Screening and Diagnostic Tests

HOLY NAME UNIVERSITY
THE PREMIER CATHOLIC UNIVERSITY IN THE PROVINCE OF BOHOL

Witness To The Word
College of Health Sciences – Nursing Department
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Copyright ©2020 Email add: dcasquejo@hnu.edu.ph
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First trimester prenatal screening tests
First trimester screening is a combination of fetal ultrasound and maternal blood testing. It can help
find out the risk that the fetus has certain birth defects. Screening tests may be used alone or with
other tests.
First trimester screening has 3 parts.
A.Ultrasound test for fetal nuchal translucency (NT)

Nuchal translucency screening uses an ultrasound test to check the area at the back of the fetal
neck for extra fluid or thickening.

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Two maternal serum (blood) tests
These tests measure 2 substances found in the blood of all pregnant women:
• Pregnancy-associated plasma protein screening (PAPP-A). This is a protein made by the

placenta in early pregnancy. Abnormal levels are linked to a higher risk for chromosome problems.
• Human chorionic gonadotropin (hCG). This is a hormone made by the placenta in early
pregnancy. Abnormal levels are linked to a higher risk for chromosome problems.
When used together, these tests have a greater ability to find out if the fetus might have a genetic
birth defect such as Down syndrome (trisomy 21) and trisomy 18.
If the results of these tests are abnormal, your healthcare provider will suggest genetic counseling.
You may need more testing. That may include chorionic villus sampling, amniocentesis, cell-free
fetal DNA, or other ultrasounds.
dcasquejo@hnu.edu.ph
Second trimester prenatal screening tests

Second trimester prenatal screening may
include several blood tests. These are
called multiple markers. They give
information about a woman's risk of
having a baby with certain genetic
conditions or birth defects. Screening is
often done by taking a sample of the
woman’s blood between the 15th and
20th weeks of pregnancy. The 16th to
18th is ideal.
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The multiple markers are listed below.
Alpha-fetoprotein screening (AFP)

This blood test measures the level of alpha-fetoprotein in your blood during pregnancy. AFP is a protein
normally made by the fetal liver. It is in the fluid around the fetus (amniotic fluid) and crosses the
placenta into your blood. The AFP blood test is also called MSAFP (maternal serum AFP).
Abnormal levels of AFP may be a sign of:
•Open neural tube defects (ONTD) such as spina bifida
•Down syndrome
•Other chromosome problems
•Problems in the abdominal wall of the fetus
•Twins. More than one fetus is making the protein.
•An incorrect due date. The levels of AFP vary throughout pregnancy.

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Other markers are:

• hCG. This is human chorionic gonadotropin hormone. It is made by the
placenta.
• Estriol. This is a hormone made by the placenta.
• Inhibin. This is a hormone made by the placenta.
Abnormal results of AFP and other markers may mean you need more testing.
An ultrasound is often done to confirm the dates of the pregnancy. It also looks
at the fetal spine and other body parts for problems. You may need an
amniocentesis for accurate diagnosis.

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What is an amniocentesis?
An amniocentesis is a test that takes a small sample
of the amniotic fluid. It is done to diagnose
chromosome problems and open neural tube
defects (ONTDs) such as spina bifida. The test can
also look for other genetic problems and disorders if
you have a family history of them. These other
results also depend on the lab doing the testing. An
amniocentesis is generally offered to women
between the 15th and 20th weeks of pregnancy who
are at higher risk for chromosome problems. This
includes women who have had an abnormal
maternal blood screening test. The test may have
indicated a higher risk for a chromosome problem or
neural tube defect.

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How is an amniocentesis done?
An amniocentesis involves putting a long, thin needle through your abdomen into the
amniotic sac. The healthcare provider withdraws a small sample of the amniotic fluid. The
amniotic fluid has cells shed by the fetus,. These cells have genetic information. The
specific details of each test vary slightly, but an amniocentesis often follows this process:
•The healthcare team cleans the abdomen with an antiseptic.

•The healthcare provider may use a local anesthetic to numb the skin.
•The provider uses ultrasound to help guide a hollow needle into the amniotic sac.
•The provider withdraws a small sample of fluid to be sent to a lab.

