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Unit 2 Biology > Ante and postnatal screening > Flashcards

Ante and postnatal screening Flashcards

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1
Q

What does antenatal and postnatal screening involve?

A

Testing for diseases or conditions in a fetus or embryo before it is born

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2
Q

What does antenatal screening identify?

A

The risk of a disorder so that further tests and a prenatal diagnosis can be offered

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3
Q

What do common antenatal testing procedures include?

A

ultrasound scanning, amniocentesis, chorionic villus sampling (CVS) and rhesus antibody testing

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4
Q

What are three uses of an ultrasound used to produce?

A

An ultrasound image on a computer screen ,gestational dating scan and anomaly scan

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5
Q

What is a gestational dating scan mean?

A

which is used to determine the stage of pregnancy and date that the baby is due

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6
Q

What is an anomaly scan?

A

Used to detect the presence of serious physical problems in the fetus

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7
Q

What is an ultrasound?

A

image on a computer screen

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8
Q

Why are biochemical tests carried out?

A

To detect marker chemicals that are produced during normal physiological changes that take place during pregnancy

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9
Q

What is a screening procedure?

A

Tests such as ultrasound imaging that indicates the possible presence of a disorder

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10
Q

What can diagnostic tests like amniocentesis and CVS confirm?

A

The presence of conditions such as down syndrome

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11
Q

What can cells from amniocentesis and CVS do?

A

Be cultured to obtain sufficient cells to produce karyotype

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12
Q

What is karyotype?

A

An image of an individual’s chromosomes arranged in homologous pairs

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13
Q

Why is a karyotype used?

A

To identify anomalies in the number or structure of chromosomes

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14
Q

What are problems with diagnostic test like amniocentesis and CVS?

A

THey are invasive and carry a small risk of inducing miscarriage

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15
Q

When can CVS be carried out?

A

Before amniocentesis but has a higher risk of inducing miscarriage

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16
Q

Why is Rhesus antibody carried out earlier in a pregnancy?

A

To determine the rhesus status of the mother, to ensure that she shows no immune responses to her fetus

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17
Q

what complications can event of a second pregnancy

A

If a mother is rhesus negative and the fetus is rhesus positive

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18
Q

What is given to negative rhesus mothers after sensitising events such as the birth of a baby?

A

Anti rhesus antibodies

19
Q

What does postnatal screening involve?

A

Health checks that are carried out after the birth of the baby. These are aimed at detecting certain conditions or abnormalities

20
Q

What is postnatal testing used to detect?

A

Metabolic disorders such as phenylketonuria (PKU)

21
Q

What is PKU?

A

An inborn error of metabolism

22
Q

How is PKU caused?

A

By an autosomal recessive genetic disorder

23
Q

What can individuals with PKU cannot do?

A

Metabolise excess phenylalanine

24
Q

What can happen if PKU is not detected soon after birth?

A

The baby’s mental development can be affected

25
Q

What do people with PKU have to do?

A

Be placed on a restricted diet that lacks the amino acid phenylalanine

26
Q

What are pedigree charts compiled and used to analyse?

A

Patterns of inheritance in genetic screening and counselling

27
Q

What are pedigree charts constructed to do?

A

Provide information and advice in situations where there is the possibility of passing on a genetic disorder to potential offspring

28
Q

What are pedigree charts compiled to do?

A

To analyse patterns of inheritance in genetic screening and counselling

29
Q

In what situation are pedigree charts used to provide information and advice?

A

Where there is a possibility of passing on a genetic disorder to potential offspring

30
Q

What can pedigree charts be used to analyse?

A

Patterns of inheritance involving autosomal recessive, autosomal dominant, incomplete dominance and sex linked recessive single gene disorders

31
Q

What are alleles?

A

Forms of the same genes

32
Q

What are homozygous alleles?

A

Individuals have two copies of the same allele

33
Q

What are heterozygous alleles?

A

Individuales have copies of two different alleles

34
Q

Describe cystic fibrosis an autosomal recessive disorder

A

Is expressed relatively rarely in the offspring

It affects males and females equally and may skip generations

35
Q

When does an autosomal disorder such as Huntington’s disease show up?

A

Every generation and affects males and females equally

36
Q

What does autosomal incomplete dominance mean?

A

The fully expressed form of the condition is rare, the partly expressed form is more common. Males and females are affected equally

37
Q

Who is more affected in sex-linked recessive disorders?

A

Males are affected more than females. Male offspring receive the condition from their mother; fathers cannot pass the condition on to their sons and female offspring can only be affected if the father has the condition and the mother is at least a carrier

38
Q

What three things involve the production of a karyotype

A

Anomaly scan, amniocentesis and chorionic villus sampling

39
Q

When does a dating scan takes place?

A

Between 8 and 14 days

40
Q

Why are blood and urine tests carried throughout the pregnancy

A

To monitor the concentration of marker chemicals

41
Q

Why to cells from samples are used to be cultured to obtain sufficient cells

A

to produce a karyotype to diagnose a range of conditions

42
Q

What decision has to be made when deciding to proceed with theses tests?

A

The element of risk will be assessed will the decisions the individuals concerned are likely to make if a test is positive

43
Q

What are the patterns of inheritance

A

autosomal recessive
autosomal dominant
incomplete dominance
sex-linked recessive single gene disorder

44
Q

What is the diagnostic testing for phenylketonuria

A

In PKU a substitution mutation means that the enzyme which converts phenylalanine to tyrosine is non-functional

Unit 2 Biology (8 decks)

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