If my AFP+ Quad Test is screen negative, does
that mean that my baby will be normal?
A “screen negative” result means that your risk for a
child with a neural tube defect is 1 in 1000 or less. It also
means that your risk for a child with Down syndrome is
less than that of a 35-year-old woman.
It is never possible to be sure that your baby is going to
be normal. The AFP+Quad Test will allow us to identify
at least 5 out of 6 cases of open spina bifida and almost
all cases of anencephaly. It can also lead to the diagnosis of about 8 out of every 10 cases of Down syndrome
and Trisomy 18. Remember, a screening test can never
completely rule out the possibility of an open neural tube
defect, Down syndrome or Trisomy 18. There are also
many other birth defects that cannot be identified with this
test.
What are the advantages of having the AFP+
Quad Test?
The test may give you and your healthcare provider
important information about your pregnancy and your developing baby. Twins may be discovered or your expected
date of delivery may be corrected so your prenatal care
and visits can be adjusted accordingly.
174 Mineola Boulevard • Suite #1
Mineola, New York 11501-2513
Tel: 516-320-6370
Fax: 516-248-4436
[email protected]
The information included in this pamphlet is not
intended as a substitute for personal medical advice.
Specific situations always require a personal
consultation with your healthcare provider.
Copyright 2008
All rights reserved.
LENETIX® Medical Screening Laboratory, Inc.
Further information and support are available through groups such as
your local Down Syndrome Society and Spina Bifida Association as
listed below:
March of Dimes www.marchofdimes.com
National Down Syndrome Society www.ndss.org
National Association for Down Syndrome www.nads.org
Smith-Lemli-Opitz Syndrome www.smithlemliopitz.org
Spina Bifida Association www.sbaa.org
Trisomy 18 www.trisomy.org
AFP+QUAD INFORMED CONSENT
I have read and understand the information
in this pamphlet regarding screening for the
AFP+QUAD Test.
Yes, I want to have the AFP+QUAD Test.
No, I do not want to have the AFP+QUAD Test.
Patient Name:
___________________________________________
Patient Signature:
Date:
__________________________________
____________________ IMPORTANT: Retain Copy in Patient File
Information for
Patients
Second Trimester
Risk Assessement for
Down Syndrome and
Open Neural Tube Defects
If your baby is found to have a serious birth defect, you
can receive professional counseling about how your
child’s physical and mental development may be affected.
The individual capabilities and potential of children with
birth defects are considerations which you may wish
to discuss with your genetic counselor or with other
healthcare providers. Other options such as adoption and
termination of pregnancy may also be discussed.


The
AFP+QUAD
Test
www.lenetix.com
afp+quad040308
AFP+QUAD Test
Commonly Asked Questions
What is the AFP+ Quad Test?
It is a maternal serum test done between the 15th and
22th week of pregnancy that allows us to measure
certain substances that come from the developing
fetus and placenta and are present in the mother’s
serum. The substances that we measure are called
alpha-fetoprotein (AFP), total βhCG, estriol, and
inhibin-A. By finding out what the levels of these
substances are in your serum, we can learn certain
things about your developing baby.
What can the AFP+ Quad Test tell me about my
pregnancy?
It can tell you whether you are at high risk for having a
baby with either an open neural tube defect, Down
syndrome or Trisomy 18. Ultimately, about one in
twelve patients will have a “screen positive” AFP+
Quad Test result. If your test result is “screen positive”
it does not necessarily mean that your baby has one of
these disorders, but it does mean that your doctor will
suggest some additional testing.
What are neural tube defects (ontd)?
Neural tube defects are a group of birth defects which
include open spina bifida and anencephaly. One or
two babies out of every 1000 is born with a neural tube
defect.
Open spina bifida is an incomplete closure of the
spine. It varies in severity depending on where it’s
located on the spine and how big the opening is.
Surgery to close the opening is usually performed
shortly after birth and additional surgery is often
necessary later in infancy and childhood. Open spina
bifida usually causes some amount of paralysis from
the waist down and interferes with bowel and bladder
control. It often leads to a condition called hydrocephalus (water on the brain) and can sometimes cause
mental retardation. Almost one third of babies born
with open spina bifida will not survive past age five.
Babies with anencephaly have a large part of the skull
missing and the brain is not properly formed. They
always die before or very soon after they are born.
The level of AFP in the mother’s serum tends to be
elevated when there is a pregnancy affected by an
open neural tube defect. About 90% of all pregnancies
with open neural tube defects will be identified through
AFP+Quad Testing. Closed neural tube defects (when
the spinal opening is covered with skin or thick tissue)
will not be picked up by AFP testing.
LENETIX® MEDICAL SCREENING LABORATORY, INC. - www.lenetix.com
What is Down syndrome?
Down syndrome is a common birth defect occurring
in about one in every 700 babies. It is a disorder in
which an extra chromosome (the number 21
chromosome) is present in the cells of the
developing fetus from the time of conception.
Down syndrome usually occurs unexpectedly and
about 98% of the time is not inherited. Although
Down syndrome occurs more frequently as mothers
get older, about 75% of babies with Down syndrome
are born to women who are younger than 35.
Down syndrome is always associated with mental
retardation, often in the mild to moderate range.
Children with Down syndrome have variable but
predictable physical characteristics. About 50%
have medical problems such as heart defects. Often
surgery can correct these defects.
The levels of AFP and estriol in the mother’s serum
tend to be low while the levels of total β-hCG and
inhibin-A tend to be elevated in pregnancies
affected by Down syndrome. Overall, approximately
80% of all pregnancies with Down syndrome will be
identified through the AFP+Quad Test. However,
detection rates vary with maternal age, ranging
from 70% in women under 35 to more than 90% in
women 35 and older.
Can other abnormalities be identified?
Yes. The risk of two other disorders can be
estimated. One is Trisomy 18, a rare and usually
fatal disorder caused by the presence of an extra
number 18 chromosome in the cells of the developing baby. The risk of Trisomy 18 can be estimated
using AFP, uE3 and total βhCG, and is reported
only when the risk is high. The second is called
Smith-Lemli-Opitz syndrome, a genetic disorder
caused by an error in the synthesis of cholesterol.
Smith-Lemli-Opitz syndrome is associated with
many problems in the developing baby, most
important are mental retardation and poor growth.
The risk of Smith-Lemli-Opitz syndrome can also
be estimated using AFP, uE3 and total βhCG, is
reported only when risk is high.
