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misc.kids FAQ on the Pregnancy AFP Screen and the Triple Screen


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Archive-name: misc-kids/pregnancy/screening/AFP
Posting-Frequency: monthly
Last-Modified: January 4, 1999

See reader questions & answers on this topic! - Help others by sharing your knowledge
------------------------------------------------------------

                    Misc.kids Frequently Asked Questions

                      AFP Screen and the Triple Screen

=====================================================================
Collection originally written by Dorothy Neville
(neville@cs.washington.edu) and currently maintained by Lynn Gazis-Sax
(gazissax@netcom.com).
Last updated: 1/4/99

To contribute to this collection, please send e-mail to the address given
above, and ask me to add your comments to the FAQ file on AFP Screen and
the Triple Screen. Please try to be as concise as possible, as these FAQ
files tend to be quite long as it is. And, unless otherwise requested, your
name and e-mail address will remain in the file, so that interested readers
may follow-up directly for more information/discussion.

For a list of other FAQ topics, ftp to the pub/usenet/misc.kids directory
of rtfm.mit.edu or tune in to misc.kids.info.
=====
Copyright 1994, Dorothy Neville. Use and copying of this information are
permitted as long as (1) no fees or compensation are charged for use,
copies or access to this information, and (2) this copyright notice is
included intact.
====

=====================================================================
[NOTE: this is information collected from many sources and while I have
strived to be accurate and complete, I cannot guarantee that I have
succeeded. This is not medical advice. For that, see your doctor or other
health care provider.]

                                  SUMMARY:

These screening tests are used to predict which pregnancies are at elevated
risk of certain abnormalities. They do not give conclusive results; an
abnormal result means that more testing is suggested. This can be very
distressing. Especially distressing is that some caregivers and books do
not make clear the inconclusive nature of the tests; women have been told
that their baby definitely has a defect on the basis of this test. This is
irresponsible medicine. Most women with abnormal results will have healthy
normal babies. Below are some details about the tests and what they can and
cannot do. The information is mostly taken from two brochures prepared by
the Laboratory of Pathology of Seattle and the Swedish Hospital Medical
Center. I have also added information from other sources.

Every woman contemplating these tests should have access to accurate
information in order to make an informed decision about whether or not to
have the tests, and how to interpret the results. Unfortunately there are
enough stories on misc.kids to show that this does not happen. Perhaps the
following will be helpful to those contemplating having the screen, or
people who have had the screen and have gotten disturbing results.

                                   INDEX:

1. What are the Screens?

Neural tube defects:

2.a What is alpha-fetoprotein
2.b Why is age of the fetus important?
2.c What are the neural tube defects and their severity?
2.d What are my chances of having a baby with neural tube defects?
2.e What about folic acid?
2.f Will this test detect all cases of neural tube defects?

Down's Syndrome

3.a What is Down's syndrome?
3.b Will this test detect all cases of Down's?

General

4.a Will this test guarantee a normal baby?
4.b How are the results presented?

5.a What should I do if the values are abnormal?
5.b If the ultrasound is normal, does that guarantee a normal baby?

6.a What are the benefits of the test?
6.b What are the risks of the test?
6.c Should I have the screen?

7. What are some resources for more information?

8. Some stories from women who have had the tests.
----------------------------------------------------

1. What are the screens?

1. This FAQ covers questions about two similar tests that are available for
pregnant women. The first, AFP, is a measurement of alpha-fetoprotein. The
second test is newer and combines the AFP test with measurements of two
hormones, unconjugated estriol and human chorionic gonadotropin. It is
often called the "triple screen".
-----------------------------

Addition by Dr. Tim Reynolds:

The triple test is a mis-nomer. The test combines AFP with a variety of
different assays and no definite proof of which is best currently exists In
fact they are all about the same so far as data available allows us to
tell. Combinations available are:

AFP + total HCG

AFP + Free beta HCG (free beta is a subsection of the HCG molecule)

AFP + total HCG + unconjugated estriol (uE3)

AFP + free beta HCG + uE3

AFP + free beta HCG + uE3 + Free alpha HCG

AFP + free beta HCG + uE3 + neutrophil alkaline phosphatase

The detection rates reported for these different combinations all suggest
Detection rate is about 60% and differences of 1-2% exist between different
combinations: However the data available is not sufficient to determine
which combination is better. Other evidence suggests that as the number of
analytes used to estimate risk increases, the errors become multiplied and
the result becomes less accurate. It is probably better therefore to use
the simpler screening combinations (AFP + total or free beta HCG) and not
bother with uE3, free alpha or any of the other markers. If you are told
that you can have a 2-marker test or a 3-marker test if you pay more: opt
for the 2-marker test.
-----------------------------
Both tests use a blood sample from the mother at a specific time during
pregnancy. The AFP can be done during weeks 16 to 18 LMP, the triple screen
can be done from weeks 15 to 18 LMP.
-----------------------------

Addition by Dr. Tim Reynolds:

The test can be done using AFP + free beta from 11 weeks, but the
diagnostic test has a very high rate of miscarriage (up to 5%) so it is
best to wait until 14 weeks (at least). The accuracy of the test is
affected by gestation dating: It is best to have an ultrasound scan before
the screen to confirm your gestation dates.
-----------------------------
An elevated level of AFP in the sample indicates an increased risk of
neural tube defects in the fetus. A depressed level of AFP indicates an
increased risk of Down's syndrome. The triple screen uses levels of all
three substances to indicate increased risk of Down's. This is considered a
more accurate screen for Down's.
-----------------------------

Addition by Dr. Tim Reynolds:

Down's syndrome is associated with decreased AFP and uE3, and increased
HCG. A combination of low AFP and high HCG is particularly significant. The
maths of calculating results is quite complex but also takes into account
the maternal age.
-----------------------------
Neither test can tell you if something is wrong with your baby. Only a
diagnostic test (such as chorion villi sampling or amniocentesis) can tell
definitively if something is wrong. The AFP and the triple screen help to
identify pregnancies that are at increased risk.

BEING AT INCREASED RISK DOES NOT AUTOMATICALLY MEAN YOUR BABY HAS A DEFECT!
Most women who find themselves in the elevated risk category give birth to
healthy, normal children. This fact is often missed when interpreting the
results of this screen.
-----------------------------

Addition by Dr. Tim Reynolds:

In young women, the predictive value of a +ve Downs screen result is about
1%: i.e. only 1 in every 100 young women with a +ve result will be carrying
a Down's fetus. In older women, the +ve pred. value is about 4%.
-----------------------------

2.a What is apha-fetoprotein?

2.a AFP is a protein produced by every fetus. The baby urinates it into the
amniotic fluid, and it makes its way from there into the mothers blood for
excretion. There is a normal range of AFP found in the mothers blood; this
is determined by the age of the fetus.

A baby with an open spinal defect often leaks larger quantities of AFP into
the amniotic fluid, and in turn, into the mothers bloodstream.

An elevated level of AFP *does NOT* diagnose a neural tube defect! Babies
with such defects tend to produce more AFP, which gets into the mother's
blood, but there are also other reasons for an elevated level. The most
common reason for elevated AFP is that the age of the fetus was estimated
incorrectly. Twin pregnancy would also tend to show elevated levels.
-----------------------------

Addition by Dr. Tim Reynolds:

This is a good reson why an ultrasound should be done first because it is
not possible to do Down's screens on multiple pregnancies: An amnio is
needed for confirmation of result and it is virtually impossible to be
certain that trisomy cells found in a twin pregnancy come from a particular
twin: This leads to the possibility of a selective abortion in which the
wrong twin is aborted: Ergo, Down's screening in twin pregnancies is very
inadvisable.
-----------------------------

2.b Why is the age of the fetus important?

2.b The normal ranges of AFP and the hormones of the triple screen will
vary with the age of the fetus. So in order to determine if the values are
in the normal range, one must have an accurate date. This can be
problematic if date of conception or last menstrual period is not known.
For women with cycles significantly longer or shorter than 28 days, or who
don't have regular cycles at all, scheduling or interpreting the results of
the screens will be difficult if not impossible without ultrasound to more
accurately date the fetus.

The first thing that many doctors do when a patient has an abnormal AFP or
triple screen is request an ultrasound to recalculate the age of the fetus
(and to rule out twins). Often the recalculated age is enough evidence to
rule the screen result normal.
-----------------------------

Addition by Dr. Tim Reynolds:

Better to do scan first (this is standard practice in most centres in the
UK).
-----------------------------

2.c. What are the neural tube defects and their severity?

2.c The two main defects are spina bifida (open spine) and anencephaly.

The problems associated with spina bifida will vary with the size, location
and nature of the opening in the spine. Problems range from mild backaches
to severe mental retardation, paralysis, bowel and bladder control problems
and leg deformities. Generally speaking, the AFP test is more likely to
detect the more severe forms of spina bifida.

Anencephaly is a failure of the brain and skull to fully develop. It is
incompatible with life.

2.d What are my chances of having a baby with a neural tube defect?

2.d In the US, about 1,600 to 2,000 babies are born with spina bifida each
year. About 800 are born with anencephaly. (from American Baby, jul 93)

The cause(s) are unknown. Having one child with a neural tube defect does
increase the probability of having another. Yet, over 95% of babies with
neural tube defects are born to families in which there is no history of
birth defects or pregnancy problems.

2.e What about Folic Acid?

2.e Folic acid (or folacin) is a vitamin found in green vegetables, legumes
and other sources. An average diet is generally deficient in folic acid.
Studies have shown that when women with known risk factors of having a baby
with neural tube defects take folic acid supplements from before conception
to about 8 weeks of pregnancy, they can reduce their risk for these
defects. A more recent study claims that this is beneficial for all women,
not just those with previous risk factors.

For pregnant women or those trying to get pregnant, the recommended daily
amount of folic acid is either 400 or 800 micrograms (.4 or .8 mgs)
depending on what source you read. It is very unwise to take more than a
1000 micrograms (1 mg) a day, as folic acid at this level can mask other
serious health problems. In fact, because of this caution, in some places
folic acid is not sold over the counter as a stand alone supplement. This
may be changing due to this new link to neural tube defects. I was able to
find 800 mcg folic acid capsules over the counter in Washington state.
Someone from Pennsylvania reports that it is not available there except by
prescription. All prenatal vitamins ought to have at least 400 mcg. The FDA
is also considering requiring fortification of grain products with folacin.

While the benefit of taking folic acid on neural tube defects is limited to
early in pregnancy, it is still an important nutrient for building red
blood cells and is important throughout the entire pregnancy. Some doctors
are beginning to consider it as important as iron supplementation. Talk to
your dr for his or her recommendation.

2.f Will this test detect all cases of neural tube defects?

2.f No. The screening process will detect 80% of the cases of spina bifida
and 90% of the cases of anencephaly.
-----------------------------

Addition by Dr. Tim Reynolds:

Hence the argument for a detailed ultrasound scan at 18 weeks (routine UK
practice in most good centres is a dating scan either at booking (8-12
weeks), or when the Down's test is collected (16 weeks): PLUS, a detailed
'anomaly scan' at 18-20 weeks.
-----------------------------

3.a What is Down's syndrome?

3.a This chromosomal disorder is characterized by varying degrees of mental
retardation and an increased risk of physical defects. It occurs in about
one in six hundred births. The risk increases with the age of the mother,
but women of any age can give birth to a baby with Down's. Until recently
it was thought that a woman's age was the only indicator of Down's risk.
Measuring the amount of AFP, or better, the triple screen, and using this
information as well as age will give a more accurate estimate of the risk
of delivering a baby with Down's.

3.b Will this test detect all cases of Down's?

No. 25% of the cases of Down's will result in abnormal AFP, while 60% of
the cases will register as an abnormal triple screen.
-----------------------------

Addition by Dr. Tim Reynolds:

Above line incomplete:

The detection rate is dependant on maternal age: in young women (age
12-16), the average detection for a multi-marker test will be about 40-45%
and for an AFP only test, about 20% (There is NO SANE REASON for testing
for Down's using AFP only: this is completely superceeded by multimarker
testing). In older women the detection rate for the Down's screen is much
higher and can be up to 90-95% in women aged 45+. The 60% figure quoted in
most women's magazines is the average detection rate for a normal
population assuming all women are screened. If all women over 35 get an
amnio and only younger women are screened, the apparent success of the
screening test will look poorer: If only older women get screened, the
apparent success rate will look better (Many of the differences in
detection rates for different screening combinations can at least partially
be explained by age distribution differences in the study populations).
-----------------------------

4.a Will this test guarantee a normal baby?

No. Most defects are not detected by this or any other test. However a few
rare defects may be detected in addition to neural tube defects and Down's.
Some pregnancies which may be at increased risk for low birth weight and
prematurity are occasionally identified, as are some twin pregnancies. Note
that this identification does not come from the screen itself, but from
follow-up testing.

4.b How are the results presented?

The results may be presented in a number of ways. It is important to
understand what your numbers mean. Ask your caregiver to explain.

The triple screen might be given as a probability such as: "based on
maternal age your risk of Down's is 1/390 --- when the levels of AFP, HCG
and uE3 are also taken into account, your risk is 1/14000. Based on AFP
levels, your risk of neural tube defects is 1/1400."

Or the results might simply be positive/negative, or normal/abnormal. You
will probably want to know exactly what that means. Ask. In fact, there is
controversy as to what "abnormal" means. Try to find out what your lab
considers abnormal. They are working from the more detailed probability
information.

I think that it is becoming more common for the results to be given as
probabilities, which are more meaningful than a simple "positive/negative"
which is impossible to interpret. Probabilities can still be kind of scary
to interpret though.
-----------------------------

Addition by Dr. Tim Reynolds:

Probabilities can be very misleading and are often 'over-interpreted by
obstetricians as a way of avoiding doing amniocenteses. The usual risk cut
off in the UK is 1 in 300: Using this cut off about 1 in every 50 amnios
will yeild an abnormality. Some obstetricians use 1 in 150 as a cut off.
This halves the number of amnios they do. The rationale for using this cut
off is that the risk of abortion due to amnio is about 1 in 150. Since in
the 1 in 300 group you expect 1 in 50 amnios to give an abnormal result it
is evident that their argument is specious.
-----------------------------

5.a What should I do if the values are abnormal?

Your caregiver should recommend an ultrasound to get a more accurate dating
and to rule out multiple fetuses. Over 90% of the time, abnormal AFP values
are due to these or other benign factors. Then a second AFP test might be
run. If that is also abnormal, a more sophisticated ultrasound and
amniocentesis would be suggested. The diagnosis of neural tube defects
usually requires a combination of AFP testing, ultrasound and
amniocentesis. Diagnosing Down's requires amniocentesis, but an ultrasound
can be suggestive (see next question).
-----------------------------

Addition by Dr. Tim Reynolds:

It is best to get amnio first as this prevents the anxiety!
-----------------------------
Since time and worry can be an issue, perhaps you and your caregiver will
decide to get the more sophisticated level 2 ultrasound on the basis of one
abnormal test. This is something that you should discuss with your
caregiver.

5.b If my ultrasound is normal, does that guarantee a normal baby?

5.b No. The ultrasound exam, however. will identify the majority of defects
which cause a high AFP level. Factors such as the experience of the
ultrasonographer, the weight of the mother, the position of the fetus and
the quality of the equipment can affect its accuracy. In addition, there
are no reliable ultrasound findings for Down's.

However, Down's can be strongly suggested by an ultrasound because Down's
babies often have a certain body/face type. From one woman:

"There are, however, several characteristics that are common to Downs'
babies that a skilled ultrasound technician can look for. My technician
measured the femur (usually short in Downs' Syndrome babies), checked the
number of blood vessels in the umbilical cord (Downs' babies sometimes have
one fewer), checked the width of the forehead (usually wider for a Downs'
baby), and checked the heart (apparently, Downs' babies are more likely to
suffer from heart defects). A finding that none of these characteristics
are present does not guarantee a healthy baby, but it may provide some
reassurance, particularly in a case where the AFP reading is only
borderline low."

Here's some statistics about elevated AFP and normal ultrasounds:

     Physician-researchers at Boston's Brigham and Women's Hospital,
     after studying 87,584 pregnancies, reported that an elevated AFP
     [alpha-feto-protein] level in conjunction with a normal
     ultrasound scan implies a less than 0.1 percent chance that the
     baby will have one of the four most common birth defects. In
     light of the finding that amniocentesis itself carries a 0.5 to
     1.5 percent chance of terminating a pregnancy (Robin J.R. Blatt,
     Prenatal Tests), the researchers have concluded that "many women
     may choose not to have an amniocentesis when informed that the
     risk of pregnancy loss is substantially greater than the
     likelihood of finding an anomaly". (New England Journal of
     Medicine 323, No. 9, Aug 30, 1990)

6.a What are the benefits of the test?

It can help you make decisions about your pregnancy. If the results are
abnormal, and follow-up diagnostic testing shows defects, some women may
decide to terminate the pregnancy. For those who carry an affected baby to
term, the information can help in managing the delivery and early care of
the infant. This can improve the long and short term outlook for the child.
Sometimes when the AFP level is high, but the baby is normal, it is a
forewarning of later pregnancy complications such as prematurity or low
birthweight. Knowledge of this risk may alter the management of your
pregnancy.

There is recent evidence that shows that babies born with spina bifida may
benefit greatly from being delivered via cesarean section. So having a
cesarean in addition to other early intervention could significantly change
the outcome for such a child and his/her family. (the woman who told me
this could not find the source for reference. Your doctor might have more
information. I could not find anything on medline but I am a medline
novice.) [It looks equivocal. There is no consensus on this, and it may end
up being decided one way or the other--so the answer is, ask the doctor.]

6.b What are the risks of the test?

An abnormal result may cause considerable worry and concern. Since most
women with abnormal results will have healthy normal babies, you may decide
that the test is not worth the possible anxiety. Some statistics: about 5%
of women tested will have abnormal readings. About 90% of those will not
have affected babies, but have abnormal values because the dates were
calculated wrong, there are twins, or other reasons. So, for every 1000
women tested, about 50 will be told they have increased risk, and of the
50, about 45 or more will in fact have normal pregnancies. Some people feel
that the high level of "false-positive" readings make the test not worth
the risk.

The tests are relatively cheap. However, follow-up diagnostic testing is
not. These costs may be covered by insurance.

The test itself has no risk to the baby. The only risk to the mom is pain
from the blood draw. However, if the results are abnormal, you may wish to
opt for an amnio to relieve your worries. Amnio does carry a small risk of
miscarriage.

The test will not identify all cases of neural tube defects or Down's. The
problems for a baby with spina bifida range from the very minor to the very
severe. Generally speaking, the test detects only the more severe problems.
However, you may not be able to get exact details about the severity in any
particular case. This could lead to months of anxiety.

The AFP cannot be done until week 15 or 16, and takes about a week to get
the results. Followup amnio means even more waiting, so if termination is
decided, it will probably not happen until week 18 at the earliest. This
can be very difficult emotionally, and more difficult physically than an
early termination option with the CVS.
-----------------------------

Addition by Dr. Tim Reynolds:

Depending on the equipment your lab has, the result may be available within
24 hours. In my lab we are aiming for a 6 hour turnaround.
-----------------------------

6.c Should I have the screen?

No one can answer that but you. Making a decision means learning as much as
possible about the possible outcomes, and thinking about what you would do
in each case. Then ask: Will the results of the test (positive or negative)
change what you plan to do? If not, then there is no reason to have the
test and risk the anxiety that an abnormal result would bring.

I can tell you why I chose to take the test, and why my sister chose not to
have the test. Now these are only two of many stories. And I had a
reassuring result on the triple screen, (but no baby yet to confirm) and my
sister has two healthy babies. Perhaps our answers would be different in
hindsight if the situations were different. I am sure that many other women
have different reasons for electing or not electing the test.

I read everything I could about the test, including the two brochures my
midwives gave me. My husband and I discussed what we might do in case of
scary results. Given our personal views and our stages in life, we would be
willing to opt for the amnio, and potentially termination if the results
were very extreme. Extreme for us is probably something that is
incompatible with life. And if results were bad but not extreme, we would
find it helpful to know something in advance. We are planning a homebirth,
so knowing that there were problems with the child in advance, we would
change our minds and deliver in a hospital with a good neonatal unit. I
also think that the extra months of research and gathering of support
before birth would make it easier for me, my husband and our marriage to
prepare for a handicapped child. I am not yet old enough, nor are there any
familial factors, to be in a high risk category otherwise, so would not be
doing genetic testing unless the screen indicated a potential problem. So
we saw the test as useful information.

Plus, the midwives have been very clear about the nature of the test, and
assured me that a bad result should not be considered alarming. I trust
that if we had gotten bad news, we would have been given timely and helpful
information and referrals to specialists. I think that would help to
alleviate the inevitable anxiety of any possible result. My sister and her
husband have very different views. They would never consider termination
for any reason. So an abnormal result could mean months of anxiety, since
they would not consider the risks of the amnio to be worth it. Countering
my reason about knowing in advance and being able to get some information
and support before a baby with a defect is born, she would argue that since
it cannot tell you *how* bad the defect might be, it is still not worth the
worry.

7. Further Resources:

If your caregiver does not provide detailed description of what the test is
and is not, then you should complain. Everyone ought to get accurate
information before electing a test with such an emotional component.

Here are some books recommended by various people.

Sheila Kitsinger: _Your Baby, Your Way_ as a good general pregnancy guide
that has good section on AFP testing.
------------------
"I found a book in the local library on prenatal tests (again, we have
since moved so I can't give you a reference; however the title was
something like "Prenatal Testing: What You Need to Know") that actually
listed averages and ranges for the AFP levels at different points in the
pregnancy & gave some information on how those ranges corresponded to risk
of abnormalities."
-------------------
"I suggest that you refer readers to a terrific book on the psychological
effect on women of prenatal testing, _The Tentative Pregnancy_ by Barbara
Rothman. (This would go in your section 7, I guess). The book was written
before AFP became common, and deals with amnio for women 35 and over, but
is really very helpful.

The running theme in the book is how women planning amnio protect
themselves by not conceptualizing the fetus as 'their baby' -- even not
feeling it kick until after the amnio results are in. Hence the title. She
talked with women with a wide range of viewpoints, from "my sister-in-law
has Down's and I would have amnio no matter what my age", to "I could never
abort or risk hurting my baby, no matter what."

The book also covers borderline diagnoses (chromosomal abnormalities that
may or may not lead to problems), knowing the baby's sex (she strongly
recommends _against_ this), the roles of husbands, doctors, and genetic
counselors in the decision-making process, and how to minimize the negative
psychological effects throughout a tested pregnancy (e.g. don't fall into
the trap of thinking negative amnio == perfect baby).

Given my experience with an AFP Down's scare, I believe that the AFP
extends this tentative pregnancy most painfully to younger women in a way
that might be called 'the on-and-off' pregnancy. In the typical AFP scare
for a woman younger than 35, you are tentative in the first trimester
because of the risk of miscarriage, then you get un-tentative and the fetus
becomes a baby to you. If your AFP then indicates a high risk of Down's,
overnight you have to distance yourself from the pregnancy again in case
you have a bad amnio result. By this time your baby is kicking, of course.
Then finally your amnio is fine, and you can go back to feeling really
pregnant again. This roller-coaster is a nightmare!

Rothman does point out that AFP can save older women from the trauma of
amnio if their results are normal."
-----------------------

8. Some stories from women on misc.kids who have had the screen.

--------------------------
I had a borderline low (whatever that means!) AFP result when I was
pregnant for the third time. I had miscarried just 2 months before
conceiving, so I was considered at somewhat higher risk for problems
(according to one of the 5 doctors in the group practice I went to; the
others did not feel that conceiving so soon after miscarriage constituted a
measurable risk). I was told that the risk of Downs was about 1 in 270, and
the doctors recommended amniocentisis. I did not want to have amnio,
primarily because of the recent miscarriage. I requested a second AFP test,
and they gave it to me, although they said that their policy was to only
offer a second test when the initial result was high. This is because the
AFP level normally increases during this period & a somewhat higher level
with re-testing would be expected. However, since the results are
interpreted in light of how far along the pregnancy is, I reasoned that a
re-test might provide meaningful information. The re-test was normal (risk
of Down's reclculated at about 1 in 780, which was consistent with my age
at the time). I also had an ultrasound at this point and the technician
checked for several characteristics that are common to Downs' Syndrome
babies. She found none, and after that I was able to relax & not worry
about the AFP test. I gave birth to a healthy baby boy. Carol Fischer
(cfischer@sbu.edu) Mom to Katie (2/12/89) & Mark (8/3/92)
-----------------------------
Personal anecdote: since ultrasound and AFP are non-invasive, we decided to
take the AFP. We would not have done so had the only folllow-up possibility
been amnio, since the relative risks were not worth it to us for neural
tube defects. If an ultrasound showed a neural problem, we might then
consider amnio. For Down's, we would not take amnio as this doesn't
indicate severity, we were told, merely incidence. We therefore would not
terminate a Down's child, so considering relative risks, amnio wasn't worth
it (I was 28, so low risk).) Gail Anderson
-----------------------------
We went through an AFP scare during my first pregnancy (a low result on the
triple screening test, indicating a slightly increased chance of Down's
Syndrome). I had let them do the blood test without really thinking about
the consequences (and without realizing that I could have refused it); we
had just assumed that the results would be normal, just as we assumed (also
erroneously) that everything else would be fine with the pregnancy too.
After we got the results back, we spent several days agonizing over what to
do but then finally decided against the amnio because we weren't willing to
take even the small risk of anything happening to our baby. Sadly, I lost
the baby a few weeks later due to my incompetent cervix; she was very
premature and couldn't survive on her own, but she was perfectly healthy
and did *not* have Down's.

For my second pregnancy, we decided right away to refuse the AFP test.
Based on our first experience, we now know that there is a high risk of a
false positive result (in other words, a good chance that the test will
indicate a possible problem even when the baby is perfectly healthy). We
knew that we would once again refuse to do an amnio for the same reasons as
last time (and felt even more strongly about that once we found out that I
was carrying twins, since a twin amnio is even more complicated and risky
than a single baby amnio). To us, it just wasn't worth the risk of having
another abnormal AFP result hanging over our heads for half the pregnancy,
even though we knew that probably the results would come back normal and
thus be reassuring to us. Thomas and Alison were born August 7, 1993, and
were both perfect and healthy.

We feel strongly that every pregnant woman should be given this kind of
information in order to make an educated decision for herself -- not just a
decision of what to do if the AFP test comes back abnormal, but first a
decision of whether to even take the AFP test!

Amy McNulty
amy_mcnulty@vos.stratus.com
--------------------------------------
"I am four and a half months pregnant with my first child and had a
terrible experience with this test a couple of weeks ago. My doctor phoned
me at 7 pm one night and said that my AFP test results had come back VERY
abnormal and that I had a one in 17 chance that I was carrying a Down's
Syndrome baby. After repeatedly telling me that he didn't do abortions
(unsolicited info), I was scheduled for an emergency ultrasound, which
fortunately appeared fine. More importantly, my doctor then told me that
based on the ultrasound dating, my AFP test results were recalculated and
came back normal (I had been instructed to take the AFP too early--at less
than 15 weeks, and the lab was told I was at 16 weeks at test time). I am
angry because this doctor miscalculated my due date, which is what caused
the error (I have been very certain about my dates all along) and at his
alarmist attitude. I'm also angry because several of the books I was
frantically consulting during the sleepless nights after his phone call had
misleading info. I am now consulting a new doctor and feel better about my
own situation, but my confidence has been shaken and I'm sure there are a
lot of other people who have been through similar traumas."
---------------------------------------
At about this time last year, I had my AFP test. It was a little high. (we
had taken a cvs test, so we knew that down's was not a problem. wouldn't
you know it would come back high -- spinal and nerve problems are
definitely not covered by the cvs test.) I was told by my doctor that when
the test registers near the border line in either direction, that the
likelihood of a problem is smaller. Their policy was to give another test,
and if the results were duplicated, look for alternative means of
determining whether a problem exists. In my case, the results came back
high again. They still reassured me that the likelihood of a problem was
small. I then had a Level II ultrasound which indicated that there was a
99.5 chance that nothing was wrong. I was satisfied with that. I now have a
healthy baby girl.

My sister also had AFP test oddities. Hers, like yours was low. She had
opted not to have an amnio since she was not planning to do anything if
there was a problem, and was extremely worried about miscarrying. My mother
then spent the next several months worrying about her grandchild-to-be. My
sister, after the initial shock, was more fatalistic about the whole thing.
She also has a very healthy, normal little girl. (I began to wonder when I
got my own weird results if weird AFP results ran in families!)

My point? I think that the AFP test has a lot of false results. Try not to
worry too much. I tried to get as much information as I could at the time,
(most of the details of which I have forgotten) but remember being really
surprised that the test was as unreliable (and popular!) as it was.

I remember all that I went through while waiting to find out if every thing
was okay. At first I was really sorry that I had taken the test especially
since I was going to proceed regardless of the test results. Later, I
realized it might be better for my baby if I knew there were problems in
advance. That way if the baby required any special treatment, or having a
c-section or whatever, I was prepared and so were the doctors.

I know what a difficult time this is. But you're right - take it a day at a
time and try not to worry too much -- I think the odds are in your favor.

Good luck.

suez@stdavids.picker.com (Susan Zemel)
-----------------------------
I'm 31 years old and expecting my second child. I took the AFP when I was
pregnant with my first and the results were normal. About two weeks after I
took it this time, I got a call from the advice nurse with my OB practice,
and she indicated that I had a 1/120 chance of having a baby with Down's
Syndrome, based on the test. I was in such shock that I didn't really know
what questions to ask. She told us that my test was most likely indicating
a false positive, but that the only way to be certain was to have an
amniocentesis. She said could set up an appt. with a genetics counselor and
asked if I was interested in having the amnio. I numbly replied "yes". At
this point, I didn't think to ask for a re-test, or ask for more detailed
information. When my husband called her back the day before our appt. with
the geneticist to ask questions, she was quite nonchalant! Very disturbing!

We saw a genetics counselor, who explained the risks of Down's Syndrome for
the average woman my age and my risk as indicated by the test. I was
immediately suspicious when she explained that the dates used in testing
were based on LMP. I felt that my "real" dates differed from LMP dates by
about 4 days (LMP indicated I was farther along than I was). The geneticist
re-ran the calculations, just to see what the risk would have been had I
been not quite as far along in the pregnancy (by 1/2 week). The risk in
that case was only 1/280, and they consider anything better than 1/200
normal.

So, we had a Level II ultrasound, which confirmed the LMP dates to within a
week. The doctor (a perinatologist (sp?), not one of the OB's in my
practice) said she couldn't change the date used to calculate my risk of
Down's since the ultrasound confirmed the date _within the accuracy of the
ultrasound_. Luckily, there were no indications of Down's from the
ultrasound. My husband felt very reassured at that point that nothing was
wrong, but I really needed to know for sure. So, we also opted for the
amnio. Amazingly, we found out the results in only a week (rather than the
2-3 weeks the advice nurse had originally told us). Our baby girl is not a
Down's baby!

If/when we have another baby, we plan NOT to take the AFP. The anguish we
went through was horrible and we were really lucky not to have to wait so
long for the results of the amnio. The AFP is so imprecise that 1/2 week
meant all the difference in terms of dating the pregnancy. I'm not
surprised that it commonly gives false positives. I'd much rather have a
Level II ultrasound on the next go-round and skip the AFP.

Laura Weaver
laweaver@ralvm29.vnet.ibm.com
-----------------------------------------
Here's another horror story with a happy ending.

