Prenatal screening care Flashcards

(81 cards)

1
Q

What is the purpose of genetic evaluation

A

probability of petal abnormality
probability of complication from invasive fetal testing
important of knowing results

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2
Q

what are routine first trimester tests

A

pregnancy test, blood test, urine test
dating ultrasound
maternal blood serum screening
nuchal translucency screening

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3
Q

what are routine 2nd trimester tests

A

urine tests
fetal heart rate monitoring
glucose challenge screening
quad screening anomaly ultrasound

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4
Q

What are are routine 3rd trimester tests

A

urine test
fetal heart rate monitoring
group B strep test
baby kick count

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5
Q

what are the benefits of screening and diagnostic testings

A

planning for birth
planning for services after birth
pregnancy termination

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6
Q

what are the risks of screening and diagnostic testings

A

false positives
family stress
unnecessary invasive testing
damage to fetal tissue or pregnancy loss

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7
Q

what is identification of an asymptomatic disease, harmful condition or risk factor

A

screening

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8
Q

what gives the probability that the fetus will have a disorder (PPV and NPV)

A

prenatal screening test

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9
Q

what gives a definitive answer (provides a diagnosis)

A

diagnostic test

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10
Q

what are the two genetic fetal diagnostic testing

A

chronic villus sampling and amniocentesis

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11
Q

when do you go directly to a diagnostic test?

A

history of trisomy in prior pregnancy
major anomalies on fetus ultrasound
genetic abnormalities in mother or father - translocation, inversion, aneploidy

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12
Q

at what point is chorionic villus sampling done

A

between 10 and 13 weeks gestation: provides earlier results
biopsy of the placental tissue

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13
Q

What are the possible complications of chorionic villus sampling

A

errors due to maternal cell contamination (rare)
fetal loss (~0.2%)
transverse limb defects and oromandibular-limb hypogenesis (very rare)

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14
Q

When is amniocentesis completed

A

> 15 weeks gestation
offered to pregnant women >35 yo

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15
Q

what is given to Rh-negative unsensitized women when pregnant

A

Rho(D) immune globulin 300mcg

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16
Q

What are the possible complications of amniocentesis

A

maternal morbidity (rare)
risk of feral loss (0.1-0.2%)
vaginal spotting or amniotic fluid leakage, usu. self-limited
done < 14weeks gestation (rarely done) - higher rate of fetal loss, increased risk of talipes equinovarus (clubbed feet)

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17
Q

what is a fetal blood sample taken via percutaneous puncture of umbilical cord vein under US

A

percutaneous umbilical blood sampling

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18
Q

What is PGT

A

perimplantation genetic testing
prior to IVF implantation

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19
Q

what are the forms of PGT

A

PGT-M: risk of certain medelian d.o in fetus is high
PGT-A OR PGT-SR: chromosomal abnormalities in fetus is a risk
PGT-A: primarily for embryos from older women; routine use is controversial

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20
Q

What are risk factors of genetic disease

A

advanced maternal age (>35yo)
previous pregnancy or child with chromosomal abnormality
hx recurrent spontaneous abortion
parents are known carriers or have known genetic abnorm
medications or environmental exposure
Fhx
ethnicity

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21
Q

what populations have a higher rate of carriers for multiple genetic dorders

A

ashkenazi jewish
central and europe: germancy, france, poland, hungary, russia, ukraine, lithuania

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22
Q

What do we commonly screen for in pregnancy

A

CF
hemoglobinopathies
neural tube defects
trisomy 21
trisomy 18 (edwards)
trisomy 13 (patau)
spinal muscular atrophy
tay-sachs disease (ashkenazi jews)

