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Higher Human Biology Unit 2 🌀 > 2.3 Ante- And Postnatal Screening > Flashcards

2.3 Ante- And Postnatal Screening Flashcards

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1
Q

What is the purpose of antenatal screening

A

To identify the risk of a disorder so that further tests and a prenatal diagnosis may be offered.

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2
Q

What are the two types of antenatal screening test

A

Ultrasound imagining and biochemical tests

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3
Q

What happens in ultrasound imaging

A

An ultrasound scanner is help up against a pregnant woman’s abdomen and picks up high frequency sounds and converts them to a ultrasound image

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4
Q

What are the two types of ultra sound scans

A

Dating scan and anomaly scan

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5
Q

When can a dating scan be offered

A

8-14 weeks

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6
Q

When can an anomaly scan be offered

A

18 - 21 weeks

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7
Q

What does a dating scan do

A

Determines the stage of the pregnancy and calculates the date when the baby is due

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8
Q

What abnormalities can be detected in a dating scan

A

Neural tube defects such as spina bifida

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9
Q

How can Down’s syndrome be screened for in a dating scan

A

Combined with a blood test and measuring of the the fluid at the back of the baby’s neck

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10
Q

What does an anomaly scan allow

A

Checks to be made for the presence of any physical abnormalities e.g. a clefts lip

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11
Q

What can changes be detected by

A

Biochemical tests

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12
Q

How are some medical conditions identified

A

By the presence of certain marker chemicals in the blood and urine.

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13
Q

What do high levels of HCG show

A

That a foetus has Down’s syndrome

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14
Q

To monitor the health of the mother and the foetus what tests should be taken

A

Alpha fetoprotein, renal/liver function, thyroid function

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15
Q

Why would a false positive result

A

If a marker chemical was measured at the wrong time - could diagnose a child with condition it doesn’t have

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16
Q

Why would a false negative result

A

Suggests a foetus doesn’t have a condition when it does - so time chosen for biochemical tests has to be closely synchronised with data from ultrasound scans

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17
Q

What is a diagnostic test

A

A definitive test which shows whether a developing foetus actually has the condition.

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18
Q

Why would diagnostic tests be offered

A

Family history of genetic disorders, of the woman belongs to a high risk category or if there is evidence of a potential problem

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19
Q

What is a karyotype

A

A visual representation of an individuals chromosome complement displaying number of chromosomes, arrangement, size and structure for analysis.

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20
Q

What are the two types of diagnostic test

A

Amniocentesis and chorionic villus sampling

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21
Q

What is Down’s syndrome caused by

A

An extra chromosome 21 in EACH CELL

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22
Q

What does amniocentesis do

A

Access whether an unborn baby could develop or is developing a serious genetic condition

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23
Q

When is amniocentesis carried out

A

Weeks 14 - 16

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24
Q

Describe the process of amniocentesis

A

The removing of amniotic fluid which surround the foetus. This fluid has foetal cells then collected from it, cultured and then examined under a microscope

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25
Q

What are advantages of amniocentesis

A

Prenatal diagnosis possible and defects neural tube defects

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26
Q

What are disadvantages of amniocentesis

A

Gives results later in pregnancy and small risk of miscarriage

27
Q

What is chorionic villus sampling

A

A second diagnostic test offered to check for genetic disorders

28
Q

Describe the process of chorionic villus sampling

A

Removal of a small sample of cells from an area of the placenta called chorionic villi. Carried out under guidance of ultrasound scanner so nothing enters amniotic fluid or touches the baby. The sample of cells are then cultured, stained and a karyotype is produced.

29
Q

What are advantages of chorionic villus sampling

A

Gives results earlier in pregnancy and prenatal diagnosis possible

30
Q

What are disadvantages of chorionic villus sampling

A

Higher risk of miscarriage and doesn’t detect neural tube defects

31
Q

When does chorionic villus sampling happen

A

11 - 14 weeks

32
Q

What are the four types of blood groups

A

A, B, AB, and O

33
Q

What does your blood contain

A

Antigens and antibodies

34
Q

What antigens do each of the blood groups have

A

A - a antigens
B - b antigens
AB - a & b antigens
O - no a or b antigens

35
Q

What antibodies do each of the blood groups have

A

A- b antibodies
B - a antibodies
AB - no a or b antibodies
O - a & b antibodies

36
Q

What blood group is the universal donor

A

O

37
Q

What blood group is the universal recipient

A

AB

38
Q

In what situation of birth would there be a serious problem with blood

A

If a rhesus negative mother has a rhesus positive child and at birth the child’s blood comes into contact with the mothers immune system.

39
Q

What is the next problem

A

If the rhesus negative mother has a second rhesus positive child

40
Q

What is postnatal tests

A

Screening tests offered to new born babies

41
Q

When do postnatal tests occur

A

First 6 - 8 weeks

42
Q

What are some postnatal screening tests

A

Physical examination, hearing screening test, blood spot (heel prick) test

43
Q

What are the benefits of postnatal screening

A

Early treatment can improve their health and prevent severe disability or death

44
Q

What is an example of a metabolic disorder

A

PKU

45
Q

What is PKU

A

An inborn error of metabolism

46
Q

What does having PKU mean

A

The body cannot turn food into energy

47
Q

What is PKU caused by

A

A genetic mutation in the PAH gene (because enzymes are proteins)

48
Q

What happens as a result of PKU in babies

A

They can’t break down the amino acid phenylalanine which builds up in the blood and brain

49
Q

What is the treatment for PKU

A

A restricted diet containing minimum quantity of phenylalanine

50
Q

What is a consequence of untreated PKU

A

Mental deficiency

51
Q

What does genetic counselling involve

A

Gathering information about the occurrence of genetic conditions from an individuals family members

52
Q

What does genetic counselling provide

A

Support, information and advice

53
Q

What are all the chromosomes called (excluding sex chromosomes)

A

Autosomes

54
Q

Why may genetic counselling be carried out

A

Diagnosing a person with a genetic condition, working out the risk of someone developing a condition or determining whether someone is a carrier of a genetic condition

55
Q

Why are family tress only expected to work out the RISK of inheriting a genetic condition

A

Fertilisation is a random process

56
Q

What are the patterns of inheritance

A

Autosomal recessive, autosomal dominant, incomplete dominance and sex linked recessive

57
Q

What is an example of autosomal recessive inheritance

A

Cystic fibrosis

58
Q

What are the features of a autosomal recessive pedigree chart

A

Trait is expressed very rarely, it skips generations, expressed in some offspring of marriage between cousins and males and females equally affected

59
Q

What is an example of autosomal dominant inheritance

A

Huntington’s chorea

60
Q

What are the features of an autosomal dominant inheritance

A

Trait appears in every generation, each sufferer has an affected parent, doesn’t skip generations, males and females affected equally

61
Q

What is an example of autosomal incomplete dominance

A

Sickle cell trait

62
Q

What are features of autosomal incomplete inheritance

A

The fully expressed form occurs rarely, partly expressed form occurs frequently, males and females affected equally

63
Q

What is an example of sex linked recessive inheritance

A

Male pattern baldness

Higher Human Biology Unit 2 🌀 (3 decks)

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