U2KA4 Flashcards

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
What sex chromosomes affected would be sex-linked recessive?
X or Y chromosome, Females have 2 X chromosomes, males have an X and Y chromosome
26
What are the features of sex-linked recessive conditions?
-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
What is meant by incomplete dominance?
some genetic disease alleles are not dominant or recessive. They have the ability to be partially expressed in heterozygous people
28
What are features of incomplete dominance?
- 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
When does postnatal screening occur?
after the birth of the baby
30
what is postnatal screening used for?
to screen infants for common genetic disorders that may affect their feeding, growth, or brain development.
31
What does PKU stand for?
phenylketonuria
32
Why is PKU screened for all infants?
Because build up of phenylalanine causes brain damage