Prenatal screening care Flashcards
What is the purpose of genetic evaluation
probability of petal abnormality
probability of complication from invasive fetal testing
important of knowing results
what are routine first trimester tests
pregnancy test, blood test, urine test
dating ultrasound
maternal blood serum screening
nuchal translucency screening
what are routine 2nd trimester tests
urine tests
fetal heart rate monitoring
glucose challenge screening
quad screening anomaly ultrasound
What are are routine 3rd trimester tests
urine test
fetal heart rate monitoring
group B strep test
baby kick count
what are the benefits of screening and diagnostic testings
planning for birth
planning for services after birth
pregnancy termination
what are the risks of screening and diagnostic testings
false positives
family stress
unnecessary invasive testing
damage to fetal tissue or pregnancy loss
what is identification of an asymptomatic disease, harmful condition or risk factor
screening
what gives the probability that the fetus will have a disorder (PPV and NPV)
prenatal screening test
what gives a definitive answer (provides a diagnosis)
diagnostic test
what are the two genetic fetal diagnostic testing
chronic villus sampling and amniocentesis
when do you go directly to a diagnostic test?
history of trisomy in prior pregnancy
major anomalies on fetus ultrasound
genetic abnormalities in mother or father - translocation, inversion, aneploidy
at what point is chorionic villus sampling done
between 10 and 13 weeks gestation: provides earlier results
biopsy of the placental tissue
What are the possible complications of chorionic villus sampling
errors due to maternal cell contamination (rare)
fetal loss (~0.2%)
transverse limb defects and oromandibular-limb hypogenesis (very rare)
When is amniocentesis completed
> 15 weeks gestation
offered to pregnant women >35 yo
what is given to Rh-negative unsensitized women when pregnant
Rho(D) immune globulin 300mcg
What are the possible complications of amniocentesis
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)
what is a fetal blood sample taken via percutaneous puncture of umbilical cord vein under US
percutaneous umbilical blood sampling
What is PGT
perimplantation genetic testing
prior to IVF implantation
what are the forms of PGT
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
What are risk factors of genetic disease
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
what populations have a higher rate of carriers for multiple genetic dorders
ashkenazi jewish
central and europe: germancy, france, poland, hungary, russia, ukraine, lithuania
What do we commonly screen for in pregnancy
CF
hemoglobinopathies
neural tube defects
trisomy 21
trisomy 18 (edwards)
trisomy 13 (patau)
spinal muscular atrophy
tay-sachs disease (ashkenazi jews)
how is CF diagnosed prenatally
requires invasive testing
chorionic villous sampling and amniocentesis
how are hemoglobinopathies diagnosed prenatally
requires invasive testing
chorionic villous sampling and amniocentesis
what are the tests used to screen for neural tube defects
Maternal serum alpha fetoprotein (MSAFP)
Transvaginal ultrasound (TVUS) - more sensitive, test of choice
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)
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
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
when are prenatal ultrasounds recommended
18-22 weeks
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
What is the Quad screen
alpha fetoprotein
uncongugated estriol
human chorionic gonadotropin
inhibin A
what defects can be found on targeted ultrasound
renal malformations
lethal forms of short-limbed skeletal dysplasias
gut malformations
diaphragmatic hernia
microcephaly
hydrocephalus
What to do with abnormal screening results?
referral to genetic counseling
offer invasive diagnostic testing (for conclusive answer)
what is NIPT
non-invasive prenatal testing
cell-free DNA or cfDNA
screens for: trisomy, 13,18,21
What are the phases of childbirth (parturition)
Quiescence
Activation
Stimulation
Involution
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
what are probably signs of pregnancy
enlargement of uterus
Hegars sign
chadwicks sign
goddells sign
piskacek’s sign
positive HCG tets
skin changes
what is hegars sign
softening of uterine isthmus
what is bluish or cyanotic appearance of cervix
chadwicks sign
what is piskacek’s sign
asymmetric buldge of soft prominance of uterus caused by placental develpment
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
when is hCG detectible in blood and urine
blood: 8 days after conception
urine 10 days after conception
peaks at 9-10 weeks gestation
how quickly does hCG levels increase
doubles every 48 hours the first few weeks of pregnancy
What is Naegele’s rule
(LMP - 3 months) + 1 year + 7 days - estimated due date (EDD)
what is the duration of the first trimester
weeks 0-13
what is the duration of second trimester
weeks 14-27
what is the duration of third trimester
weeks 28-40
when is fetal heart beat detectable
by 9-10 weeks via doppler (often closer to 10-12 weeks)
when is the uterus palpable in abdomen
by 12 weeks
when is fetal movement felt by mom
18-20 weeks
when does the fundus reach the umbilicus
20 weeks
when is fetal movement observable
by examiner/partner after 24 weeks
when does the fundus reach max height
36 weeks
at level of xiophoid process around 36 weeks
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
what is Nullgravida
person who has never been pregnant and is not currently pregnant
what is nulliparous (nullip)
person who has not given birth previously
what is primigravida
person int heir first pregnancy
aka primip
what is primiparous
person who has given birth once
what is multigravida
person who has been pregnant more than once
what is multiparous (multip)
person who has given birth more than once
what is gravidity
number of pregnancies regardness of outcomes
what is parity
number of births >20weeks gestation regardless of number of fetuses or outcomes
what is term
deliveries >37 completed weeks
what is preterm
deliveries from 20-37 weeks regardless of outcomes
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
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
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
what are normal caloric requirements for pregancy
2200 - 2900calories per day
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
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)
what are prenatal risks/warning signs during 3rd trimester
intrauterine growth retardation (IUGR), PTL, decreased FM, preeclampsia/pregnancy induced hypertension (PIH)
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
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
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
what occurs at 28 week prenatal visit
kick counts
lab studies: anemia, Test for GDM-OGTT
RH immune globulin if Rh negative
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
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
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
how do you determine Leopolds maneuvers
- delineates fundal height
- hands on either side of uterus to determine fetal lie
- pawlicks grip - both hands on upper and lower poles of fetus to determine presentation - allows estimation of fetal size
- hands pointing to moms feet, determines whether or not presenting part of engaged in pelvis
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
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)