Why do you take age into account?
Any woman can have a baby with Down syndrome
but the chance of this happening increases as a
woman gets older. We use age as one of the
factors when working out your risk of pregnancy
with Down syndrome. It means that an older woman
is more likely to have a result in the higher risk
groups (screen positive) and be offered a diagnostic
test.
174 Mineola Boulevard • Suite #1
Mineola, New York 11501-2513
Tel: 516-320-6370 • [email protected]
What does it mean if my AFP+ Quad Test result is
screen positive?
A positive AFP+Quad Test means that you are in a higher risk group for having a baby with an open neural tube
defect or a chromosomal abnormality. However, it does
not prove by itself that there is anything wrong with the
pregnancy. In fact, only a small number of women with
screen positive results will have an abnormal baby. If
you have a “screen positive” result, you should consider
specific counseling to discuss further testing.
What are the tests that will be offered if my AFP+
Quad Test is screen positive?
It depends on your particular result. In most cases,
after counseling, an ultrasound study (sonogram) will
be recommended. Depending on your AFP+Quad Test
and the results of the sonogram, an amniocentesis or
further diagnostic ultrasound may be recommended.
What is ultrasound and what will it show?
An ultrasound machine uses sound waves to look
at the developing baby. One of the things it can do is
check fetal age. Many women will have a “screen
positive” AFP+Quad Test result because the dates of
their pregnancies have been misjudged. When this
date is adjusted, the test result may become “screen
negative”. Occasionally twins will be discovered and
will explain the “screen positive” result.
If the gestational age is correct and you are not
carrying twins, either amniocentesis or level II
sonography may be suggested. Level II sonography is
a detailed examination of the fetus. It cannot be used
to diagnose Down syndrome or Trisomy 18, but often
can identify spina bifida and other fetal abnormalities.
What is amniocentesis and what will it show?
Amniocentesis is a procedure in which the doctor
obtains a small sample of fluid that surrounds the
developing fetus. The sample is then sent to the
laboratory for testing. This fluid sample can be used to
diagnose both chromosomal problems such as Down
syndrome and Trisomy 18, as well as open neural
tube defects such as spina bifida. Amniocentesis is an
invasive procedure, which means that there is a small
risk of miscarriage (less than 1 in 200) associated with
it. Results of the test for Down syndrome and Trisomy
18 will take about 7-14 days. Results of the test for
spina bifida will take about 2-5 days.
What happens if a birth defect is discovered
through the AFP+ Quad Test ?
Your healthcare provider and/or genetic counselor will
be available to discuss your baby’s diagnosis in detail
and options available to you. One option would be to
continue the pregnancy and make arrangements for appropriate medical services at and after delivery. Other
options such as adoption and termination of pregnancy
will be discussed with you by your healthcare provider.
Is there a test offered at a later date than the
Combined Test?
Yes. The Integrated 190 Test is similar to the
Combined Test in that it includes Nuchal Translucency testing and PAPP-A blood chemistries
in the first trimester, but because the second
stage of the test is performed after 15 weeks,
CVS is no longer an option as a diagnostic test.
However, it is a more accurate and comprehensive test because it includes the Quad Test
as a second stage, which examines AFP, total
ß-hCG, uE3 and Inhibin A. This second stage is
recommended to be drawn at 15 to 16 weeks,
but can be performed up to 22 weeks.
The possible detection rate for Down syndrome
is 90 percent (five percent more accurate than
the Combined Test) with only a 2.15% screen
positive rate. Patients receive their results
within 72 hours after the second trimester blood
chemistries are taken, usually around 16 to 17
weeks. Additionally, in contrast to the Combined
Test, the Integrated 190 Test helps identify
pregnancies at increased risk for open neural
tube defects.
What happens if a birth defect is discovered
through the Combined Test ?
If your baby is found to have a serious birth
defect, you can receive professional counseling
from your healthcare provider and/or genetic
counselor about how your child’s physical and
mental development may be affected. The
individual capabilities and potential of children
with birth defects are considerations which you
may wish to consider in your decision-making
process.
One option would be to continue the pregnancy
and make arrangements for appropriate
medical services at and after delivery. Other
options such as adoption and termination of
pregnancy will be discussed with you by your
healthcare provider.
Further information and support are available
through groups and local organizations as listed
below:
National Down Syndrome Society
http://www.ndss.org
National Association for Down Syndrome
http://www.nads.org
174 Mineola Boulevard • Suite #1
Mineola, New York 11501-2513
Tel: 516-320-6370
Fax: 516-248-4436
[email protected]
www.lenetix.com
The information included in this pamphlet is not intended as a
substitute for personal medical advice. Specific situations always
require a personal consultation with your healthcare provider.
Copyright © 2008
All rights reserved.
LENETIX® Medical Screening Laboratory Inc.
Trisomy 18 http://www.trisomy.org
Smith-Lemli-Opitz Syndrome
http://www.smithlemliopitz.org
COMBINED TEST INFORMED CONSENT
I have read and understand the information in this
pamphlet regarding screening for The Combined Test.
Yes, I want to have The Combined Test
No, I do not want to have The Combined Test
Patient Name: _____________________________________
Patient Signature: __________________________________
www.lenetix.com
COMB-LEN-040408
Date: ____________________
IMPORTANT: Retain Copy in Patient File
Information for
Patients
First Trimester
Risk Assessment
for
Down Syndrome
March of Dimes http://www.marchofdimes.com


The
COMBINED
TEST
www.lenetix.com
FIRST STAGE
This diagnostic test, which can be performed
after 15 weeks, collects a small amount of
amniotic fluid from around the baby. The doctor
inserts a very fine needle to extract the fluid
which contains cells from the fetus. These cells
are then cultured and examined for their genetic content. Test results are usually available
in 7 to 14 days. If the chromosome results are
negative, it will almost certainly rule out a Down
syndrome pregnancy. In addition, AFP evaluation in amniotic fluid can rule out open neural
tube defects.
Final Results Reported
What is Amniocentesis?
The COMBINED Test
Early Risk Assessment
Various choices in Risk Assessment for Down
syndrome can be found on the graph below. This
brochure discusses the Combined Test.
What are Down syndrome & Trisomy 18?
Down syndrome is the most common cause of
severe mental handicaps and physical problems such as heart defects, visual and auditory
difficulties in newborns. While it is not possible
to assess how severely each Down syndrome
baby will be affected, it is known that nine out
of ten babies will survive their first year and
nearly half of those will grow to maturity and
reach 60 years of age.
