PRENATAL SCREENING & DIAGNOSTIC TESTING

OVERVIEW
• Pregnant and expecting mothers have the opportunity to learn a lot about
their unborn child's health with today's genetic screening and diagnostic
tests. Prenatal genetic testing allows the expectant mother and her health
care team to provide the best health care for the baby.
• "One of the important distinctions to make is whether the test is for
screening or diagnosis," says Yale Medicine's Katherine Harper Campbell,
MD, MPH, medical director of the Yale Medicine's Maternal-Fetal
Medicine section.
• Screening tests check to see if your baby is more likely to have a health
condition, but they don’t tell you for sure whether your baby has a
condition.
• Diagnostic tests tell you whether your baby has a health condition. If a
screening test shows your baby is at high risk of a health condition, your
provider may recommend a diagnostic test to confirm the results.
• Some diagnostic tests may have some risks for your baby, such
as miscarriage. Miscarriage is when a baby dies in the womb before 20
weeks of pregnancy.
• Screening test results can help you decide whether you want to have a
diagnostic test. You may or may not want to know whether your baby has
a health condition. If you decide to have a diagnostic test, you can learn
more about your baby’s condition and how to care for your baby after he’s
born. You also can make plans to give birth in a hospital that can give your
baby special medical care.
Who Is Offered Testing?
• All pregnant women, regardless of age, have the option to undergo
prenatal testing. However, as women age, the chance of having a baby
with a chromosomal abnormality increases. So the age of the mother is the
most common reason for prenatal testing.
• Other reasons that a woman may be offered prenatal testing include:
▫ Family history or a previous child with a genetic condition
▫ Parents who are known carriers of a specific genetic condition
▫ Abnormal ultrasound findings
▫ Screening test results

• Any woman who desires more information about the developing fetus can
consider prenatal testing. The decision is an individual choice.
Types Of Tests
 What are Prenatal Screening Tests?
• “Prenatal screening tests” is a blanket term that covers a variety of testing your
doctor may recommend or you may choose to have during pregnancy.
• Some prenatal screening tests are done to determine whether a baby is likely to
have specific health conditions or chromosomal abnormalities, like Down
syndrome.
• Chances are, your doctor mentioned these screening tests at your very first
prenatal appointment, because most are done during the first and second
trimesters.
• This type of screening test can only provide your risk, or probability, that a
particular condition exists. It doesn’t guarantee that something will happen.
They’re usually noninvasive and optional, though recommended by most OBs.
• When the results are positive, further diagnostic tests — some that may be
more invasive — can provide more definitive answers for you and your
doctor.
• Other prenatal screening tests are routine procedures that look for health
issues that may affect you, your pregnancy, or your baby.
• One example is the glucose tolerance test, which checks for gestational
diabetes — which, by the way, is manageable.
• Pregnant people who have a higher risk of having a child with certain
conditions are usually offered additional screening tests. For example, if
you’ve lived in regions where tuberculosis is common, your doctor may
order a tuberculin (TB) skin test.
BASIC SCREENING TEST INCLUDES:

• These prenatal tests may be done several times during pregnancy:

• Urine tests. Urinalysis helps the doctor or midwife check for two

potentially dangerous pregnancy complications: high blood pressure

(preeclampsia) and gestational diabetes. Both are treatable, but can be

dangerous if they’re not identified.

• Initial blood work. At first prenatal visit, initial blood work is done,
which will be tested for conditions that could affect the pregnancy and
delivery. 
• Specifically, the provider will check for anemia, along with blood type,
hCG levels (a hormone that’s produced by the fetus), immunity to certain
diseases and Rh factor, which diagnoses Rh disease, another condition
that can be easily managed as long as the provider knows about it in
advance. 
• Pregnant women may also receive a screening for cystic fibrosis, Tay-
Sachs, sickle cell anemia, spinal muscular atrophy, thalassemia and
other genetic conditions, if they weren’t screened before conception.
• Pap smear. The midwife or doctor might do a Pap smear (or Pap test) at
first prenatal appointment to screen for abnormal cervical cells.
• They’ll also likely be screened for sexually transmitted infections (STIs)
including gonorrhea, syphilis, hepatitis B, HIV and chlamydia. 
• If the pregnant woman test positive for a bacterial infection, then doctor
will prescribe pregnancy-safe antibiotics for her and possibly her partner
— because if she give birth with an untreated infection, her baby is at risk
of dangerous infections too, including pneumonia.
• Genetic carrier screening. A carrier screening can reveal if pregnant
women have a gene for (or, are a “carrier” of) genetic conditions such as
cystic fibrosis or spinal muscular atrophy. Her doctor will likely take
blood or a swab of saliva from the inside of her cheek and send the sample
to a lab.
• The results will either be “positive” (meaning, she is a carrier for the
condition) or “negative” (meaning, she isn’t a carrier for the
condition). While the test can be done before she get pregnant, some
women choose to have the test done during pregnancy.  
 What is Prenatal Diagnostic Testing?
• Prenatal diagnosis or Prenatal testing is testing for diseases or conditions in
a fetus or embryo before it is born. The aim is to detect birth defects such
as neural tube defects, Down syndrome, chromosome abnormalities, genetic
diseases and other conditions. It can also be used to determine its sex
• Diagnostic prenatal testing can be by invasive or non-invasive methods. An
invasive method involves probes or needles being inserted into the placenta,
e.g. amniocentesis, which can be done from about 14 weeks gestation, and
usually up to about 20 weeks, and chorionic villus sampling, which can be
done earlier (between 9.5 and 12.5 weeks gestation) but which is slightly more
risky to the fetus. Non-invasive methods, called "screens", can only evaluate
risk of a condition and cannot determine 100% if the fetus has a condition.
• Non-invasive techniques include examinations of the woman's womb
through ultrasonography and maternal serum screens (i.e. Alpha-
fetoprotein). If an abnormality is indicated by a non-invasive procedure, a
more invasive technique may be employed to gather more information..
• Most often this is performed to test for birth defects. Common procedures
include amniocentesis, sonograms, nuchal translucency testing, or genetic
screening. The tests can be used to check for conditions such as Down
syndrome, spina bifida, cleft palate, Tay Sachs disease, sickle cell
anemia, thalassemia, cystic fibrosis, and fragile x syndrome. In some cases,
the tests are administered to determine if the fetus will be aborted.
 Reasons For Prenatal Diagnosis
• There are three purposes of prenatal diagnosis:

(1) to enable timely medical or surgical treatment of a condition before or

after birth,
(2) to give the parents the chance to abort a fetus with the diagnosed
condition, and
(3) to give parents the chance to "prepare" for a baby with a health problem
or disability, or for the likelihood of a stillbirth.
• Having this information in advance of the birth means that healthcare staff
can better prepare themselves and parents for the delivery of a child with a
health problem.
• Many expectant parents would like to know the sex of their baby before birth.
Methods include amniocentesis with karyotyping, and prenatal ultrasound.
• In some countries, health care providers are expected to withhold this
information from parents, while in other countries they are expected to give
this information
 Non-invasive methods
• Examination of the woman's uterus from outside the body.
• Ultrasound detection - Commonly dating scans (sometimes known
as booking scans) from 7 weeks to confirm pregnancy dates and look
for twins. The specialised nuchal scan at 11-13 weeks may be used to identify
higher risks of Downs syndrome. Later morphology scans from 18 weeks
may check for any abnormal development.
• Listening to the fetal heartbeat.
• External fetal monitoring, often known as a non-stress test
Less Invasive Methods
• Second trimester maternal serum screening (AFP screening,
triple screen, quad screen, or penta screen) can check levels
of alpha fetoprotein, β-hCG, inhibin-A, estriol, and h-hCG
(hyperglycosolated hCG) in the woman's serum.
• First trimester maternal serum screening can check levels of free
β-hCG, PAPP-A, intact or beta hCG, inhibin-A, or h-hCG in the
woman's serum, and combine these with the measurement
of nuchal translucency (NT). Some institutions also look for the
presence of a fetal nasalbone on the ultrasound.
• Integrated, Sequential, and Contingent screening tests use serum samples from
both first and second trimester, as well as the nuchal translucency measurement
to calculate risks.

• With Integrated screening, a report is only produced after both samples have
been analyzed.

• With Sequential screening, a first report is produced after the first trimester
sample has been submitted, and a final report after the second sample. With
Contingent screening, patients at very high or very low risks will get reports
after the first trimester sample has been submitted.

• Only patients with moderate risk will be asked to submit a second trimester

sample, after which they will receive a report combining information from both
serum samples and the NT measurement.
 More Invasive Methods
• Chorionic villus sampling - Involves getting a sample of the chorionic
villus and testing it. This can be done earlier than amniocentesis, but may
have a higher risk of miscarriage.
• Amniocentesis - This can be done once enough amniotic fluid has developed
to sample. Cells from the fetus will be floating in this fluid, and can be
separated and tested.
• Embroscopy and fetoscopy - These involve putting a probe into a women's
uterus to observe (with a video camera), or to sample blood or tissue from the
embryo or fetus.
First Trimester Genetic Screening &
Diagnostic Tests
• Starting around week 10, pregnant women can receive first
trimester screening and tests for certain chromosomal
conditions. If the screening results indicate that her baby may
have an abnormality, she can receive follow-up diagnostic
testing to confirm or eliminate the diagnosis.
• By opting for early screening and testing, she’ll have more
time to make medical decisions during her pregnancy and
after delivery. 
 ULTRASOUND
• An ultrasound uses sound waves to create an image of the baby in the
uterus.
• (also called first-trimester ultrasound). Your provider may use early
ultrasound to make sure that you’re pregnant or to date your pregnancy
so you know how far along in pregnancy (how many weeks) you are.
• The test is used to determine the size and position of the baby and find
any potential abnormalities in the structure of the baby’s growing bones
and organs.
 Nuchal translucency screening (NT).
• The nuchal translucency (NT) screening is an ultrasound that’s performed around
weeks 10 to 13. This routine test measures the nuchal fold, an area of fluid behind
the baby’s developing neck.
• Babies with increased fluid and swelling in this spot have a higher risk of
chromosome abnormalities, such as Down syndrome. 
• The hormonal levels drawn at the time of the NT can also indicate an elevated risk
of preeclampsia.
 Noninvasive prenatal testing (NIPT)
• NIPT (i.e. a noninvasive prenatal
screening, or NIPS) is a blood test that
analyzes DNA fragments that are
circulating in a woman’s blood (also
called cell-free DNA, or cfNDA).
• The test, which can be done around week
10 of pregnancy, can screen for certain
chromosomal abnormalities, including
Down Syndrome, trisomy 18 and trisomy
13.
EARLY BLOOD TESTS
• During the first trimester, your doctor can order two types of blood tests
called a sequential integrated screening test and a serum integrated
screening.

• They’re used to measure the levels of certain substances in your blood,

namely, pregnancy-associated plasma protein-A and a hormone called
human chorionic gonadotropin (hCG).

• Abnormal levels of either mean there’s a higher risk of a chromosome

abnormality.

• At your first prenatal visit, your blood may also be tested to see if you’re
immunized against rubella and to screen for syphilis, hepatitis B, and HIV.
Your blood will also likely be checked for anemia.
• A blood test will also be used to check your blood type and Rh factor, which
determines your Rh compatibility with your growing baby. You can be either
Rh-positive or Rh-negative.
• Most people are Rh-positive, but if you’re Rh-negative, your body will
produce antibodies that will affect any subsequent pregnancies.
• When there’s an Rh incompatibility, most women will be given a shot of Rh-
immune globulin at 28 weeks and again a few days after delivery.
• Incompatibility occurs if a woman is Rh-negative and her baby is Rh-positive.
If the woman is Rh-negative and her baby’s positive, she’ll need the shot. If
her baby is Rh-negative, she won’t.
• Note: There’s not a noninvasive way to determine your baby’s blood type
until after they’re born.
 Chorionic villus sampling (CVS)
• If an NIPT or NT shows that baby has a
higher than usual risk for certain
congenital conditions, the doctor might
recommend a diagnostic test called
a chorionic villus sampling (CVS).
• This test will take a small sample of the
placenta, which contains baby’s genes,
and can confirm or rule out that baby
has the chromosomal condition. CVS is
typically done between week 10 and
week 13 of pregnancy.
Second Trimester Screening & Diagnostic
Tests
 ULTRASOUND
• During the second trimester, a more
detailed ultrasound, which is often
called a fetal anatomy survey, is used to
evaluate the baby carefully from head to
toe for any developmental issues.
• While a second-trimester ultrasound
can’t rule out all potential issues with
your baby — that’s what the additional
screens described below can assist with
— it’s helpful for your OB to eyeball
baby’s body parts, and fun for you to
see those fingers and toes, too!
 BLOOD TESTS
• A quad marker screening test is a blood test conducted during the second
trimester. It can help your doctor learn if you’re increased risk of carrying
a baby with Down syndrome, neural tube defects, and abdominal wall
abnormalities. It measures four of the fetal proteins (thus, “quad”).
• A quad marker screening is typically offered if you start prenatal care too
late to receive either the serum integrated screening or the sequential
integrated screening.
• It has a lower detection rate for Down syndrome and other issues than a
sequential integrated screening test or serum integrated screening test.
 Glucose screening
• A glucose screening test checks for gestational diabetes, a condition that
can develop during pregnancy. It’s usually temporary and resolves after
delivery.
• This glucose screening test is pretty standard for everyone, whether you’re
considered high risk or not. And, note: You can develop gestational
diabetes even if you’ve not had diabetes before your pregnancy.
• Gestational diabetes can increase your potential need for a caesarean
delivery because babies of mothers with gestational diabetes are usually
born larger. Your baby may also have low blood sugar in the days
following delivery.
 Amniocentesis
• During amniocentesis, you’ll have amniotic fluid removed from your
uterus for testing. Amniotic fluid surrounds the baby during pregnancy. It
contains fetal cells with the same genetic makeup as the baby, as well as
various chemicals produced by the baby’s body.
• An amniocentesis tests for genetic abnormalities, such as Down syndrome
and spina bifida. A genetic amniocentesis is usually performed after week
15 of the pregnancy. 
• a prenatal screening test showed abnormal results
• you had a chromosomal abnormality during a previous pregnancy
• you’re 35 or older
• you have a family history of a specific genetic disorder
• you or your partner is a known carrier of a genetic disorder
Third Trimester Screening Tests
 Group B strep test:
•  Between your 35th and 37th weeks of pregnancy, the doctor will check
you for group B streptococcus (GBS) infection. GBS bacteria are found
naturally in the vaginas of many women but can cause serious infections in
newborns. This test involves swabbing the vagina and rectum.
• A woman whose test comes back positive must go to the hospital as soon
as labor begins so that intravenous (IV) antibiotics can be started to help
protect the baby from becoming infected.