Brainscape's Knowledge GenomeTM

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


See full index

OB/Community Health > Genetics & Prenatal Assessment > Flashcards

Genetics & Prenatal Assessment Flashcards

1
Q

What does a Biophysical risk factor mean ?

A

originates within the mother or fetus
- endometriosis
- ectopic pregnancy
- sickle cell anemia
- low/high BMI
- genetics, nutrition, illness
- chronic illnesses, HTN, poorly controlled diabetes

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

What does a Psychosocial risk factor mean ?

A

maternal behaviors/adverse lifestyle
- smoker
- alcohol and drug use
- interpersonal violence
- emotional distress
- social support
- relationships

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

What does a Sociodemographic risk factor mean ?

A

mother/family characteristics
- age (teen or over age 35)
- access to care (ability to pay for adequate foods, health check-ups)
- income
- parity
- ethnicity (some genetic disorders are more common in certain ethnicities)

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

What does Environmental risk factors mean ?

A

exposure to hazards
- occupational hazard (work in factory where exposed to chemicals, cashier who stands all day)
- infection
- drugs
- pollutants

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

At how many weeks do we start to count fetal kicks ?

A

begins at 28 wks gestation

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

What is a fetal kick count ?

A

simple yet variable method to evaluate the condition of the fetus
- non invasive
- baby who kicks is well oxygenated and has a good nervous system
- count # of movements in 1 hour
- 10 movements per hour is normal

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

When should we be concerned about fetal kick counts ?

A

if they have fewer than 10 movements in 2 hours
- needs further investigation and need to call provider

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

What is a Non-Stress Test (NST) ?

A

where accelerations and moderate variability will occur in response to fetal movement
- indicates normoxic fetus with a functioning CNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

When is a Non-Stress test performed ?

A

performed after 28 weeks

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

What is a Reactive (expected value) result of a Non-Stress test (NST) ?

A

2 accelerations within 20 mins
- 28 wks to 32: acceleration of 10 bpm from baseline lasting 10 secs with each fetal movement
- >32 week: increase in 15 bpm from baseline every 15 secs with fetal movement

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

What is a Non-Reactive NST mean ?

A

did not meet criteria within 40 mins
- needs further testing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is a Biophysical Profile (BPP) ?

A

real-time assessment of fetus using ultrasound
- non-invasive
- 30 to 120 mins

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

When is a Biophysical Profile (BPP) performed ?

A

after 28 weeks after non-reactive NST or routine testing with risk factors

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

What are the 5 categories scored in for a Biophysical Profile ?

A
  • breathing movements
  • movements
  • tone
  • amniotic fluid
  • NST
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is a Contraction Stress Test (CST) ?

A

determining fetal heart rate response to contractions (stressor) to see respiratory functioning during stress
- invasive and time consuming
- oxytocin stimulated

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

When is a contraction stress test (CST) performed ?

A

after 34 weeks

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

What are some contraindications for a contraction stress test ?

A

if pt shouldn’t be delivering baby vaginally because of:
- placenta previa (placenta is against the cervix and can cause increased risk of bleeding)
- previous classical c-section
- high risk for preterm labor (multiple gestation)
- PPROM (preterm premature rupture of membranes)

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

What are we looking for in a contraction stress test ?

A

the fetal heart rate (FHR) for decelerations (late or variable) with 3 contractions within 10 minutes

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

What does a negative, positive, or equivocal contraction stress test result mean ?

A
  • Negative: no decels with contractions
  • Positive: late decels with 50% or more contractions
  • Equivocal: decels are intermittent
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How does an ultrasound work ?

A

sound waves are sent through the amniotic fluid and bounce back to reflect a picture
- abdominal or transvaginal (good for early pregnancy)

21
Q

What do we look for in a first trimester ultrasound ?

A
  • confirm pregnancy and viability (heart beat at 8 wks)
  • determine uterine abnormalities
22
Q

What do we look for in a second trimester ultrasound ?

A
  • confirm due date
  • anatomy scan (map out the measurements to see where baby falls)
  • detect anomalies
  • measure growth
  • determine placental location
23
Q

At how many weeks gestation is the anatomy fetus scan ?

A

at 20 wks
- look for placenta placement too

24
Q

What do we look for in the third trimester ultrasound ?

A
  • measure fetal growth
  • assess placental functioning
  • determine fetal presenting part
  • determine placental location
  • perform doppler flow studies
25
Q

What are genes ?

A

the basic physical units of inheritance that specify traits
- genetic testing is a part of the newborn assessment

26
Q

How many chromosomes do we have ?

A

23 pairs
- 22 autosomes
- +1 sex chromosome

27
Q

What are some examples of a chromosomal, singe-gene and complex disorder ?

A
  • Chromosomal: trisomy 13, 18, and 21 (21 is down syndrome and 13 & 18 have many disease incompatible with life)
  • Single-gene: sickle cell anemia, cystic fibrosis, Huntington’s
  • Complex: neural tube detect (spinal bifida), diabetes, cancer
28
Q

What chromosome causes Down syndrome ?