What are the advantages of having the
Combined Test?
The Combined Test is performed in the first
trimester, thereby providing results at a point in
pregnancy when early diagnostic testing such
as chorionic villus sampling (CVS), is available
as an option.
What does the Combined Test measure?
After a patient’s serum is drawn, your healthcare
provider and laboratory look for two substances
in the serum that are markers of Down
syndrome: Pregnancy Associated Plasma
Protein-A (PAPP-A) and total beta-human
chorionic gonadotropin (total ß-hCG). In
affected pregnancies, the PAPP-A tends to be
lower than normal while the total ß -hCG levels
are usually elevated.
Down syndrome occurs when either the whole
or a segment of the long arm of chromosome
21 is present in three copies instead of two.
Because Down syndrome is usually not inherited, a family with no previous history can still
have a Down syndrome baby.
Trisomy 18, which is caused by an extra
chromosome 18, results in serious mental
retardation and physical deformities including
major heart defects. Only 1 out of 10 babies
affected with Trisomy 18 lives past the first year
of life. As with Down syndrome, the risk of
having an affected child gradually increases
with age of the mother.
Before undergoing risk assessment, please consider which options
are best suited for you by discussing it with your healthcare provider.
Who is at risk?
Without screening, one baby out of every 700
would be born with Down syndrome. Although
any woman may give birth to an affected baby,
a woman’s risk increases as she ages. The
chart above compares the detection rates (the
percentage of Down syndrome pregnancies
that will be found) with the screen positive rates
(the chance that a woman’s test result will be
called “positive” indicating an increased risk of
having a baby with Down syndrome). For
example, with the 2nd Trimester Quad Test at
a 5% screen positive rate, 78% of the cases
of Down syndrome will be detected. With the
1st Trimester Combined Test, at a 5% screen
positive rate, 85% of cases of Down syndrome
will be detected. The Combined Test can also
detect approximately 85% of fetuses affected
with Trisomy 18.
At the same time a specialized ultrasound called
Nuchal Translucency (NT) measures the thickness of the fetal neck.
The values of these three markers are used
together with the mother’s age to estimate the
risk of having a Down syndrome pregnancy.
The results of the Combined Test, which will
be sent to your healthcare provider, will usually
be ready in two working days. Results will be
classified as either screen positive or screen
negative.
Why do you take age into account?
Any woman can have a baby with Down
syndrome but the chance of this happening
increases as a woman gets older. Your age is
used in calculating your risk of having a pregnancy with Down syndrome. It means that an
older woman is more likely to have a result in
the higher risk groups (screen positive) and be
offered a diagnostic test.
Does the Combined Test detect all pregnancies
with Down syndrome?
No. Seventeen of twenty or 85% of pregnancies with Down syndrome will be detected (in
the screen positive group). Therefore, three out
of 20 (15 percent) of pregnancies with Down
syndrome will have a screen negative result
and so will be missed by the Combined Test.
This is because risk assessment tests cannot
completely distinguish affected from unaffected
pregnancies.
What is the Combined Test?
By utilizing information from an ultrasound of
the baby and maternal serum analysis, the
Combined Test is performed between 11 weeks
0 days and 13 weeks 6 days of pregnancy. It is
suitable for women of all ages. The Combined
Test is an assessment of risk identifying women
who are at an increased risk of having a baby
with Down syndrome, but it cannot determine
definitely whether or not the baby is affected.
Women with a greater risk can be offered diagnostic tests such as a chorionic villus sampling
or an amniocentesis. These diagnostic tests will
actually identify which fetuses are affected.
What does a screen negative test mean?
www.lenetix.com
Copyright © 2008 - All Rights Reserved By LENETIX® MEDICAL SCREENING LABORATORY, INC
If the risk of Down syndrome based on age and
the level of the three markers is lower than one
in 200, then the result is called screen
negative and a diagnostic test would not
usually be offered.
Although a screen negative test result means
that the patient is not at high risk for having a
baby with Down syndrome, a screen negative
result does not completely rule out the possibility of a pregnancy with Down syndrome.
All patients undergoing first trimester screening
and/or CVS should still consider a 16 week
maternal serum AFP test to rule out open
neural tube defects.
What does a screen positive result mean?
A screen positive result means that you are in a
higher risk group for having a baby with Down
syndrome. If your result is in this group, you will
be offered genetic counseling to discuss your
options, one of which is a diagnostic test. About
one in 20 women who take the Combined Test
are screen positive and have a risk greater than
one in 200.
Most women with screen positive results do
not have a pregnancy with Down syndrome.
For example, of 50 women with screen positive
results, only one would have a pregnancy with
Down syndrome.
What further diagnostic tests will be offered if the
results are screen positive?
Patients will be offered Chorionic Villus
Sampling (CVS) or an amniocentesis. There is
a small risk associated with these procedures.
Patients who would consider CVS if they had a
screen positive test should have the Combined
Test as early as possible, preferably close to 11
weeks, 0 days. About one in 100 to 200 women
has a miscarriage as a result of CVS and about
one in 270 women has a miscarriage following
an amniocentesis. The detection rate for Down
syndrome after a CVS or amniocentesis is
greater than 99 percent.
What is Chorionic Villus Sampling (CVS)?
CVS is a diagnostic procedure that extracts a
small amount of placental material and tests
these cells. The material may be obtained
through the cervix of the uterus with a very
fine straw or via a needle placed through the
abdomen. The placenta is usually an excellent
source for genetic material of the fetus. This
test is performed transcervically or
transabdominally between 10 to 12 weeks of
gestation, but only transabdominally after 12
weeks gestation. Results are usually available
in five to seven days, and the detection rate
is greater than 99 percent for chromosomal
abnormalities, such as Down syndrome.
Follow-up evaluation for open neural tube
defects is necessary.
What does a screen negative result mean?
If the risk of Down syndrome, based on the Integrated
Test, is lower than 1 in 190 and the AFP level is less
than two and one half times the normal level for your
stage in pregnancy, then the result is called screen
negative and a diagnostic test would not be offered.
Although a screen negative means that you are not
at high risk of having a baby with Down syndrome or
an open neural tube defect, a screen negative result
does not completely rule out the possibility of a pregnancy with either of these abnormalities.
Why do women with screen negative results
occasionally have babies with Down syndrome
or an open neural tube defect?
It is unusual for women to have a baby with either of
these abnormalities, and it is even more unusual for a
woman with a screen negative result, but it does
sometimes happen.
This is because the screening test cannot completely
distinguish affected from unaffected pregnancies.
However small the risk is, we cannot rule out the
possibility of the baby having Down syndrome or an
open neural tube defect.
What are the advantages of risk assessment?
The test may give you and your healthcare provider
important information about your pregnancy and
your developing baby. If your baby is found to have
a serious birth defect, you can receive professional
counseling about how your child’s physical and mental
development may be effected. The individual capabilities and potential of children with birth defects are considerations which you may wish to discuss with your
genetic counselor or other healthcare provider. Other
options, such as adoption and termination of pregnancy may be discussed with you by your healthcare
provider. Further information and support are available
through groups such as your local Down Syndrome
Society and Spina Bifida Association.
Further information and support are available through
groups and local organizations as listed below:
March of Dimes www.marchofdimes.com
National Down Syndrome Society www.ndss.org
National Association for Down Syndrome www.nads.org
Trisomy 18 www.trisomy.org
Smith-Lemli-Opitz Syndrome www.smithlemliopitz.org
Spina Bifida Association www.sbaa.org
174 Mineola Boulevard • Suite 1
Mineola, New York 11501-2513
Tel: 516-248-0036
Fax: 516-248-4436
[email protected]
The information included in this pamphlet is not intended as
a substitute for personal medical advice. Specific situations
always require a personal consultation with your healthcare
provider.
www.lenetix.com
Copyright © 2007
All rights reserved.
LENETIX® Medical Screening Laboratory, Inc.
What is Amniocentesis?
Amniocentesis is a procedure in which the doctor
obtains a small sample of fluid that surrounds the
developing fetus. The sample is then sent to the
laboratory for testing. This fluid sample can be used to
diagnose both chromosomal problems such as Down
syndrome and Trisomy 18, as well as open neural
tube defects such as spina bifida.
Amniocentesis is an invasive procedure, which means
that there is a small risk of miscarriage (less than 1 in
200) associated with it. Results of the test for Down
syndrome and Trisomy 18 will take about 7-14 days.
Results of the test for spina bifida will take about 2-5
days.
No test can guarantee that your baby will be free of all
birth defects, but if the result of the amniocentesis is
negative, it will almost certainly rule out Down syndrome or other chromosome abnormalities.
INTEGRATED TEST INFORMED CONSENT
I have read and understand the information in this
pamphlet regarding screening for the Integrated Test.


Yes, I want to have the Integrated Test.
No, I do not want to have the Integrated Test.
Patient Name:
_________________________________________
Patient Signature:
Date:
_______________________________________
____________________
IMPORTANT: Retain Copy in Patient File
INT-LEN-072607.indd
www.lenetix.com
The
INTEGRATED
Test
Information for
Patients
First and Second Trimester
Risk Assessment for
Down Syndrome
and
Open Neural Tube Defects
The INTEGRATED Test
There are many choices for risk assessment for Down
Syndrome as indicated on the graph below. This
brochure discusses the Integrated test.
Risk Assessment
By integrating the measurements from the first and
second stages, a single risk assessment result is
produced. The NT measurement and the levels of the
five markers in your blood are used, together with your
age, to estimate your risk of having a Down syndrome
pregnancy.
In pregnancies with Down syndrome, PAPP-A, AFP
and uE3 levels tend to be low and nuchal translucency
measurement, inhibin, and total ß-hCG levels tend to
be raised. The level of AFP in the second blood sample
is also used to determine if there is an increased risk of
open spina bifida or anencephaly.
What is Down syndrome?
Before undergoing maternal risk assessment, please consider which options are
best suited for you by discussing it with your healthcare provider.
What does the Integrated Test involve?
Down syndrome is caused by the presence of an extra
chromosome number 21 in the cells of the developing
baby. In an unscreened population about 1 in every 700
(1.4 per 1000) babies is born with Down syndrome.
Usually it is not inherited and so a baby can be affected
even if there is no history of Down syndrome in the
family.
The Integrated test is performed in two stages. The
first stage is ideally performed at 12 weeks of pregnancy, but any time between 11 and 13 weeks 6 days of
pregnancy is acceptable. The second stage is ideally
performed at 15 or 16 weeks of pregnancy but no later
than 22 weeks.
Down syndrome is the most common cause of severe
mental disability and is often associated with physical
problems such as heart defects or difficulty with sight
and hearing. It is not possible to assess the degree of
handicap before the baby is born. About 9 out of 10
babies with Down syndrome will survive their first year
and nearly half of these will reach 60 years of age.
The first stage involves:
What are open neural tube defects?
•
An Ultrasound scan examination to precisely
determine the gestational age of the pregnancy
through the crown rump length.
• Taking a sample of your blood to measure the
concentration of pregnancy associated plasma
protein-A (PAPP-A).
•
A Nuchal Translucency (NT) measurement between 11 weeks 0 days and 13 weeks 6 days.
The second stage involves:
Taking a second sample of your blood to measure the
concentration of the following four markers:
•
•
•
•
alpha-fetoprotein (AFP)
unconjugated estriol (uE3)
inhibin-A
human chorionic gonadotropin (total ß-hCG)
The two main kinds of open neural tube defects
(ONTDs) are spina bifida and anencephaly.
Babies with spina bifida have an opening in the spine
that can result in damage to the nerves controlling
the lower part of the body. This causes weakness and
paralysis of the legs, and sometimes bowel and bladder
problems. Babies with problems are also more likely
to have a collection of fluid on the brain, called hydrocephalus, which can be treated surgically but may lead
to mental disability.
Babies with anencephaly have a large part of the skull
missing and the brain is not properly formed. They
always die before or very soon after they are born. In
about 1 in every 5 babies with spina bifida the spinal
opening is covered with skin or thick tissue. This is
called closed spina bifida and will not be detected by
the blood test. This condition is usually less severe than
open spina bifida.
Can other abnormalities be identified?
Yes. The risk of two other disorders can be estimated.
One is Trisomy 18, a rare and usually fatal disorder
caused by the presence of an extra number 18 chromosome in the cells of the developing baby. The risk
of Trisomy 18 can be estimated using PAPP-A, AFP,
uE3 and total ß-hCG, and is reported only when the
risk is high. The second is called Smith-Lemli-Opitz
syndrome, a genetic disorder caused by an error in the
synthesis of cholesterol. Smith-Lemli-Opitz syndrome is
associated with many problems in the developing baby,
most important are mental retardation and poor growth.
The risk of Smith-Lemli-Opitz syndrome can also be estimated using AFP, uE3 and total ßhCG and is reported
only when risk is high.
What is a risk?
A risk is the chance of an event occurring. For example, a risk of Down syndrome of 1 in 100 means that
if 100 women have this test result, we would expect
that 1 of these women would have a baby with Down
syndrome and that 99 would not. This is the same as
a 1% chance that the baby has Down syndrome and a
99% chance that the baby does not.
Why do you take age into account?
Any woman can have a baby with Down syndrome but
the chance of this happening increases as a woman
gets older. We use age as one of the factors when
working out your risk of pregnancy with Down syndrome. It means that an older woman is more likely to
have a result in the higher risk group (screen positive)
and be offered a diagnostic test.
Why wait until the second stage to have a risk
estimate?
By using information from both stages the test is safer
and more effective than a test using information from
the first stage alone. It will distinguish affected from
unaffected pregnancies more effectively, reducing the
chance that a Down syndrome pregnancy is missed. It
also reduces the chance that you will need an invasive
diagnostic test, such as amniocentesis.
What happens if the ultrasound scan shows that
I am too late for the first stage of the test?
We cannot report a screening result for the Integrated
Test. You could have a screening
test based on the second stage
alone (the AFP+QUAD test).
174 Mineola Boulevard • Suite 1
Mineola, New York 11501-2513
Tel: 516-248-0036
[email protected]
What happens if I cannot attend for the second
blood test?
If you do not attend for the second stage of the Integrated test, a screening result cannot be reported. We
will try to contact your healthcare provider on two
occasions after the recommended date for your
second blood sample. If we do not receive your second
blood sample a Down syndrome risk is given based on
information from the first stage only.
If you know you will not be able to attend for the second blood test, please discuss this with your doctor.
You could have the screening based on the first blood
test and the ultrasound examination alone (the Combined test) but this is less effective than the Integrated
Test.
When will the results of the second stage be
available?
The results of the test are usually ready within three
working days of the second blood sample being taken.
Results are sent to your doctor, midwife or healthcare
professional.
The result will be either screen negative or screen
positive.
Screen positive results are telephoned and faxed to
your doctor, healthcare professional, or midwife. If you
do not receive your results or have further questions
please telephone LENETIX® at (516) 248-0036 to
speak to a genetic counselor.
What does a screen positive result for Down
syndrome mean?
A screen positive result means that you are in a higher risk group for having a baby with Down syndrome.
If your result is in this group, you will be offered a
diagnostic amniocentesis.
The result is called screen positive if the risk of Down
syndrome in your pregnancy is 1 in 190 or greater.
About 1 in every 50 women screened will be in this risk
group. Most women with screen positive results do not
have a pregnancy with Down syndrome.
What does a screen positive result for open
neural tube defects mean?
A screen positive result means that you are in a group
with an increased risk of having a baby with an open
neural tube defect. If your result is in this group, you
will be offered an ultrasound scan examination at 18
to 20 weeks of pregnancy, and possibly an amniocentesis. This is organized by your doctor or hospital. The
result is screen positive if the AFP level is equal to or
higher than two and one half times the normal
(median) level for your stage in pregnancy.
If the risk of Down syndrome, based on the Integrated
190, is lower than 1 in 190 and the AFP level is less
than two and one half times the normal level for your
stage in pregnancy, then the result is called screen
negative and a diagnostic test would not be offered.
Although a screen negative means that you are not
at high risk of having a baby with Down syndrome or
an open neural tube defect, a screen negative result
does not completely rule out the possibility of a pregnancy with either of these abnormalities.
Why do women with screen negative results
occasionally have babies with Down syndrome
or an open neural tube defect?
It is unusual for women to have a baby with either of
these abnormalities, and it is even more unusual for a
woman with a screen negative result, but it does
sometimes happen.
This is because the screening test cannot completely
distinguish affected from unaffected pregnancies.
However small the risk is, we cannot rule out the
possibility of the baby having Down syndrome or an
open neural tube defect.
INTEGRATED
What are the advantages of risk assessment?
The test may give you and your healthcare provider
important information about your pregnancy and
your developing baby. If your baby is found to have
a serious birth defect, you can receive professional
counseling about how your child’s physical and mental
development may be effected. The individual capabilities and potential of children with birth defects are considerations which you may wish to discuss with your
genetic counselor or other healthcare provider. Other
options, such as adoption and termination of pregnancy may be discussed with you by your healthcare
provider. Further information and support are available
through groups such as your local Down Syndrome
Society and Spina Bifida Association.
Further information and support are available through groups
and local organizations as listed below:
March of Dimes www.marchofdimes.com
National Down Syndrome Society www.ndss.org
National Association for Down Syndrome www.nads.org
Trisomy 18 www.trisomy.org
Smith-Lemli-Opitz Syndrome www.smithlemliopitz.org
Spina Bifida Association www.sbaa.org
174 Mineola Boulevard • Suite #1
Mineola, New York 11501-2513
Tel: 516-320-6370
Fax: 516-248-4436
[email protected]
The information included in this pamphlet is not intended as
a substitute for personal medical advice. Specific situations
always require a personal consultation with your healthcare
provider.
www.lenetix.com
Copyright © 2008
All rights reserved.
LENETIX® Medical Screening Laboratory, Inc.
No test can guarantee that your baby will be free of all
birth defects, but if the result of the amniocentesis is
negative, it will almost certainly rule out Down syndrome or other chromosome abnormalities.
SECOND STAGE
Final Results Reported
Amniocentesis is an invasive procedure, which means
that there is a small risk of miscarriage (less than 1 in
200) associated with it. Results of the test for Down
syndrome and Trisomy 18 will take about 7-14 days.
Results of the test for spina bifida will take about 2-5
days.
INTEGRATED 190 INFORMED CONSENT
I have read and understand the information in this
pamphlet regarding screening for the Integrated 190.


Yes, I want to have the Integrated 190 Test.
No, I do not want to have the Integrated 190 Test.
Patient Name:
_________________________________________
Patient Signature:
Date:
_______________________________________
____________________
IMPORTANT: Retain Copy in Patient File
INT-040308web
Information for
Patients
First and Second Trimester
Risk Assessment for
Down Syndrome
and
Open Neural Tube Defects
What is Amniocentesis?
