2.4 Antenatal And Postnatal Flashcards

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1
Q

What’s antenatal screening and what’s it for?

A

Happens during pregnancy and can identify risk of disorder (ultrasound, blood and urine and diagnostic)

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2
Q

What are the two ultrasounds you may get, when and what for?

A

Dating (8-14 weeks) for determining due date and anomaly (18-20 weeks) which checks abnormalities

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3
Q

What is a biochemical test?

A

Routine blood and urine tests to monitor marker chemicals (HCG)

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4
Q

What are two types of foetus diagnostic testing and when do they occur and what they for?

A

Amniocentesis (weeks 14-16) they take amino fluid and they can check for Down syndrome

They can also use chronic villus sampling (8weeks earlier) where they extract placenta fluid but has higher misscarge rate

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5
Q

In chronic villus sampling, what do they extract?

A

Placenta fluid

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6
Q

What is more risky, amniocentesis or chronic villus sampling?

A

Chronic villus sampling

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7
Q

Who could tell you if your worried a future baby may inherit your of past family conditions?

A

Genetic counsler

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8
Q

How are sex chromosome represented?

A

X and Y
Male- XY
Female-XX

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9
Q

What are the 4 types of inheritance?

A

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

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10
Q

What’s homozygous recessive, homozygous dominant and heterozygous?

A

Homozygous recessive-rr
Homozygous dominant-RR
Heterozygous-Rr

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11
Q

Tell me about autosomal recessive and a example?

A

Trait is rare and can skip generation. Male and female equally affected. Sufferer are HR (rr), non sufferer are HD (RR) or H (Rr) and example is cystic fibrosis

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12
Q

Tell me about autosomal dominant and example?

A

Appears in every generation. When branch family don’t got it, it goes away. Male and female equally affected. Non sufferers are HR (rr) and sufferers either H (Rr) or HD (RR) and example is huntingtons

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13
Q

Tell me about Autosomal incomplete dominance and an example?

A

Fully expressed form is rare. Male and female affected equally. Non sufferers are homozygous for one incomplete allate (HH). Sufferers of fully expressed form are homozygous for other incomplete dominant allele (SS) and sufferers are partly expressed as heterozygous (HS)

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14
Q

What’s sex linked inheritance and how does it work?

A

Males are more affected than female. Affected males can’t pass to sons (due to Y chromosome) but will pass affected Allen to all daughters (some grandsons of males shows trait).

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15
Q

What normal for sickle cell, sickle cell disease and sickle cell trait?

A

Normal (HH)
Sickle cell disease (SS)
Sickle cell trait (HS)

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16
Q

What’s postnatal screening for and what do they test for?

A

Diagnostic test for metabolic disorder after baby is born and test for PKU