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After the test, the woman should avoid any strenuous activity for 24 hours. She may feel
some cramping during or after the amniocentesis.
If the woman is carrying twins or other multiples, she will need sampling from each
amniotic sac to study each baby.
The fluid sample is sent to a genetics lab so that the cells can grow and be tested. AFP is
also measured to rule out an open neural tube defect such as spina bifida. AFP is a protein
made by the fetus and is in the fluid.
Results are often available in 10 days to 2 weeks, depending on the lab.

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What is a chorionic villus sampling (CVS)?

Chorionic villus sampling (CVS) is a prenatal test. It
involves taking a sample of some of the placental
tissue. This tissue often has the same genetic
material as the fetus. It can be tested for
chromosome problems and some other genetic
problems. The test can also look for other genetic
problems and disorders if you have a family history
of them. These other results also depend on the lab
doing the testing. Unlike amniocentesis, CVS does
not give information on neural tube defects such as
spina bifida. For this reason, women who have
CVS also need a follow-up blood test between 16
and 18 weeks of their pregnancy to screen for
neural tube defects.

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How is CVS done?
CVS may be offered if the woman is at higher risk for chromosome problems. She may also be
offered it if she has a family history of a genetic problem that is testable from the placental tissue.
CVS is usually done between the 10th and 13th weeks of pregnancy. The exact method for CVS
can vary, but the procedure involves putting a small tube (catheter) through the vagina and into
the cervix. It usually follows this process:
• The healthcare provider uses ultrasound to guide the catheter into place near the placenta.
• The provider removes tissue using a syringe on the other end of the catheter.
• For a trans-abdominal CVS, the provider puts a needle through the abdomen and into the
uterus to take a sample of cells from the placenta.
• The woman may feel some cramping during and after the CVS procedure.

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If the woman is carrying twins or other multiples, she often will need sampling from each
placenta. But CVS is not always advised for multiples because the procedure is complicated
and the placentas may not be in a good position to get a sample.
The tissue samples are sent to a genetic lab to grow and be tested. Results are often
available in 10 days to 2 weeks, depending on the lab.
Some women may not be candidates for CVS, or they may not get results that are 100%
accurate. They may need a follow-up amniocentesis. In some cases an active vaginal
infection such as herpes or gonorrhea will prohibit the procedure. Other times the healthcare
provider takes a sample that does not have enough tissue to grow in the lab. That may
cause incomplete or inconclusive results.

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What is fetal monitoring?
During late pregnancy and during labor, the

healthcare provider may want to watch the fetal heart
rate and other functions. Fetal heart rate monitoring is
a way of checking the rate and rhythm of the fetal
heartbeat. The average fetal heart rate is between
110 and 160 beats per minute. It may change as the
fetus responds to conditions in the uterus. An
abnormal fetal heart rate or pattern may mean that
the fetus is not getting enough oxygen or there are
other problems. It also may mean that an emergency
or cesarean delivery is needed.

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How is fetal monitoring done?
The most basic type of fetal heart rate monitor is to use a type of stethoscope called a fetoscope. Another type
of monitoring is with a hand-held Doppler device. This is often used during prenatal visits to count the fetal heart
rate. During labor, continuous electronic fetal monitoring is often used. The specific details may vary slightly, but
electronic fetal monitoring often follows this process:
• The healthcare provider puts gel on the abdomen to help the ultrasound transducer work properly.
• The provider attaches the ultrasound transducer to the abdomen with straps and sends the fetal heartbeat to a
recorder. The fetal heart rate is displayed on a screen and may be printed onto special paper.
• During contractions, a monitoring device (external tocodynamometer) is placed over the top of the uterus with
a belt. This device can record the patterns of contractions.
Sometimes, internal fetal monitoring is needed for a more accurate reading of the fetal heart rate. This
monitoring can be done when birth is close. The amniotic sac must be broken and the cervix must be partially
dilated to do it. Internal fetal monitoring involves putting an electrode through the dilated cervix. The electrode is
attached to the scalp of the fetus.

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What are a glucose challenge and a glucose

tolerance tests?
The first 1-hour test is a glucose challenge test. If the

results are abnormal, a glucose tolerance test is
done.
A glucose tolerance test is often done in weeks 24 to
28 of pregnancy. It measures levels of sugar
(glucose) in the blood. Abnormal glucose levels may
be a sign of gestational diabetes.

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How is a glucose tolerance test done?
The glucose tolerance test is done if the woman has an elevated 1-hour glucose challenge test.
The specific details may vary slightly, but a glucose tolerance test often follows this process:
• The woman may be asked to drink only water on the day of the test.
• The healthcare provider will draw a fasting sample of blood from a vein.
• The woman will be given a special glucose solution to drink.
• The provider will draw blood several times over several hours to measure the glucose levels
in the woman’s body.

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What is a group B strep culture?
Group B streptococcus (GBS) are bacteria found in the lower genital tract of about 1 in 4 women. GBS
infection often causes no problems in women before pregnancy. But it can cause serious illness in the
mother during pregnancy. GBS may cause chorioamnionitis. This is a severe infection of the placental
tissues. It can also cause postpartum infection. Urinary tract infections caused by GBS can lead to preterm
labor and birth, or pyelonephritis and sepsis.
GBS is the most common cause of life-threatening infections in newborns, including pneumonia and
meningitis. Newborn babies get the infection during pregnancy or from the mother's genital tract during labor
and birth.
The CDC advises that all pregnant women be screened for vaginal and rectal group B strep between 35 to
37 weeks gestation. If she has certain risk factors or a positive result, she should be treated with antibiotics.
This will lower the risk of passing GBS to her baby. Babies whose mothers get antibiotics for a positive GBS
test are 20 times less likely to develop the disease than those whose mothers don't get treatment.

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What is an ultrasound?
An ultrasound scan is a test that uses
high-frequency sound waves to make
pictures of the internal organs. A
screening ultrasound is sometimes done
during a pregnancy to check normal
fetal growth and make sure of the due
date. Ultrasounds may be done at
various times throughout pregnancy for
many reasons.

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In the first trimester
•To find out the due date. This is the most

accurate way of finding the due date.
•To find out the number of fetuses and see the
placentas
•To diagnose an ectopic pregnancy or a
miscarriage
•To look at the uterus and other pelvic
anatomy
•In some cases, to find fetal problems

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Mid-trimester (sometimes called the 18- to 20-week

scan)
•To confirm the due date. A due date set in the first trimester
is rarely changed.
•To find out the number of fetuses and look at the placentas
•To help with prenatal tests such as an amniocentesis
•To look at the fetal anatomy to see if there are any
problems
•To check the amount of amniotic fluid
•To look at blood flow patterns
•To watch fetal behavior and activity
•To look at the placenta
•To measure the length of the cervix
•To check fetal growth

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Third trimester
• To check fetal growth

• To check the amount of amniotic fluid
• To complete a biophysical profile
• To find out the position of a fetus
• To check the placenta

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How is an ultrasound scan done?

The specific details may vary slightly, but ultrasounds often
follow the same process. Two types of ultrasounds can be
done during pregnancy:
•Abdominal ultrasound. In an abdominal ultrasound, the
healthcare provider puts gel on your abdomen. The
ultrasound transducer glides over the gel to create the
image.
•Transvaginal ultrasound. In a transvaginal ultrasound,
the provider uses a smaller ultrasound transducer. He or
she puts the transducer into the vagina and rests it against
the back of the vagina to create an image. A transvaginal
ultrasound makes a sharper image. It is often used in early
pregnancy.

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What is genetic carrier screening?
Many genetic problems can be diagnosed before birth. The healthcare provider or midwife
may advise genetic testing during the pregnancy if the woman or her partner has a family
history of genetic disorders or if she has had a fetus or baby with a genetic problem.
Examples of genetic disorders that are commonly screened for include:
• Cystic fibrosis
• Spinal muscular dystrophy
• Fragile X
• Thalassemia
• Sickle cell anemia
• Tay-Sachs disease