Amniocentesis is a procedure in which the doctor
obtains a small sample of fluid that surrounds the
developing fetus. The sample is then sent to the
laboratory for testing. This fluid sample can be used to
diagnose both chromosomal problems such as Down
syndrome and Trisomy 18, as well as open neural
tube defects such as spina bifida.
190
FIRST STAGE
What does a screen negative result mean?
www.lenetix.com
INTEGRATED 190
Can other abnormalities be identified?
Risk Assessment
There are many choices for risk assessment for Down
Syndrome as indicated on the graph below. This
brochure discusses the Integrated 190 test.
By integrating the measurements from the first and
second stages, a single risk assessment result is
produced. The NT measurement and the levels of the
five markers in your blood are used, together with your
age, to estimate your risk of having a Down syndrome
pregnancy.
In pregnancies with Down syndrome, PAPP-A, AFP
and uE3 levels tend to be low and nuchal translucency
measurement, inhibin, and total ß-hCG levels tend to
be raised. The level of AFP in the second blood sample
is also used to determine if there is an increased risk of
open spina bifida or anencephaly.
What is Down syndrome?
Before undergoing maternal risk assessment, please consider which options are
best suited for you by discussing it with your healthcare provider.
(This chart is an artist’s graphical rendering for counseling purposes only.)
What does the Integrated 190 Test involve?
The Integrated 190 is performed in two stages. The
first stage is ideally performed at 12 weeks of pregnancy, but any time between 11 weeks to 13 weeks and 6
days of pregnancy is acceptable. The second stage is
ideally performed at 16 weeks to 18 weeks of pregnancy, but may be preformed as early as 15 weeks 0 days
and no later than 22 weeks.
The first stage involves:
•
An Ultrasound scan examination to precisely
determine the gestational age of the pregnancy
through the crown rump length.
• Taking a sample of your blood to measure the
concentration of pregnancy associated plasma
protein-A (PAPP-A).
•
A Nuchal Translucency (NT) measurement between 11 weeks 0 days and 13 weeks 6 days.
The second stage involves:
Taking a second sample of your blood to measure the
concentration of the following four markers:
•
•
•
•
alpha-fetoprotein (AFP)
unconjugated estriol (uE3)
inhibin-A
human chorionic gonadotropin (total ß-hCG)
Down syndrome is caused by the presence of an extra
chromosome number 21 in the cells of the developing
baby. In an unscreened population about 1 in every 700
(1.4 per 1000) babies is born with Down syndrome.
Usually it is not inherited and so a baby can be affected
even if there is no history of Down syndrome in the
family.
Yes. The risk of two other disorders can be estimated.
One is Trisomy 18, a rare and usually fatal disorder
caused by the presence of an extra number 18 chromosome in the cells of the developing baby. The risk
of Trisomy 18 can be estimated using PAPP-A, AFP,
uE3 and total ß-hCG, and is reported only when the
risk is high. The second is called Smith-Lemli-Opitz
syndrome, a genetic disorder caused by an error in the
synthesis of cholesterol. Smith-Lemli-Opitz syndrome is
associated with many problems in the developing baby,
most important are mental retardation and poor growth.
The risk of Smith-Lemli-Opitz syndrome can also be estimated using AFP, uE3 and total ßhCG and is reported
only when the risk is high.
What is a risk?
A risk is the chance of an event occurring. For example, a risk of Down syndrome of 1 in 100 means that
if 100 women have this test result, we would expect
that 1 of these women would have a baby with Down
syndrome and that 99 would not. This is the same as
a 1% chance that the baby has Down syndrome and a
99% chance that the baby does not.
Why do you take age into account?
Down syndrome is the most common cause of severe
mental disability and is often associated with physical
problems such as heart defects or difficulty with sight
and hearing. It is not possible to assess the degree of
handicap before the baby is born. About 9 out of 10
babies with Down syndrome will survive their first year
and nearly half of these will reach 60 years of age.
Any woman can have a baby with Down syndrome but
the chance of this happening increases as a woman
gets older. We use age as one of the factors when
working out your risk of pregnancy with Down syndrome. It means that an older woman is more likely to
have a result in the higher risk group (screen positive)
and be offered a diagnostic test.
What are open neural tube defects?
Why wait until the second stage to have a risk
estimate?
The two main kinds of open neural tube defects
(ONTDs) are spina bifida and anencephaly.
Babies with spina bifida have an opening in the spine
that can result in damage to the nerves controlling
the lower part of the body. This causes weakness and
paralysis of the legs, and sometimes bowel and bladder
problems. Babies with problems are also more likely
to have a collection of fluid on the brain, called hydrocephalus, which can be treated surgically but may lead
to mental disability.
Babies with anencephaly have a large part of the skull
missing and the brain is not properly formed. They
always die before or very soon after they are born. In
about 1 in every 5 babies with spina bifida the spinal
opening is covered with skin or thick tissue. This is
called closed spina bifida and will not be detected by
the blood test. This condition is usually less severe than
open spina bifida.
Copyright © 2008 - All rights reserved. • LENETIX® Medical Screening Laboratory, Inc. • 174 Mineola Blvd. • Suite #1 • Mineola, NY 11501 • Tel: 516-320-6370 • [email protected] • www.lenetix.com
By using information from both stages the test is safer
and more effective than a test using information from
the first stage alone. It will distinguish affected from
unaffected pregnancies more effectively, reducing the
chance that a Down syndrome pregnancy is missed. It
also reduces the chance that you will need an invasive
diagnostic test, such as amniocentesis.
What happens if the ultrasound scan shows that
I am too late for the first stage of the test?
We cannot report a screening result for the
Integrated 190 Test. You could have a screening test
based on the second stage alone
(the AFP+QUAD test).
174 Mineola Boulevard • Suite #1
Mineola, New York 11501-2513
Tel: 516-320-6370
[email protected]
What happens if I cannot attend for the second
blood test?
If you do not attend for the second stage of the
Integrated 190 Test, a screening result cannot be
reported. We will try to contact your healthcare
provider on two occasions after the recommended date
for your second blood sample. If we do not receive
your second blood sample a Down syndrome risk is
given based on information from the first stage only.
If you know you will not be able to attend for the second blood test, please discuss this with your doctor.
You could have the screening based on the first blood
test and the ultrasound examination alone (the
Combined test) but this is less effective than the
Integrated 190 Test.
When will the results of the second stage be
available?
The results of the test are usually ready within three
working days of the second blood sample being taken.
Results are sent to your doctor, midwife or healthcare
professional.
The result will be either screen negative or screen
positive.
Screen positive results are telephoned and faxed to
your doctor, healthcare professional, or midwife. If you
do not receive your results or have further questions
please telephone a LENETIX® representative at (516)
320-6370 to speak to a genetic counselor.
What does a screen positive result for Down
syndrome mean?
A screen positive result means that you are in a
higher risk group for having a baby with Down
syndrome. If your result is in this group, you will be
offered a diagnostic amniocentesis.
The result is called screen positive if the risk of Down
syndrome in your pregnancy is 1 in 190 or greater.
Most women with screen positive results do not have a
pregnancy with Down syndrome.
What does a screen positive result for open
neural tube defects mean?
A screen positive result means that you are in a group
with an increased risk of having a baby with an open
neural tube defect. If your result is in this group, you
will be offered an ultrasound scan examination at 18
to 20 weeks of pregnancy, and possibly an amniocentesis. This is organized by your doctor or hospital. The
result is screen positive if the AFP level is equal to or
higher than two and one half times the normal
(median) level for your stage in pregnancy.
Why do women with screen negative results
occasionally have babies with Down syndrome
or an Open Neural Tube Defect?
It is unusual for women to have a baby with either of these
abnormalities, and it is even more unusual for a woman with
a screen negative result, but it does sometimes happen.
This is because the screening test cannot completely distinguish affected from unaffected pregnancies. However small
the risk is, we cannot rule out the possibility of the baby having Down syndrome or an open neural tube defect.
What does a screen positive result for Down
syndrome mean?
A screen positive result means that you are in a high risk
group for having a baby with Down syndrome. If your result
is in this group, you will be offered genetic counseling and the
option of a diagnostic test such as CVS or amniocentesis.
The result is called screen positive if the risk of Down syndrome in your pregnancy is 1 in 200 or greater in the first
trimester or 1 in 270 or greater in the second trimester. Most
women with screen positive results do not have a pregnancy
with Down syndrome. For example, of 20 women with screen
positive results for Down syndrome, only one would actually
have a pregnancy with Down syndrome.
What does a screen positive result for Open
Neural Tube defects mean?
A screen positive result means that you are in a group with
an increased risk of having a baby with an open neural
tube defect. If your result is in this group, you will be offered
genetic counseling, an ultrasound scan examination at 18 to
20 weeks of pregnancy, and the option of an amniocentesis.
This is organized by your doctor or hospital.
What is Chorionic Villus Sampling (CVS)?
If your result is screen positive in the first trimester then
CVS may be an option. CVS is a diagnostic procedure
that extracts a small amount of placental material which
is usually an excellent source of genetic material from
the fetus. This test is performed either transcervically or
transabdominally between 10 to 12 weeks of gestation, but
only transabdominally after 12 weeks gestation. There is a
small risk associated with CVS. Less than one percent of
women may have a miscarriage as a result of the procedure.
Results are usually available in five to seven days, and the
detection rate is greater than 99 percent for chromosomal
abnormalities, such as Down syndrome. Follow-up evaluation
for open neural tube defects is necessary.
What is Amniocentesis?
Amniocentesis is usually performed between 15 and 20
weeks, and is a procedure in which the doctor obtains a
sample of amniotic fluid that surrounds the developing fetus.
The sample is then sent to the laboratory for testing. This
fluid sample can be used to diagnose both chromosomal
problems such as Down syndrome and Trisomy 18, as well
as open neural tube defects such as spina bifida.
mod-seq-LEN-07-19-07
Amniocentesis is an invasive procedure, which means that
there is a small risk of miscarriage (less than 1 in 200) associated with it. Results of the test for Down syndrome and
Trisomy 18 will take about 7-14 days. Results of the test for
open spina bifida will take about 2-5 days.
No test can guarantee that your baby will be free of all birth
defects, but if the result of the amniocentesis is negative, it
will almost certainly rule out Down syndrome and/or other
chromosome abnormalities.
What are the advantages of risk assessment?
The test may give you and your healthcare provider important information about your pregnancy and your developing
baby. If your baby is found to have a serious birth defect,
you can receive professional counseling about how your
child’s physical and mental development may be effected.
The individual capabilities and potential of children with
birth defects are considerations which you may wish to discuss with your genetic counselor or other healthcare provider. Other options, such as adoption and termination of
pregnancy may be discussed with you by your healthcare
provider. Further information and support are available
through groups such as your local Down Syndrome Society
and Spina Bifida Association.
Further information and support are available through groups
and local organizations as listed below:
March of Dimes www.marchofdimes.com
National Down Syndrome Society www.ndss.org
National Association for Down Syndrome www.nads.org
Smith-Lemli-Opitz Syndrome www.smithlemliopitz.org
Spina Bifida Association www.sbaa.org
Trisomy 18 www.trisomy.org
174 Mineola Boulevard • Suite 1
Mineola, New York 11501
Tel: 516-248-0036
Fax: 516-248-4436
[email protected]
2007
REVISED
CUTOFFS
The information included in this pamphlet is not intended as
a substitute for personal medical advice. Specific situations
always require a personal consultation with your healthcare
provider.
www.lenetix.com
Copyright © 2007
All rights reserved.
LENETIX® Medical Screening Laboratory, Inc.
MODIFIED SEQUENTIAL INFORMED CONSENT
I have read and understand the information
in this pamphlet regarding screening for the
Modified Sequential Test.

Yes, I want to have the Modified Sequential Test.

No, I do not want to have the Modified Sequential Test.
Patient Name:
___________________________________________
Patient Signature:
Date:
__________________________________
____________________
IMPORTANT: Retain Copy in Patient File
MODIFIED
SEQUENTIAL
TEST
www.lenetix.com
Information for
Patients
First and Second Trimester
Risk Assessment
for
Down Syndrome and
Open Neural Tube
Defects
The MODIFIED SEQUENTIAL Test
Risk Assessment
What does the Modified Sequential test involve?
The Modified Sequential test is performed in two stages. The
first stage is ideally performed at 12 weeks of pregnancy, but
any time between 11 and 13 weeks of pregnancy is acceptable. The second stage is ideally performed at 16 to 18 weeks
of pregnancy, but may be performed as early as 15 weeks
and no later than 22 weeks.
The first stage involves:
•
An Ultrasound scan examination to precisely determine
the gestational age of the pregnancy through the crown
rump length (CRL) of the baby.
