Prenatal Testing - Invasive and Non-invasive Tests Flashcards

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1
Q

Why aren’t invasive tests part of routine procedure?

A

They come with risks to the mother and fetus, namely an increased risk of miscarriage

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2
Q

For which 3 reasons would a woman be offered an invasive prenatal test?

A
  1. Mother’s age is over 35
  2. Positive results from a screening test
  3. Family history of a genetic condition for which a test exists
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3
Q

Why would a woman be offered an invasive test because she is over 35?

A

Risk of aneuploidies and miscarriages increase with the age of the mother

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4
Q

What are the two invasive prenatal tests?

A

Chorionic villus sampling and amniocentesis

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5
Q

What is chorionic villus sampling?

A

A small amount of tissue is taken from the chorionic villus, which is genetically identical to the fetus

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6
Q

When does chorionic villus sampling become available?

A

At 11 weeks

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7
Q

What does chorionic villus sampling test for?

A

Trisomies and any other genetic conditions that we have a test for

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8
Q

What are the risks with chorionic villus sampling?

A

Elevated risk of miscarriage by 1-2%

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9
Q

What is amniocentesis?

A

A needle is inserted transabdominally into the uterus and a sample of amniotic fluid is taken, which will have some shed fetal cells

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10
Q

When does amniocentesis become available?

A

At 15 weeks

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11
Q

What does amniocentesis test for?

A

Trisomies and any other genetic conditions we have a test for

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12
Q

What are the risks with amniocentesis?

A

An elevated risk of miscarriage by 0.5%

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13
Q

Is amniocentesis or chorionic villus sampling used more often?

A

Amniocentesis. It has a lower risk of miscarriage

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14
Q

Are amniocentesis and chorionic villus sampling diagnostic or screening tests?

A

Diagnostic

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15
Q

What is non-invasive prenatal testing?

A

A blood sample from the mother is taken, which will contain fragments of fetal DNA which can be amplified and tested

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16
Q

When does non-invasive prenatal testing become available?

A

At 10 weeks

17
Q

What does non-invasive prenatal testing test for?

A

Aneupoidies and other genetic conditions we have a test for

18
Q

Is non-invasive prenatal testing a screening or a diagnostic test?

A

Considered to be a screening test

19
Q

Does non-invasive prenatal testing have a risk of false positives and false negatives?

A

Very small compared to the risk for other screening tests