A

triosomy 21
- extra chromosome at #21
- risk increases with those pregnancies above the age of 35
- life expectancy is 47 yrs old

29
Q

What are some common associated health conditions for someone with down syndrome ?

A
  • congenital heart defects
  • hearing loss
  • obstructive sleep apnea
  • ear infections
  • eye disease/need for glasses
30
Q

What are some physical characteristics (phenotype) of someone with Down syndrome ?

A
  • almond shaped eyes with upward slant
  • small or low-set ears
  • flat nasal bridge
  • palmar crease
  • hypotonia: don’t want to flex as much (limp baby)
  • tongue protrusion
31
Q

What is a Dominant Autosomal Inheritance Disorder ?

A
  • Huntington’s, Marfan syndrome
  • only requires 1 abnormal gene to have disorder
  • if parent passes down the disease, offspring has 50% chance of inheritance
32
Q

What is a Recessive Autosomal Inheritance Disorder ?

A
  • sickle cell anemia, cystic fibrosis, tay-sachs disease
  • both genes must be abnormal to have disorder
  • one affected gene means they are a carrier (only exists in recessive disorders)
  • if both parents are carriers, offspring has 25% chance of inheritance
33
Q

What is Cell Free DNA (cfDNA) ?

A

a screening tool to test for certain disorders/syndrome’s
- maternal plasma contains small fragments of fetal cfDNA
- doesn’t diagnose
- less sensitive in obese pt’s

34
Q

When can we perform cell free DNA screenings ?

A

10-12 wks gestation
- for trisomy 13, 18, and 21
- if positive then need further testing
- not good option for twins because don’t know which fetus it affects

35
Q

What is Fetal Nuchal Translucency ?

A

where you measure the fluid in the nape of the neck via ultrasound
- an early indicator of down syndrome, trisomy 18 or heart problems
- a SCREENING tool

36
Q

How many mm of nuchal fluid is considered abnormal ?

A

> 3 mm nuchal fluid
- if abnormal consider other testing like CVS, amniocentesis

37
Q

What is a Quad screen ?

A

maternal blood test to screen for neural tube defects (NTD) and down syndrome (Ds)
- 4 components
- AFP (alpha-fetoprotein) alone is recommended for all pregnant pt’s

38
Q

What are the 4 components in a Quad screen ?

A
  • Alpha-Fetoprotein (AFP): produced by fetal liver and GI system
  • Human Chorionic Gonadotropin (hCG): pregnancy hormone
  • Inhibin A
  • Estriol: estrogen derivative
39
Q

When is a quad screen done ?

A

at 16-18 wks gestation

40
Q

When is a Chorionic Villus Sampling (CVS) done ?

A

10-13 wks gestation

41
Q

What is a chorionic villus sampling (CVS) ?

A

DIAGNOSTIC test to determine fetal genetic abnormalities
- removal of small tissue specimen from fetal portion of placenta
- invasive with risks
- transvaginal or abdominal with ultrasound guidance

42
Q

What are some risks of CVS ?

A
  • miscarriage
  • fetal limb anomaly
  • Rh incompatibility
  • hemorrhage
  • infection
43
Q

What are some indications (reasons) CVS (chorionic villus sampling) may be done ?

A
  • previously affected child or family history of a genetic disease, chromosomal abnormality, or metabolic disorder
  • maternal age >35 by due date
  • risk of sex-linked genetic disease
  • previous ultrasound with questionable or abnormal findings
  • abnormal cfDNA
44
Q

What are the 2 diagnostic tests in genetics ?

A
  • Chorionic Villus Sampling (CVS)
  • Amniocentesis
45
Q

What is Amniocentesis ?

A

DIAGNOSTIC test to determine genetic concerns, and fetal lung maturity
- needle inserted through maternal abdominal wall to collect amniotic fluid for analysis (essentially fetal urine full of fetal cells)
- ultrasound guided

46
Q

When is Amniocentesis done ?

A

14-18 wks for genetics
- or in 3rd trimester to determine lung maturity (surfactant needed at expand alveoli at birth)

47
Q

What are some potential risks of a Amniocentesis ?

A
  • miscarriage
  • infection
  • damage to organs
  • Rh sensitization
  • preterm labor
  • leakage of amniotic fluid
48
Q

What are some RN considerations for genetics and prenatal education ?

A
  • identify families at risk
  • give info, resources and education
  • testing available and information it will provide
    • post-op assessment and education
  • administer, assist, and/or interpret findings
    • administer and interpret NST and CST
    • Assist with CVS and Amniocentesis
  • develop plan of care for families affected by genetic conditions
  • provide emotional support
49
Q

What are “soft markers” ?

A

indicators to a potential genetic disorder/syndrome
- not diagnostic

OB/Community Health (12 decks)

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