• Taking a sample of your blood to measure the concentration of pregnancy associated plasma protein-A
(PAPP-A) and total human chorionic gonadotropin
(total ß-hCG).
•
A Nuchal Translucency (NT) measurement between
11 weeks 0 days and 13 weeks 6 days.
After the first stage evaluation two risk groups are identified.
1. High risk: Patients at a risk of 1 in 200 or greater
are offered genetic counseling and the option of an
invasive diagnostic test such as CVS or amniocentesis.
(See “What does a screen positive result for Down
Syndrome Mean?”)
2. The remaining patients will benefit from proceeding
to the second stage.
The second stage involves:
Taking a second blood sample to measure the concentration
of four different markers:
•
•
•
•
alpha-fetoprotein (AFP)
unconjugated estriol (uE3)
inhibin-A
total human chorionic gonadotropin (total ß-hCG)
The NT measurement and the levels of the five markers in
your specimen are used, together with your age, to estimate
your risk of having a Down syndrome pregnancy.
In pregnancies with Down syndrome, PAPP-A, AFP and uE3
levels tend to be decreased and nuchal translucency measurement, inhibin, and total ß-hCG levels tend to be increased
compared to unaffected pregnancies. The level of AFP in the
second blood sample is also used to determine if there is an
increased risk of open spina bifida, anencephaly or an abnormal opening of the baby’s abdominal wall.
What is a risk?
A risk is the chance of an event occurring. For example, a
risk of Down syndrome of 1 in 100 means that if 100 women
have this test result, we would expect that 1 of these women
would have a baby with Down syndrome and that 99 would
not. This is the same as a 1% chance that the baby has Down
syndrome and a 99% chance that the baby does not.
What is Down syndrome?
Down syndrome is caused by the presence of an extra chromosome number 21 in the cells of the developing baby. In an
unscreened population about 1 in every 700 (1.4 per 1000)
babies is born with Down syndrome. Usually it is not inherited
and so a baby can be affected even if there is no history of
Down syndrome in the family.
Down syndrome is the most common cause of severe mental
disability and is often associated with physical problems such
as heart defects or difficulty with sight and hearing. It is not
possible to assess the degree of handicap before the baby
is born. About 9 out of 10 babies with Down syndrome will
survive their first year and nearly half of these will reach 60
years of age.
What are Open Neural Tube Defects (ONTD)?
Why is your age taken into account?
Any woman can have a baby with Down syndrome but
the chance of this happening increases as a woman gets
older. We use age as one of the factors when working out
your risk of pregnancy with Down syndrome. It means
that an older woman is more likely to have a result in
the higher risk group (screen positive) and be offered a
diagnostic test.
Why will some patients have to wait until the
second stage to have a risk estimate?
Patients with high risk results have been identified in the
first stage. Risk assessment ends for them. The remainder of patients proceed to the second stage. At this point,
adding additional markers helps distinguish affected from
unaffected pregnancies more effectively and reduces the
chances that a Down syndrome pregnancy is missed. It
also reduces the chance that an invasive diagnostic test,
such as amniocentesis will be indicated.
What happens if I am too late for the first
stage of the Modified Sequential test?
The two main kinds of open neural tube defects (ONTDs) are
open spina bifida and anencephaly.
We cannot report a screening result for the Modified
Sequential test. You could have a
screening test based on the second
stage alone (the AFP+QUAD test).
Babies with open spina bifida have an opening in the spine
that can result in damage to the nerves controlling the lower
part of the body. This causes weakness and paralysis of the
legs, and sometimes bowel and bladder problems. Babies with
these problems are also more likely to have a collection of
fluid on the brain, called hydrocephalus, which can be treated
surgically but may lead to mental disability.
What happens if I cannot
attend for the second stage
of the Modified Sequential
test?
Babies with anencephaly have a large part of the skull missing
and the brain is not properly formed. They always die before
or very soon after they are born. In about 1 in every 5 babies
with spina bifida the spinal opening is covered with skin or
thick tissue. This is called closed spina bifida and will not
be detected by the blood test. This condition is usually less
severe than open spina bifida.
Can other abnormalities be identified?
Yes. The risk of two other disorders can be estimated. One is
Trisomy 18, a rare and usually fatal disorder caused by the
presence of an extra number 18 chromosome in the cells of
the developing baby. The risk of Trisomy 18 can be estimated
using PAPP-A, AFP, uE3 and total ß-hCG, and is reported only
when the risk is high. The second is called Smith-Lemli-Opitz
syndrome (SLOS), a genetic disorder caused by an error in
the synthesis of cholesterol. Smith-Lemli-Opitz syndrome is
associated with many problems in the developing baby, most
important are mental retardation and poor growth. The risk of
Smith-Lemli-Opitz syndrome (SLOS) can also be estimated
using AFP, uE3 and total ßhCG and is reported only when the
risk is high.
Copyright © 2007 - All rights reserved. • LENETIX® Medical Screening Laboratory, Inc. • 174 Mineola Blvd. • Suite #1 • Mineola, NY 11501 • Tel: 516-248-0036 • [email protected] • www.lenetix.com
If you do not attend for the second
stage of the Modified Sequential
test, a screening result cannot be
reported. We will try to contact your
healthcare provider on two occasions after the recommended date
for your second blood sample. If we
do not receive your second blood
sample a Down syndrome risk is
given based on information from the
first stage only.
If you know you will not be able
to attend for the second blood
test, please discuss this with your
healthcare provider. You could
have the screening based on the
first blood test and the ultrasound
examination alone (the Combined
test) but this is less effective than the
Modified Sequential test.
When will the results of the second stage be
available?
The results of the test are usually ready within three working
days of the second blood sample being taken. Results are
sent to your doctor, midwife or healthcare provider.
The result will be either screen negative or screen positive.
Screen positive results are telephoned and faxed to your doctor, healthcare professional, or midwife. If you do not receive
your results or have further questions please telephone
LENETIX® at (516) 248-0036 to speak with a genetic
counselor.
What does a screen negative result mean?
If the risk of Down syndrome, based on the Modified Sequential test, is lower than 1 in 270 and the AFP level is less
than two and one half times the normal level for your stage
in pregnancy, then the result is called screen negative and a
diagnostic test would not be offered.
Although a screen negative means that you are not at high
risk of having a baby with Down syndrome or an open neural
tube defect, a screen negative result does not completely
rule out the possibility of a pregnancy with either of these
abnormalities.