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MI and Genomics > GM 04: Population/Prenatal Screening > Flashcards

GM 04: Population/Prenatal Screening Flashcards

1
Q

T/F: Screening can be justified, despite treatment options for disorder.

A

False

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2
Q

The (X) of a disease should be high to justify cost-benefit of screening.

A

X = prevalence

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3
Q

Screening tests should be “accurate” in terms of which three characteristics?

A
  1. Sensitivity
  2. Specificity
  3. Predictive value
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4
Q

Good screening tests have (high/low) specificity. If not, you get false (positive/negative).

A

High;

Positive

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5
Q

Good screening tests have (high/low) sensitivity. If not, you get false (positive/negative).

A

High;

Negative

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6
Q

Define incidence. Give example.

A

Number of individuals DEVELOPING disease over period of time (I.e. New colon cancer cases within the last year)

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7
Q

Define prevalence. Give example.

A

TOTAL number of individuals with disease at particular time (i.e. All individuals with colon cancer in May 2016)

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8
Q

Define sensitivity of screen/test.

A

Proportion of AFFECTED individuals correctly identified by test (true positives)

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9
Q

Define specificity of screen/test.

A

Proportion of UNAFFECTED individuals correctly identified by test (true negatives)

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10
Q

Define positive predictive value.

A

Proportion of patients with positive test results that truly have disease

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11
Q

Define negative predictive value.

A

Proportion of patients with negative test results that truly don’t have disease

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12
Q

List some examples of population screening currently used.

A
  1. Pap smear (cervical cancer)

2. Prostate-specific antigen (men over 50; prostate cancer)

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13
Q

T/F: NBS (newborn screening) is mandatory in all states for all disorders.

A

False - mandatory in all states, but only for specifically named disorders

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14
Q

Expert Panel originally decided that NBS is required for how many conditions?

A

29

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15
Q

Hearing impairment is discovered in newborn. Which test is performed next?

A

Direct DNA mutation analysis of connection-26 gene

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16
Q

(X)% of all babies have CHD. Heart defect screening is now recommended via (Y).

A 
X = 1
Y = pulse oximetry
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17
Q

T/F: Carrier screens typically detect 100% of carriers.

A

False

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18
Q

It’s recommended that CF carrier screening be offered to:

A

All couples of childbearing age who are Caucasian or Ashkenazi Jew

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19
Q

Standard screening includes the most common (X) number of CF mutations out of the (Y) that have been reported.

A 
X = 23
Y = 1900
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20
Q

Individuals of certain ethnic group more likely to carry certain (dominant/recessive) conditions due to (X) phenomenon.

A

Recessive;

Founder mutation

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21
Q

(X)% of people worldwide are carriers of a hemoglobinoathy. List some of these diseases.

A

X= 7

Sickle Cell , beta/alpha thalassemia

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22
Q

Routine carrier screening for hemoglobinopathies is done via which methods?

A
  1. Hb Electrophoresis

2. CBC

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23
Q

Tay-Sachs is a(n) (X) disease. Children live up to age of (Y).

A 
X = fatal neurodegenerative;
Y = 5
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24
Q

Tay-Sachs is especially prevalent in (X) population. Approximately how common is the disease gene mutation in this population?

A

X = Ashkenazi Jewish

1 in 25 Jews carry the mutation

25
Q

Normal population carries Tay-sachs mutation at what rate?

A

1 in 300

26
Q

T/F: Screening has brought down the number of Tay-Sachs births in Jewish community below that of non-Jewish community.

A

True

27
Q

T/F: Mutations for Tay-Sachs among Jews are generaly the same as those found in other populations.

A

False

28
Q

(X) is more successful than (Y) in screening for Tay-Sachs mutation in non-Jewish populations.

A 
X = enzyme screening;
Y = genotyping
29
Q

It’s standard practice to recommend carrier screening for which disease genes to Ashkenazi Jews planning pregnancy?

A
  1. CF
  2. Canavan and familial dysautonomia
  3. Tay-Sachs
30
Q

There are no published recommendations for carrier screening in (X) population, despite high frequencies for (Y).

A 
X = Hispanic
Y = Sickle-cell anemia
31
Q

List the proposed criteria for Ashkenazi Jewish Screening panel.

A
  1. Serious and well-described
  2. Sensitivity over 90% OR carrier frequency greater than 1/100
  3. Testing available
32
Q

Jewish beliefs that influence reproduction: Termination of pregnancy (can/can’t) be performed if (X).

A

Can;

X = prior to 40 days

33
Q

Jewish beliefs that influence reproduction: have (few/many) (boys/girls).

A

Many (fruitful/multiply); at least one boy and one girl

34
Q

T/F: Pre- and Post-natal testing are reproductive options according to Jewish beliefs.

A

True

35
Q

T/F: Adoption is not a real reproductive option according to Jewish beliefs.

A

False

36
Q

Women have (X) number of fetal ultrasounds in first trimester. Which two things does the ultrasound measure?

A

X = 1-2

  1. Gestational age
  2. Nuchal translucency
37
Q

Increased nuchal translucency, measurement taken via (X) technique, is indicative of:

A

X = ultrasound;

Increased risk for:
1. Aneuploidy
2. Heart defects
3. Skeletal dysplasia
4. Noonan syndrome
OR nothing at all...
38
Q

Why have certain pan-ethic screens, such as (X), not been incorporated as standard of care?

A

X = skeletal muscular dystrophy and fragile X syndrome

Complex molecular tests and multiple implications of results

39
Q

Aim for maternal serum screening (MSS) is to:

A

Identify pregnancies with increased risk of open neural tube defect or chromosome abnormality

40
Q

First trimester MSS screening involves measuring serum levels of:

A
  1. PAPP-A (protein)

2. hCG (gonadotropin)

41
Q

T/F: All women benefit from maternal serum screening.

A

False

42
Q

Currently, MSS results are reported as (X) if the risk is above a certain cut-off. This is a loaded term.

A

X = “Screen Positive”

43
Q

MSS results would best be reported using words/phrases like (X).

A

X = “high risk” or “abnormal”

44
Q

Non-invasive prenatal screening (NIPS) has recently started to involve looking at (maternal/fetal) (X), which is detectable as early as (Y) weeks of pregnancy and has very (short/long) half-life.

A

Fetal;
X = nucleic acid (cell-free DNA)
Y = 7
Short

45
Q

What’s the major benefit of using non-invasive cfDNA testing?

A

Offers detection rates for trisomy 21 and 18 without risk of miscarriage (since non-invasive)

46
Q

Limitation: (X) value of non-invasive cfDNA testing is less than ideal.

A

X = positive predictive

47
Q

T/F: It’s safe to say that all patients will benefit from prenatal screening and diagnostic testing.

A

False

48
Q

Prenatal diagnosis can be performed via which method(s)?

A
  1. CVS (chorionic villus sampling)
  2. Amniocentesis
  3. PUBS (percutaneous umbilical blood sampling)
  4. Fetal biopsy
49
Q

T/F: Prenatal diagnosing, unlike screening, can identify all pregnancies that will have particular condition.

A

False

50
Q

T/F: CVS and Amniocentesis are nearly 100% accurate methods of prenatal diagnosis.

A

True

51
Q

Risk of miscarriage is greater in (CVS/amniocentesis).

A

CVS (1 in 100)

52
Q

(X)% of maternal DNA is fetal in origin. This varies by which characteristics of pregnancy?

A

X = 10-15

Health, weight, ethnicity

53
Q

T/F: cfDNA has improved accuracy, sensitivity, and specificity over MSS.

A

True

54
Q

List limitations of cfDNA testing.

A
  1. Only some chromosomes analyzed

2. 1-5% “no def answer”

55
Q

T/F: cfDNA can detect open neural tube defects.

A

False

56
Q

Pregnant patient has previous pregnancy with aneuploidy. Which type of prenatal diagnostic test might you suggest?

A

Cytogenetic (karyotype) analysis

57
Q

Pregnant patient is confirmed carrier of genetic condition. Which type of prenatal diagnostic test might you suggest?

A

Molecular genetic analysis

58
Q

Which type of prenatal diagnostic test is used to detect open neural tube defects?

A

Biochemical analysis

59
Q

Based on some studies, about (X)% diagnoses of aneuploidy are terminated.

A

X = 70-80

MI and Genomics (16 decks)

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