Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

NURS743 Fetal Eval > QUIZ 5 > Flashcards

QUIZ 5 Flashcards

1
Q

inherited conditions

A
  • a condition that can be tracked through a family

- family hx may predispose you to them

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the types of inherited conditions?

A

1) Mendelian patterns (e.g. cystic fibrosis, Tay Sachs)
2) multifactorial (e.g. addiction, Alzheimer’s, schizophrenia, autism)
3) multigenic (e.g. red hair, freckles)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

genetic components

A

conditions that are affected by genetic changes (e.g. mutations, deletions, etc) that are not related to family hx/are new onset

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

When should pts be referred to genetic counseling?

A

1) family hx
2) delayed growth and development
3) reproductive issues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the cause of birth defects?

A

most unknown

Complex mix of:

1) genetics
2) behaviors
3) environmental factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are risk factors for birth defects?

A

1) smoking, EtOH, recreational drugs during pregnancy
2) maternal medical conditions (e.g. GDM)
3) medications (e.g. isotretinoin)
4) family hx of birth defects
5) AMA (>35yo)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Define spina bifida

A

neural tube defect in which spine and spinal column abnormally form –> spinal cord and nerves exposed through opening in back

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are associated sx of spina bifida?

A
  • bladder and bowel problems
  • sexual dysfunction
  • weakness and loss of sensation below level of defect
  • inability to move lower legs
  • cognitive defects
  • orthopedic malformations (e.g. club feet, knee/hip problems)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

True or false: the higher the defect in spina bifida, the more severe the condition

A

true

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

True or false: the majority of spina bifida cases are inherited

A

false; is multifactorial

Familial, but no apparent pattern of inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are maternal risk factors for spina bifida?

A
  • lack of folic acid supplementation
  • maternal fever (>102º) or exposure to sauna/jacuzzi in first trimester
  • diabetes
  • medication exposure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the goal of carrier screening?

A

identify individuals at risk to have offspring w/ genetic disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What carrier screens are offered to all patients?

A

1) cystic fibrosis

2) spinal muscular atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What types of carrier screens should be offered to specific patients?

A

1) ethnicity-based screens
- hemoglobinopathies (African, Mediterranean, SE Asia)
- Ashkenazi Jewish diseases (ACOG: 4 disorders; ACMG: 9 disorders)
2) family hx/personal-based hx (e.g. fragile X)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Define aneuploidy

A

changes in numbers of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Define trisomy

A

one extra copy of a single chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Define monosomy

A

one missing copy of a single chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Define triploidy

A

three copies of every chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the most common genetic cause of miscarriage and birth defects?

A

aneuploidy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Which of the types of aneuploidy have an age-related risk?

A

trisomies

risk for trisomy increases w/ maternal age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are associated birth defects of trisomy 13?

A

1) brain or spinal cord anomalies
2) small/poorly developed eyes (microphthalmia)
3) extra digits
4) congenital heart defects
5) cleft lip/palate
6) weak muscle tone (hypotonia)
7) severe intellectual disability
8) seizures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Of trisomies 13, 18, and 21, which has the best prognosis?

A

trisomy 21

trisomy 13 and 18 = POOR prognosis; many fetuses do not survive to term

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are associated birth defects of trisomy 18?

A

1) intrauterine growth retardation; low birth weight
2) small head w/ abnormal shape; small jaw and mouth
3) choroid plexus cysts
4) congenital heart defects
5) clenched hands w/ overlapping fingers
6) rocker bottom feet
7) failure to thrive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is trisomy 21 most commonly known as?

A

Down Syndrome

25
Q

What are the associated birth defects of trisomy 21?

A

1) congenital heart defects (seen in ~50%)
2) duodenal atresia
3) soft signs: absent/short nasal bone, enlarged kidneys, shortened long bones, fifth finger clinodactyly
4) characteristic facial features

26
Q

What are associated medical conditions of trisomy 21?

A

1) GERD
2) Celiac disease
3) hypothyroidism
4) increased risk of hearing and vision problems
5) increased risk leukemia
6) increased risk Alzheimer disease

27
Q

What are learning and behavior deficits people with trisomy 21 experience?

