify?

A

The risk of a disorder so that further (diagnostic) tests can be carried out if necessary, and a parental diagnosis can be given.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are screening tests used for?

A

To detect signs and symptoms associated with a condition or disorder.

Assesses risk but does not confirm.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What do screening tests require for more definite answers?

A

Diagnostic testing.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is diagnostic testing?

A

Definite tests establishing whether a person is suffering from a specific condition or disorder.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the types of antenatal screening?

A

Ultrasound, blood and urine tests.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How many ultrasound scans is a pregnant woman given during pregnancy?

A

A minimum of 2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the two routine ultrasound scans given during pregnancy?

A

A dating scan and an anomaly scan.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

At what time of pregnancy is a dating scan carried out and what does this determine?

A

8-14 weeks.

Determines the stage of pregnancy and due date

(also use marker chemicals that vary normally during pregnancy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

At what time of pregnancy are anomaly scans carried out and what for?

A

18-20 weeks.

May detect any serious physical abnormalities.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Why are routine blood and urine tests carried out throughout pregnancy?

A

Monitor the concentrations of marker chemicals which could indicate conditions such as pre-eclampsia and Down’s syndrome.

To check the blood type of baby and woman so that Rhesus disease does not occur.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

When are diagnostic tests carried out?

A

Routine screening has indicated a risk of a condition

or

for individuals already in high-risk categories

or

if there is a family history of a harmful genetic disorder.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the 2 main procedures used in diagnostic testing?

A

Amniocentesis

and

chorionic villus sampling (CVS).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the process of amniocentesis and when can it be carried out?

A

Carried out between 14-16 weeks.

Amniotic fluid is withdrawn which contains fetal cells.

Cultured to obtain sufficient cells to produce a karyotype for diagnosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the process of CVS and when can it be carried out?

A

Carried out between 9-14 weeks where a sample of placenta cells are taken from the fetal tissue.

These cells are then cultured and used for karyotyping.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the differences between CVS and amniocentesis?

A

CVS can be carried out earlier (as early as 8 weeks compared to 14-16 weeks for amniocentesis.

CVS–>placenta cells vs amniocentesis–> amniotic fluid containing fetal cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are risks of amniocentesis?

A

Miscarriage, infection, injury from the needle, inadequate results, rhesus sensitisation and club foot.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the risks of CVS?

A

Miscarriage, infection, inadequate results and rhesus sensation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is an advantage of using CVS rather than amniocentesis?

A

CVS can be carried out earlier in pregnancy than amniocentesis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What diagnostic test carries the highest risk of miscarriage - amniocentesis or CVS?

A

CVS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Why are cells from CVS and amniocentesis cultured?

A

To obtain sufficient cells to produce a karyotype to diagnose a range of conditions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What does a karyotype show?

A

The full chromosomal complement of an individual.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is one of the first parts of postnatal screening?

A

Heel prick test.

Blood tested for several rare conditions including phenylketonuria (PKU).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What is phenylketonuria?

A

An inherited metabolic condition.

Enzyme which converts the amino acid phenylalanine to the amino acid tyrosine is non-functional. Phenylalanine severely restricts the development of the brain.

26
Q

Can phenylketonuria be treated?

A

Treated following a low phenylalanine diet - a diet that avoids high protein foods such as eggs, meat and dairy.

27
Q

Why can people with PKU still produce melanin?

A

They can consume tyrosine in their diet which complete the pathway to produce melanin.

28
Q

What is the definition of haploid?

A

Only 23 chromosomes in a cell.

(Human gametes are haploid)

29
Q

What is the definition of diploid?

A

46 chromosomes (2 sets) in a human cell (somatic cell).

30
Q

What is the definition of alleles?

A

Different forms of the same gene.

31
Q

What is the definition of dominant?

A

Dominant allele expressed in the phenotype over the recessive (Hh).

32
Q

What is the definition of recessive?

A

Only expressed if both are present like (hh) not appearing with dominant.

33
Q

What is the definition of homozygous?

A

The alleles are matching pairs HH or hh.

34
Q

What is the definition of heterozygous?

A

The alleles are different/mixed Hh.

35
Q

What is the definition of a carrier?

A

You have the genotype for a certain disease but it is not displayed/expressed or you do not suffer from it.

Always heterozygous Hh

36
Q

What is the definition of genotype?

A

The genetic make up/alleles that you are actually have/are present.

37
Q

What is the definition of phenotype?

A

The observable characteristic/trait. What you can physically see.

38
Q

What is the definition of gene?

A

Part of your DNA/section of chromosome that codes for a protein.

39
Q

In humans what are the sex chromosomes?

A

The X and Y chromosomes.

40
Q

What are all the other chromosomes except from the sex chromosomes in the genotype called?

A

Autosomes.

41
Q

What can be used to analyse a particular characteristic from members of a family?

A

A pedigree chart.

42
Q

What professional would construct a pedigree chart and what would be the possible reasons for doing so?

A

A genetic counsellor would construct a pedigree chart when information and advice is required by a couple how are worried about passing on a genetic condition in their family to their children.

43
Q

What pattern do autosomal recessive show?

A
  • They are expressed relatively rarely.
  • May skip generations.
  • Males and females are affected equally.
44
Q

What genotypes will suffer in an autosomal recessive inheritance trait?

A

Sufferers will be homozygous recessive (cc).

Non sufferers will be either homozygous dominant (CC) or heterozygous (Cc)

45
Q

What pattern do autosomal dominant show?

A
  • The trait appears in every generation.
  • Each sufferer of the trait has an affected parent.
  • When a branch of the family doesn’t express the trait, the trait fails to reappear in future generations of the branch.
  • Males and females are affected equally.
46
Q

What genotypes will suffer in a dominant recessive inheritance trait?

A

All sufferers are either homozygous dominant (CC) or heterozygous (Cc).

All non-sufferers are homozygous recessive.

47
Q

What are disorders linked to autosomal recessive inheritance?

A

Cystic fibrosis.

48
Q

What are disorders linked to autosomal dominant inheritance?

A

Huntington’s disease

49
Q

What pattern do autosomal incomplete dominance show?

A
  • The fully expressed form of the disorder occurs relative rarely.
  • The partially expressed form occurs much more frequently.
  • Each sufferer of the fully expressed form has 2 parents who suffer from the partially expressed form.
  • Males and females are affected equally.
50
Q

What genotypes will suffer in an autosomal incomplete dominance inheritance trait?

A

H is used to represent the normal allele, while S represents the allele for the disorder

  • All sufferers of the fully expressed form of the disorder are homozygous for affected allele (SS)
  • All sufferers of the partially expressed form of the disorder are heterozygous for the two alleles (HS).
  • All non-sufferers are homozygous for normal allele (HH).
51
Q

If an individual has the sex chromosome XX, are they male or female?

A

Female.

52
Q

If an individual has the sex chromosome XY, are they male or female?

A

Male.

53
Q

What is a disorder linked to autosomal incomplete dominance inheritance?

A

Sickle cell.

54
Q

Which chromosome X or the Y, contains more genes?

A

The difference in size between the X chromosome and the shorter Y chromosome means some genes appear only on the X chromosome.

55
Q

What are the sex-linked genes and where are they found?

A

The sex linked genes are the genes that are present in the X chromosome but absent in the Y chromosome.

56
Q

Why is the effect of sex-linked genes more obvious in males?

A

A recessive allele on the X chromosome will show in the phenotype as there is no dominant allele present to override it.

57
Q

What pattern do sex-linked inheritance show?

A
  • Many more males are affected than females
  • None of the sons of an affected male show the trait.
  • Some of the grandsons of an affected male do show the trait.
58
Q

What genotypes will suffer in a sex-linked inheritance trait?

A
  • All sufferers of the trait are recessive (Xh Y).
  • Non-sufferers of the trait are ‘homozygous’ dominant (XH Y or XH XH) or carrier females are heterozygous (XH Xh).
59
Q

What is a disorder linked to sex-linked inheritance?

A

Haemophilia or colour blindness.

60
Q

What type of inheritance may skip generations and affects females and males equally?

A

Autosomal recessive inheritance.

61
Q

What pattern of inheritance is shown if someone can suffer a partially expressed form of a disorder?

A

Incomplete dominance inheritance.

62
Q

In sex-linked inheritance why is the disorder seen far more often in males than in females?

A

The X chromosome can contain genes the Y does not

Higher Human Biology (27 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions