Prenatal screening care Flashcards

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
Q

what are the tests used to screen for neural tube defects

A

Maternal serum alpha fetoprotein (MSAFP)
Transvaginal ultrasound (TVUS) - more sensitive, test of choice

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26
Q

What are the maternal serum markers (MSM)

A

Alpha fetoprotein (AFP)
Uncongugated esteriol (uE3)
Human chorionic gonadotropin (hCG)
inhibin A (Inh A)
pregnancy associated plasma protein A (PAPP-A)

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27
Q

What are integrated screenings

A

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

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28
Q

what are sequential screening

A

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

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29
Q

when are prenatal ultrasounds recommended

A

18-22 weeks

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30
Q

what is targeted ultrasound

A

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

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31
Q

What is the Quad screen

A

alpha fetoprotein
uncongugated estriol
human chorionic gonadotropin
inhibin A

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32
Q

what defects can be found on targeted ultrasound

A

renal malformations
lethal forms of short-limbed skeletal dysplasias
gut malformations
diaphragmatic hernia
microcephaly
hydrocephalus

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33
Q

What to do with abnormal screening results?

A

referral to genetic counseling
offer invasive diagnostic testing (for conclusive answer)

34
Q

what is NIPT

A

non-invasive prenatal testing
cell-free DNA or cfDNA
screens for: trisomy, 13,18,21

35
Q

What are the phases of childbirth (parturition)

A

Quiescence
Activation
Stimulation
Involution

36
Q

what are presumptive signs of pregnancy

A

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
Q

what are probably signs of pregnancy

A

enlargement of uterus
Hegars sign
chadwicks sign
goddells sign
piskacek’s sign
positive HCG tets
skin changes

38
Q

what is hegars sign

A

softening of uterine isthmus

39
Q

what is bluish or cyanotic appearance of cervix

A

chadwicks sign

40
Q

what is piskacek’s sign

A

asymmetric buldge of soft prominance of uterus caused by placental develpment

41
Q

what are positive signs of pregnancy

A

fetus identified by ultrasound
fetal heartbeat by doppler or auscultation
objective detection of fetal movement by healthcare provider
delivery of baby

42
Q

when is hCG detectible in blood and urine

A

blood: 8 days after conception
urine 10 days after conception
peaks at 9-10 weeks gestation

43
Q

how quickly does hCG levels increase

A

doubles every 48 hours the first few weeks of pregnancy

44
Q

What is Naegele’s rule

A

(LMP - 3 months) + 1 year + 7 days - estimated due date (EDD)

45
Q

what is the duration of the first trimester

A

weeks 0-13

46
Q

what is the duration of second trimester

A

weeks 14-27

47
Q

what is the duration of third trimester

A

weeks 28-40

48
Q

when is fetal heart beat detectable

A

by 9-10 weeks via doppler (often closer to 10-12 weeks)

49
Q

when is the uterus palpable in abdomen

A

by 12 weeks

50
Q

when is fetal movement felt by mom

A

18-20 weeks

51
Q

when does the fundus reach the umbilicus

A

20 weeks

52
Q

when is fetal movement observable

A

by examiner/partner after 24 weeks

53
Q

when does the fundus reach max height

A

36 weeks
at level of xiophoid process around 36 weeks

54
Q

how many visits are part of a normal pregnancy prenatal care

A

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
Q

what is Nullgravida

A

person who has never been pregnant and is not currently pregnant

56
Q

what is nulliparous (nullip)

A

person who has not given birth previously

57
Q

what is primigravida

A

person int heir first pregnancy
aka primip

58
Q

what is primiparous

A

person who has given birth once

59
Q

what is multigravida

A

person who has been pregnant more than once

60
Q

what is multiparous (multip)

A

person who has given birth more than once

61
Q

what is gravidity

A

number of pregnancies regardness of outcomes

62
Q

what is parity

A

number of births >20weeks gestation regardless of number of fetuses or outcomes

63
Q

what is term

A

deliveries >37 completed weeks

64
Q

what is preterm

A

deliveries from 20-37 weeks regardless of outcomes

65
Q

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

A

G3,P1111

66
Q

what are risk factors for gestational diabetes

A

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
Q

what are action items for every prenatal visit

A

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
Q

what are normal caloric requirements for pregancy

A

2200 - 2900calories per day

69
Q

what are prenatal risks/warning signs during first trimerster

A

spontaneous abortion (SAB), hyperemesis, toxic exposures

counsel - bleeding, severe pain, N/V/D, s/sx of infection

70
Q

what are prenatal risks/warning signs during 2nd trimester

A

insufficient cervix, genetic issues, preterm labor (PTL)

counsel- identified risks, confirm fetal movement (FM) felt at 18-20 weeks, PTL, contractions (CTX)

71
Q

what are prenatal risks/warning signs during 3rd trimester

A

intrauterine growth retardation (IUGR), PTL, decreased FM, preeclampsia/pregnancy induced hypertension (PIH)

72
Q

what occurs at the 12 week prenatal visi

A

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
Q

what occurs at the 18-20 week prenatal visit

A

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
Q

what occurs at the 24 week prenatal visit

A

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
Q

what occurs at 28 week prenatal visit

A

kick counts
lab studies: anemia, Test for GDM-OGTT
RH immune globulin if Rh negative

76
Q

what occurs at 27-36 week prenatal visit

A

Tdap administration to protect from pertussis
repeat testing for at risk STI
discuss group B strep screening and management

77
Q

what occurs at 32 week prenatal visit

A

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
Q

what occurs at 36 week prenatal visit

A

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
Q

how do you determine Leopolds maneuvers

A
  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
Q

what occurs at 38-40 week prenatal visit

A

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
Q

what occurs at 41 week prenatal visit

A

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)