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What is the primary objective of prenatal screening and diagnosis?
To detect genetic disorders and/or abnormalities that could affect the woman, the fetus, and the newborn.
Screening
Detects and identifies individuals who are at RISK for abnormalities or diseases. Detects congenital abnormalities
What procedures do we use to screen? (5)
Drawing blood
First trimester screening
Triple screen
Quadruplet screen
Cell free DNA screen
What is considered a combined single screening test?
A Integrated and sequential screening
What is one limitation of using a single screening test?
Risk for false-negative and false-positive result
Diagnostic
Most precise test for a given condition performed after a screen test in order to provide a diagnostic
what are the 3 diagnostic procedures?
Chorionic Villius sampling
Amniocentesis
preimplantation genetic diagnosis
Ultrasound
High frequency sound waves that obtain real time images of maternal structures, placenta, amniotic fluid, and fetus during the 3 trimesters. Also used with diagnostic testing
What kind of ultrasounds are there?
2D, 3D, 4D
2D ultrasound
An ultrasound where sound waves bounce off organs/fluids. Flat picture of image
3D ultrasound
An ultrasound that can get height, width, depth of structure, can identify abnormalities
4D ultrasound
An ultrasound that can stream live video images
Non-medical ultrasound
An ultrasound that isnt necessary
which ultrasound is primarily for gender identification
3D and 4D ultrasound
What routes can an ultrasound be given?
Transabdominally and Transvaginally
what requirement should be done in the first trimester to receive a ultrasound for best results?
The bladder must be full
what are the three categories of an ultrasound
Standard
Limited
Specialized
Standard Ultrasound
An ultrasound that is 2D, Looks at anatomy, biometry, fetus, cardiac activity
limited ultrasound
An ultrasound that Looks for a specific problem or concern that requires further evaluation
Specialized Ultrasound
An ultrasound that looks at a specific structure of organ system
First trimester ultrasound
An ultrasound that confirms date/gestational age, # of fetuses, abnormalities, and location of fetus.
What weeks can an embryo be seen in an ultrasound
5-6 weeks after LMP
Where is the ultrasound placed during the first trimester?
Placed in lithomy position, transvaginally, takes about 10-15 mins
Where is the ultrasound placed during the second or third trimester?
Transabdominally because uterus is out of pelvis
Seond/third trimester ultrasound
Ultrasound that confirms viability, anatomy, gestational age, placental location, fetal presentation, biophysical poifle, fetal growth, amniotic fluid
Gestation age is less accurate when?
After 1 trimester.
what are 2 ways to determine gestational age?
1. Calculating fetus head, abdomen, and length measurements
2. 3 Ultrasounds taken 2 weeks apart and compare to standard.
What is the procedure of a second/third trimester ultrasound?
Supine on bed/table
Head and knees supported
Warm transmission gel
Wedge on either side of hip to provide comfort
What does a 1st trimester screening screen for?
Trisomy 21 and trisomy 18
Nuchal translucency screening (1st trimester)
a special ultrasound test of the fetus to screen for the risk of Down Syndrome and other birth defects. Fluid-filled space measured at the back of the fetal neck
hCG (human chorionic gonadotropin)
pregnancy hormone, produced by embyro, peaks at 8-10 weeks
Nasal bone assessment
An assessment that detects trisomy 21.
Midace hypoplasia and flattered nose
11 to 14 weeks
When is cell free fetal DNA found?
In maternal serum 5-7 weeks
What does cell free fetal DNA target
Trisomy 21, 18, 13, and sex chromosomes
What is the limitation of cell free fetal dna?
Cant distinguish between fetal and maternal DNA
Who was cell free fetal dna designed for?
High Risk Patients
multiple marker screening
Screen during 2nd/3rd trimester that resports womans risk for triosomy 21, 18, and open NTDs.
When can you do a multiple marker screening?
15-22 weeks
chorionic villus sampling (CVS)
A technique for diagnosing genetic and congenital defects in a fetus by removing and analyzing a sample of the fetal portion of the placenta.
When is a CVS done and how can it be done?
10-12 weeks, transcervical or transabdominally
Who is CVS done for?
people with KNOWN fetal abnormalities on ultrasound or with history of chromosome abnormalities
Amniocentesis
A technique of prenatal diagnosis in which amniotic fluid, obtained by aspiration from a needle inserted into the uterus, is analyzed to detect certain genetic and congenital defects in the fetus.
What else does an amniocentesis determine?
fetal lung maturity
when can amniocentesis be done?
15-20 weeks
what is a concern with amniocentesis?
Pregnancy loss
When does results of an amniocentesis occur?
10-14 days
when is a precutaneous umbilical blood sampling performed?
after 18 weeks
Precutaneous Umbilical Blood Sampling
Aspiration of fetal blood from the umbilical cord.
What does a PUBS assess for?
Fetal Anemia, can give transfusion via cord based on hematocrit
Who Should Be Offered Prenatal Screening?
Women 35 years or older
Abnormal ultrasound findings
Diabetes
Hypertension
Obesity
Substance abuse
When is antepartum fetal surveillance initiated ?
24-32 weeks for high risk pregancies
Fetal movement counting
A fetal surveillance method that measures fetal well being and conservation of oxygen consumption
Count to 10 method
A method to determine fetal movement.
Rest in quiet location
Count kicks/rolls
Count to 10: 10 distinct movements in a 1 to 2 hour period =
nonhypoxic
what should you do if a woman cannot find movements due to obesity or any other circumstance?
Assist with abdominal palpation
When does fetal movement peak?
9pm-1am because a fall of glucose level
Nonstress test (NST)
An antepartum evaluation of fetal well being performed during the third trimester. A noninvasive test that monitors the FHRto fetal movement. Risk for uteroplacental insufficiency
What is the procedure of NST?
Semifowlers
Transducer applied to abdomen
Let fetus be exposed to sound
Let patient have an empty bladder
Why do we want the patient to be in semi fowlers position during NST
Reduce the risk for aortocaval compression
Reactive/Reassuring NST interpretation
2 or more FHR accelerations 15 beats x 15 seconds within 20 mins
Nonreactive/nonrecurring NST interpretation
Less than 2 accelerations within 40 mins
Deceleration that persists for 1 mins or longer =
C-section or still birth
What to do if continuously see deceleration?
Monitor for extended period
Contraction stress test
.a stress test used to evaluate the ability of the fetus to tolerate the stress of labor and delivery. Uses oxytocin or nipple stimulation
Abnormal CST
Late decelerations, hypoxemia
Negative CST results
No late decels
Postive CST result
Late decels, min of 50% of contractions
Equivocal-suspicious CST
Intermittent or variable late decels
equivocal CST result
Decels with contractions that are every 2 mins, last longer than 90 seconds
unsatisfactory CST
Fewer than 3 contractions in 10 mins or tracing could not be determined
Biophysical Profile (BPP)
Method for evaluating fetal status during the antepartum period based on five variables originating with the fetus: fetal heart rate, breathing movements, gross body movements, muscle tone, and amniotic fluid volume.
Short term markers: BBP
FHR, breathing, movement, tone
Long term: BBP
Amniotic fluid amount
when does fetal tone develop?
7 to 8 weeks
When does fetal movement begin
9 weeks
when does breathing begin?
10 weeks, more apparent 19-20 weeks
Amniotic fluid production begins?
10 weeks
How is BBP evaluated?
each area is scored as a 2, which is normal or a 0 for abnormal
what is a perfect BBP score
8 to 10