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23
Q

how is CF diagnosed prenatally

A

requires invasive testing
chorionic villous sampling and amniocentesis

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24
Q

how are hemoglobinopathies diagnosed prenatally

A

requires invasive testing
chorionic villous sampling and amniocentesis

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25
what are the tests used to screen for neural tube defects
Maternal serum alpha fetoprotein (MSAFP) Transvaginal ultrasound (TVUS) - more sensitive, test of choice
26
What are the maternal serum markers (MSM)
Alpha fetoprotein (AFP) Uncongugated esteriol (uE3) Human chorionic gonadotropin (hCG) inhibin A (Inh A) pregnancy associated plasma protein A (PAPP-A)
27
What are integrated screenings
non-invassive screenings for downs, trisomy 18 and neural tube defects P1: 11 to 13 weeks: US and PAPP-A P2: 15 to 22 weeks: quad screen
28
what are sequential screening
non-invasive screenings for downs, trisomy 18 and neural tube dfects part 1: 11 to 13 weeks: US, PAPP-A, total human chorionic gonadotropins (hCG) part2: 15 to 22 weeks: quad screening
29
when are prenatal ultrasounds recommended
18-22 weeks
30
what is targeted ultrasound
high-resolution US: provides more detailed images than standard indicated for couples with family history of congenital malformation may also be used if maternal serum marker levels are abnormal
31
What is the Quad screen
alpha fetoprotein uncongugated estriol human chorionic gonadotropin inhibin A
32
what defects can be found on targeted ultrasound
renal malformations lethal forms of short-limbed skeletal dysplasias gut malformations diaphragmatic hernia microcephaly hydrocephalus
33
What to do with abnormal screening results?
referral to genetic counseling offer invasive diagnostic testing (for conclusive answer)
34
what is NIPT
non-invasive prenatal testing cell-free DNA or cfDNA screens for: trisomy, 13,18,21
35
What are the phases of childbirth (parturition)
Quiescence Activation Stimulation Involution
36
what are presumptive signs of pregnancy
subjective signs but may not be due to pregnancy missed period or unusually bleeding pattern nausea/vomiting breast changes, size, tenderness, increased sensation increased urinary frequency
37
what are probably signs of pregnancy
enlargement of uterus Hegars sign chadwicks sign goddells sign piskacek's sign positive HCG tets skin changes
38
what is hegars sign
softening of uterine isthmus
39
what is bluish or cyanotic appearance of cervix
chadwicks sign
40
what is piskacek's sign
asymmetric buldge of soft prominance of uterus caused by placental develpment
41
what are positive signs of pregnancy
fetus identified by ultrasound fetal heartbeat by doppler or auscultation objective detection of fetal movement by healthcare provider delivery of baby
42
when is hCG detectible in blood and urine
blood: 8 days after conception urine 10 days after conception peaks at 9-10 weeks gestation
43
how quickly does hCG levels increase
doubles every 48 hours the first few weeks of pregnancy
44
What is Naegele's rule
(LMP - 3 months) + 1 year + 7 days - estimated due date (EDD)
45
what is the duration of the first trimester
weeks 0-13
46
what is the duration of second trimester
weeks 14-27
47
what is the duration of third trimester
weeks 28-40
48
when is fetal heart beat detectable
by 9-10 weeks via doppler (often closer to 10-12 weeks)
49
when is the uterus palpable in abdomen
by 12 weeks
50
when is fetal movement felt by mom
18-20 weeks
51
when does the fundus reach the umbilicus
20 weeks
52
when is fetal movement observable
by examiner/partner after 24 weeks
53
when does the fundus reach max height
36 weeks at level of xiophoid process around 36 weeks
54
how many visits are part of a normal pregnancy prenatal care
14 visits office visit at 8-10 weeks every 4 weeks for first 28 weeks every 2-3 weeks until 36 weeks every week after 36 weeks
55
what is Nullgravida
person who has never been pregnant and is not currently pregnant
56
what is nulliparous (nullip)
person who has not given birth previously
57
what is primigravida
person int heir first pregnancy aka primip