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OTHER STANDARD LABORATORY EXAMS DURING PREGNANCY
Standard Tests included in the antenatal screen include:
• Complete Blood Count
A complete blood count (CBC) - gives information on a number of

hematological parameters, but generally in pregnancy the most useful are the
hemoglobin, platelets and the white blood cell count. Most laboratories will
provide pregnancy adjusted reference ranges to enable easier interpretation.
Very low or high hemoglobin levels are associated with increase fetal risk.
Gestational age should be taken into account when assessing hemoglobin, as
levels decrease during pregnancy due to hemo dilution caused by increase
plasma volume.
Iron Deficiency Anemia is the most frequent hematological concern during

pregnancy.
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• Changes in platelet levels are frequently seen

during pregnancy. A decrease in platelet is more
common than an increase. Abnormally high or low
reading should be discuss with a hematologist.
• The total white cell count will frequently be

elevated in pregnancy due to increased numbers
of neutrophils. With if However, this neutrophilia is
not usually associated with infection or
inflammation. Therefore the absolute count of
each cell type is more useful than the total white
cell count.

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• Hepatitis B serology – Up to 85% of infants born to

mothers infected with hepatitis B will become carriers
and will be more likely to develop chronic liver disease,
including cirrhosis, liver failure or liver cancer. This can
be prevented by administration of the hepatiti B
vaccine and immunoglobulin to the infant at birth,
therefore screening is important.
• HIV screening – All pregnant women should be

screened for HIV. Women who are HIV positive can be
given treatment to reduce the risk of being transmitted
to their infant. Interventions to reduce mother-to-child
transmission of HIV include antiretroviral therapy,
elective caesarean section delivery and the avoidance
of breastfeeding.

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• Why is a URINE ANALYSIS important during pregnancy?
A urine test is used to assess bladder or kidney infections,

diabetes, dehydration, and Preeclampsia by screening for high
levels od sugars, proteins, ketones, and bacteria.
• High levels of sugars may suggest Gestational Diabetes
which may develop around the 20thweek of pregnancy.
• High levels of protein may suggest possible Urinary tract
infection or kidney disease.
• Preeclampsia may be a concern of higher levels of protein
are found later in pregnancy, combined with high blood
pressure.

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TEST YOUR SELF

What Diagnostic Exam should a pregnant woman undergo for the following condition?
1. A primigravida who wants to know her expected date of delivery.
2. A gravida 4 woman who’s Fasting Blood Sugar result was high at 25 weeks of
pregnancy.
3. A pregnant couple who has a family history of Cystic Fibrosis.
4. A woman in her late 40’s who got pregnant and wants to find out whether her baby has
chromosomal problems or neural tube defects.
5. A primigravida who wants to know the gender of their future baby.
6. A woman on her third trimester and wants to check the rate and rhythm of her fetal
heartbeat.
7. A woman on her 9th month of pregnancy and wants to find out the position of her fetus
prior to delivery.
8. A primigravida woman who has history of urinary tract infection.
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ANSWERS:
1. ULTRASOUND 5. ULTRASOUND
2. OGCT/OGTT 6.FETAL SCREENING
3. GENETIC SCREENING 7. ULTRASOUND
4. AMNIOCENTESIS 8. URINARY ANALYSIS

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HOLY NAME UNIVERSITY

THE PREMIER CATHOLIC UNIVERSITY IN THE PROVINCE OF BOHOL

College of Health Sciences – Nursing Department

FAIR USE NOTICE AND DISCLAIMER

This PowerPoint presentation contains

College of Health Sciences – Nursing Department

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

First trimester prenatal screening tests

First trimester screening has 3 parts.

A.Ultrasound test for fetal nuchal translucency (NT)

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Two maternal serum (blood) tests

• Pregnancy-associated plasma protein screening (PAPP-A). This is a protein made by the

Second trimester prenatal screening tests

Trailblazing Excellence in Educating Servant Leaders

College of Health Sciences – Nursing Department

The multiple markers are listed below.

Alpha-fetoprotein screening (AFP)

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Other markers are:

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

How is an amniocentesis done?

•The healthcare team cleans the abdomen with an antiseptic.

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

What is a chorionic villus sampling (CVS)?

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

How is CVS done?

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

What is fetal monitoring?

During late pregnancy and during labor, the

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

How is fetal monitoring done?

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

What are a glucose challenge and a glucose

The first 1-hour test is a glucose challenge test. If the

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

How is a glucose tolerance test done?

Copyright ©2020 Email add: dcasquejo@hnu.edu.ph

College of Health Sciences – Nursing Department

What is a group B strep culture?