U2KA4 Flashcards

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1
Q

Why is monitoring the health of the mother and baby crucial?

A

to avoid complications during birth and increase the chances of survival for both the mother and offspring.

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2
Q

What is antenatal screening used for? Can anyone use it?

A

its available for all pregnant women to try and identify the risk of a disorder so that further tests and a prenatal diagnosis can be offered.

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3
Q

Pregnant women are given _____ ultrasound scans

A

2

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4
Q

What are ultrasound scans used for?

A

to monitor the basic physical structure and heartbeat of the foetus.

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5
Q

When does a dating scan occur and what does it determine?

A

8-14 weeks, determines the stage of pregnancy and the due date of the foetus.

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6
Q

When does an anomaly scan occur and what does it determine?

A

18-20 weeks, determines if the foetus has any serious physical abnormalities.

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7
Q

What are the different screening types during pregnancy?

A

antenatal screening, ulstrasounds, dating scans. anomaly scans and postnatal screenings

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8
Q

What are blood and urine tests used for during pregnancy?

A

to monitor the concentrations of marker chemicals

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9
Q

Why are blood and urine tests used to monitor marker chemicals?

A

because they may indicate a problem with the foetus

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10
Q

What happens if an issue arises as a result from the blood and urine test, ultrasound, or medical history of the mother during pregnancy?

A

diagnostic testing may be carried out

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11
Q

What is diagnostic testing used for?

A

to confirm whether or not there actually is a problem and diagnose the foetus if there is an issue.

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12
Q

What’s the risk of diagnosting testing?

A

miscarriage.

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13
Q

What are the 2 types of diagnosting testings?

A

amniocentesis and chorionic villus sampling (CVS)

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14
Q

What is amniocentesis?

A

its used to test the foetus’ genes for a genetic problem

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15
Q

How does amniocentesis work?

A

needle inserted into uterus —> take a sample of amniotic fluid from the abdomen wall (it has foetus’ skin cells) —-> grow a larger samples in lab —-> karyotype

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16
Q

What does CVS stand for in diagnosting testing?

A

chorionic villus sampling

17
Q

What is CVS?

A

used to test the foetus’ genes for a genetic problem

18
Q

How does CVS work?

A

catheter is inserted into the cervix and uterus —> sample of foetus’ cells from the placenta is taken —> karyotype

19
Q

Which diagnosting testing type has a lower risk of miscarriage?

A

amniocentesis

20
Q

What is a karyotype?

A

a picture of the entire chromosome complement in a person. Show structure mutations as well as extra or missing chromosomes

21
Q

What are the different types of genetic inheritance?

A

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

22
Q

What sex chromosomes affected would be autosomal?

A

genetic diseases that is not found on the X or Y (sex) chromosomes

23
Q

What features do autosomal recessive conditions have?

A
  • Affects similar numbers of males and females
  • The condition can skip a generation
  • Carriers are heterozygous, but healthy
  • Sufferers are homozygous recessive
24
Q

What features do autosomal dominant conditions have?

A
  • Affects similar numbers of males and females
  • The condition is in every generation
  • Sufferes are heterozygous or homozygous
  • Healthy people are homozygous recessive
25
Q

What sex chromosomes affected would be sex-linked recessive?

A

X or Y chromosome, Females have 2 X chromosomes, males have an X and Y chromosome

26
Q

What are the features of sex-linked recessive conditions?

A

-More males are affected than females
- The condition can skip a generation
- Affected females are homozygous recessive
- Carrier females are heterozygous but healthy
- Affected males have one copy of the disorder gene
- Unaffected males have one copy of the healthy gene
- Genotypes are written XR/Xr (females) or XRY (males)

27
Q

What is meant by incomplete dominance?

A

some genetic disease alleles are not dominant or recessive. They have the ability to be partially expressed in heterozygous people

28
Q

What are features of incomplete dominance?

A
  • Affects similar numbers of males and females
  • Partially or fully affected in every generation
  • Homozygous affected people have the full diseases
  • Heterozygous carriers are partially affected by the disease
  • Genotypes are written using different capital letters
29
Q

When does postnatal screening occur?

A

after the birth of the baby

30
Q

what is postnatal screening used for?

A

to screen infants for common genetic disorders that may affect their feeding, growth, or brain development.

31
Q

What does PKU stand for?

A

phenylketonuria

32
Q

Why is PKU screened for all infants?

A

Because build up of phenylalanine causes brain damage