58
what is primiparous
person who has given birth once
59
what is multigravida
person who has been pregnant more than once
60
what is multiparous (multip)
person who has given birth more than once
61
what is gravidity
number of pregnancies regardness of outcomes
62
what is parity
number of births >20weeks gestation regardless of number of fetuses or outcomes
63
what is term
deliveries >37 completed weeks
64
what is preterm
deliveries from 20-37 weeks regardless of outcomes
65
32 year old with a history of 3 pregnancies, 1 term, 1 pre-term who died shortly after birth and 1 spontaneous abortion at 18 weeks
G3,P1111
66
what are risk factors for gestational diabetes
first degree relative with diabetes prior gestational diabetets (GDM) weight gain > 11lbs since 18th birthday maternal age > 35 yo baby with macrosomia (>9lbs) in previous pregnancy AA, Asian american, hispanic, native american, or pacific island backgorund
67
what are action items for every prenatal visit
vitals, weight, fetal assessment, monitor uterine size to assess growth, domestic violence screening, asses tobacco and secondhand smoke exposure, review meds and allergies for changes/intolerances, urine dip for protein and glucose
68
what are normal caloric requirements for pregancy
2200 - 2900calories per day
69
what are prenatal risks/warning signs during first trimerster
spontaneous abortion (SAB), hyperemesis, toxic exposures counsel - bleeding, severe pain, N/V/D, s/sx of infection
70
what are prenatal risks/warning signs during 2nd trimester
insufficient cervix, genetic issues, preterm labor (PTL) counsel- identified risks, confirm fetal movement (FM) felt at 18-20 weeks, PTL, contractions (CTX)
71
what are prenatal risks/warning signs during 3rd trimester
intrauterine growth retardation (IUGR), PTL, decreased FM, preeclampsia/pregnancy induced hypertension (PIH)
72
what occurs at the 12 week prenatal visi
check symptoms: emotional and physical PE: BP, weight, abd exam check fetal heart tones review initial lab findings: iron supp if needed discuss genetic screening
73
what occurs at the 18-20 week prenatal visit
confirm presence of "quickening" fetal movement/flutters PE: weight, BP, urine dip, screening for UTI new onset elevated BP after 20 weeks = gestational HTN/preeclampsia US
74
what occurs at the 24 week prenatal visit
PE: weight, BP, urine fundal height check fetal heartbeat and growth screening for gestational diabetes babys medical provider selection discuss breast feeding discuss post-partum contraception
75
what occurs at 28 week prenatal visit
kick counts lab studies: anemia, Test for GDM-OGTT RH immune globulin if Rh negative
76
what occurs at 27-36 week prenatal visit
Tdap administration to protect from pertussis repeat testing for at risk STI discuss group B strep screening and management
77
what occurs at 32 week prenatal visit
weight, BP: screening for PIH/preeclampsia fundal heights, fetal movement, fetal heartbeat vaginal leaking or bleeding braxton hicks contractions preterm labor (before 37 weeks) signs/sx tdap vaccines contraception plan/breast or formula
78
what occurs at 36 week prenatal visit
readiness at home weight/BP fundal height, fetal movement, fetal heartbeat fetal position- leopolds maneuvers group b strep screen discuss HSV prophylaxis labor education
79
how do you determine Leopolds maneuvers
1. delineates fundal height 2. hands on either side of uterus to determine fetal lie 3. pawlicks grip - both hands on upper and lower poles of fetus to determine presentation - allows estimation of fetal size 4. hands pointing to moms feet, determines whether or not presenting part of engaged in pelvis
80
what occurs at 38-40 week prenatal visit
contraception plans weight/BP fundal height, FM, FHB vaginal leaking/bleeding braxton hicks labor signs/sx and when to call discuss timing for later term induction of labor (IOL) discuss post-term planning cervical exam if desired, NOT required
81
what occurs at 41 week prenatal visit
offer induction (IOL) > 41 weeks test for fetal well being: US, fetal non-stress test (NST), biophysical profile (BPP) combination US and NST, contraction stress test (CST)