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