A

1) mild to moderate intellectual disability
2) delayed speech and language
3) attention problems, OCD, stubbornness, tantrums
4) Autism spectrum disorders

28
Q

True or false: Down syndrome is hereditary and runs in families

A

false

29
Q

T or F: risk of having child w/ Down syndrome increases w/ AMA

A

true

most children born w/ Down syndrome are born to women <35 yo
BUT
AMA increases risk

30
Q

According to ACOG, to whom and when should aneuploidy screening be offered?

A

ALL pts before 20 wks

31
Q

T or F: according to ACOG, invasive screening should only be offered to pts >35yo

A

false

32
Q

screening or diagnostic?

Identifies a condition

A

diagnostic

*screening identifies risk

33
Q

screening or diagnostic?

Casts a wide net to best identify true positives

A

screening - causes rates of false positives to increase

*diagnostic has low false positives

34
Q

screening or diagnostic?

Typically, no risk to pregnancy

A

screening

*diagnostic have risk associated

35
Q

screening or diagnostic?

Assesses broad set of conditions

A

diagnostic

*screening is limited: common trisomies, selected microdeltions/microduplications

36
Q

What does maternal serum screening identify?

A

pregnant people who are at “high risk” of having baby w/ trisomies 13, 18, or 21 as well as NTD

37
Q

How is maternal serum screening completed?

A

Combination of:

1) U/S (first-trimester screening)
2) maternal blood work
3) maternal demographics

38
Q

What are the 4 types of maternal serum screenings?

A

1) first trimester screening
2) quad screen
3) sequential screen
4) integrated screen

39
Q

When is the first trimester screen performed?

A

11.0-13.6 wks

40
Q

What is required to perform the first trimester screen?

A

1) U/S for nuchal translucency

2) blood work

41
Q

For what does the first trimester screen?

A

1) Down syndrome

2) trisomy 18

42
Q

When is the quad screen performed?

A

15.0-21.6 wks

43
Q

What is required to perform the quad screen?

A

blood work

44
Q

For what does the quad screen?

A

1) Down syndrome
2) trisomy 18
3) open neural tube defects

45
Q

Describe sequential screening

A

perform first trimester screening –>

1) high risk detected –> offer other testing (e.g. cell-free DNA, CVS, amniocentesis)
2) low risk –> collect 2nd trimester blood work –> give one overall risk estimate

46
Q

What is required to perform a sequential screen?

A

1) U/S for nuchal translucency

2) blood work in 1st and 2nd trimesters

47
Q

For what does the sequential screen?

A

1) Down syndrome
2) trisomy 18
3) open neural tube defects

48
Q

Describe an integrated screen

A

Combines first trimester screen and quad screen –> gives one result in 2nd trimester

49
Q

What is required to perform an integrated screen?

A

1) U/S for nuchal translucency

2) blood work in 1st and 2nd trimesters

50
Q

For what does the integrated screen?

A

1) Down syndrome
2) trisomy 18
3) open NTDs

51
Q

Define chorionic villus sampling (CVS)

A

diagnostic test that collects sample of placenta

52
Q

When is CVS performed?

A

10.0-12.0 wks

53
Q

Define amniocentesis

A

collection of amniotic fluid from around baby

54
Q

When is amniocentesis performed?

A

after 15.0 wks

55
Q

What is the most accurate way to get genetic information about baby before birth?

A

amniocentesis

56
Q

Why are invasive diagnostic tests performed?

A

1) dx of genetic conditions
2) confirm infection in pregnancy
3) dx/confirmation of open NTD
4) fetal blood typing
5) understanding kidney function

57
Q

What are the risks of invasive testing?

A
  • infection –>
  • miscarriage <25 wks
  • PTB >25 wks
58
Q

What are the advantages of invasive testing?

A
  • > 99% accurate
  • able to look for chromosomal abnormalities outside common aneuploidies
  • can screen for single gene disorders
  • can have testing done on panels cause a specific phenotype

NURS743 Fetal Eval (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions