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

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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

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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)

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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

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5
Q

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

A

begins at 28 wks gestation

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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

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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

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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

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9
Q

When is a Non-Stress test performed ?

A

performed after 28 weeks

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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

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11
Q

What is a Non-Reactive NST mean ?

A

did not meet criteria within 40 mins
- needs further testing

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12
Q

What is a Biophysical Profile (BPP) ?

A

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

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13
Q

When is a Biophysical Profile (BPP) performed ?

A

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

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14
Q

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

A
  • breathing movements
  • movements
  • tone
  • amniotic fluid
  • NST
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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

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16
Q

When is a contraction stress test (CST) performed ?

A

after 34 weeks

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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)

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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

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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
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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
What are genes ?
the basic physical units of inheritance that specify traits - genetic testing is a part of the newborn assessment
26
How many chromosomes do we have ?
23 pairs - 22 autosomes - +1 sex chromosome
27
What are some examples of a chromosomal, singe-gene and complex disorder ?
- 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
What chromosome causes Down syndrome ?
triosomy 21 - extra chromosome at #21 - risk increases with those pregnancies above the age of 35 - life expectancy is 47 yrs old
29
What are some common associated health conditions for someone with down syndrome ?
- congenital heart defects - hearing loss - obstructive sleep apnea - ear infections - eye disease/need for glasses
30
What are some physical characteristics (phenotype) of someone with Down syndrome ?
- 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
What is a Dominant Autosomal Inheritance Disorder ?
- 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
What is a Recessive Autosomal Inheritance Disorder ?
- 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
What is Cell Free DNA (cfDNA) ?
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
When can we perform cell free DNA screenings ?
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
What is Fetal Nuchal Translucency ?
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
How many mm of nuchal fluid is considered abnormal ?
>3 mm nuchal fluid - if abnormal consider other testing like CVS, amniocentesis
37
What is a Quad screen ?
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
What are the 4 components in a Quad screen ?
- Alpha-Fetoprotein (AFP): produced by fetal liver and GI system - Human Chorionic Gonadotropin (hCG): pregnancy hormone - Inhibin A - Estriol: estrogen derivative
39
When is a quad screen done ?
at 16-18 wks gestation
40
When is a Chorionic Villus Sampling (CVS) done ?
10-13 wks gestation
41
What is a chorionic villus sampling (CVS) ?
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
What are some risks of CVS ?
- miscarriage - fetal limb anomaly - Rh incompatibility - hemorrhage - infection
43
What are some indications (reasons) CVS (chorionic villus sampling) may be done ?
- 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
What are the 2 diagnostic tests in genetics ?
- Chorionic Villus Sampling (CVS) - Amniocentesis
45
What is Amniocentesis ?
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
When is Amniocentesis done ?
14-18 wks for genetics - or in 3rd trimester to determine lung maturity (surfactant needed at expand alveoli at birth)
47
What are some potential risks of a Amniocentesis ?
- miscarriage - infection - damage to organs - Rh sensitization - preterm labor - leakage of amniotic fluid
48
What are some RN considerations for genetics and prenatal education ?
- 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
What are "soft markers" ?
indicators to a potential genetic disorder/syndrome - not diagnostic