I wasn't sure whether I wanted to have the AFP test. I had read the FAQ and
saw all the people on the net who had had false alarms with it, so I talked
to my Dr. about it for a long time. She recommended it, but said I didn't
have to have it. I asked if the triple screen was available, figuring that
even if one of the numbers came back alarmin, that the other 2 numbers
might provide enough information so that I wouldn't have to have an amnio.
She said it was available.

After wavering back and forth for a month, I decided to go ahead with it.
So at 17 wks I had the triple screen. The nurse told me they were moving in
the direction of phasing out AFP only and doing all triple screen.

Well, you guessed it. The next week my Dr. called and told me that based on
the test my chances for Down's were 1 in 180 rather than the 1 in 800-or-so
that they should be for my age. The AFP number and the estriol number were
normal, but the HCG number was 3 and a half times the median.

Luckily I was able to get an appointment the next day for the level 2 U/S
and possible amnio. I was still hoping to avoid the amnio, and I figured
that they could look for signs of Down's on the U/S.

When we got there, the genetic counsellor told us that the HCG value was
the most sensitive of the 3 numbers - that a Down's baby could cause that
number to go up and leave the other numbers in the normal range. Also the
perinatologist told us that most Down's babies look normal on U/S. She
would increase someone's risk estimate if she saw certain things on U/S,
but she would never decrease it based on not seeing anything abnormal.

I think I was under the U/S for about a half hour. No signs of Down's were
seen, which made me feel a little better, but based on the stuff above, we
decided to have the amnio. The procedure itself wasn't that bad. It pretty
much felt like getting a shot or getting blood drawn, although I could tell
when the needle hit my uterus. But I was terrified because there is about a
1 in 200 chance of losing the baby this way, through the water breaking or
through infection. They said any fluid problems would occur within 48
hours, but an infection could develop slowly over 2 weeks, and the baby
could die without my noticing anything wrong. They told us it would be
10-14 days before the results were ready.

I was relieved after a couple days when I hadn't had problems. One bad
possibility down and two to go. Then the agonizing wait for the results. I
was terrified every time my phone rang. But then luckily on the last day
before we were to leave town on vacation, I got the call with good
results!!! Two down and one to go. We weren't sure whether we wanted to
know the sex early, so I told them to put it in an envelope and send it to
us so we could decide later if we wanted to open it.

Every day on vacation I made sure I could still feel the baby move, and my
Dr. heard the heartbeat at my next appointment, past the danger time for
infection. Whew!

I guess all's well that ends well, but I'm a little upset that despite how
informed I was about the AFP and all, that I still went through exactly
what I was trying to avoid, and that I put my baby at risk. It seemed like
each individual decision that we made, made sense by itself, but when you
look at the whole experience it was a series of escalating interventions,
which is the same thing I'm afraid of happening to me in labor. In fact, I
feel like I started it, since if I hadn't said anything, I would probably
have just had the AFP alone, which was normal, and not had to go through it
all. Maybe the risk of false alarms and amnios is just the price that has
to be paid by people like me who want to know early if anything is wrong.

Physically this has been an easy pregnancy for me so far. I didn't have bad
sickness in the beginning, and I've felt great all through this 2nd
trimester. But emotionally it has been very difficult, first with two
spotting scares early on and now this. I just want the baby here and safe.

On a lighter note, I got some more U/S pictures of the baby, including one
of it sucking its thumb. They said the baby was really active.

Now we've got the envelope with the baby's sex written in it, sitting at
home tempting us. I found out they told my Dr. the sex, too, and it's right
in my chart! She didn't know I didn't know, so it's a good thing I
mentioned it before she let it slip.

I just don't know if I want to know ahead of time or not. Part of me thinks
it's silly not to look at the information that's available. But on the
other hand, if we knew then it would be hard to keep the secret from
others, and I don't want to get sexist gifts like clothes with pink frills
or footballs. The knowledge of the gender can be misused for sexist
inculturation, so maybe it's an advantage for the baby to stay
gender-neutral, at least while we're shopping for nursery stuff and
clothing. I'm trying to think of advantages and disadvantages either way.

Anyway, for those of you who have read this far, thanks for listening, and
celebrate with me that this scare is over!
-----------------------------------------
About two weeks ago you emailed the Prenatal Testing FAQ to me and I wanted
to say thanks. After reading the FAQ I decided to take the MsAFP because my
husband and I felt like if something was wrong, either downs or a neural
tube problem, we would want that information now vs. after delivery.

My test came back with a 1/127 risk of a neural tube defect. (I'm 33 years
old.) I got the results from the perinatologist last Thursday afternoon and
was scheduled for a level-2 ultrasound for 8:30 a.m. the next morning. (I
was lucky I didn't have to wait over the weekend with all the worry and
anxiety! That part was tough.)

During the ultrasound we discovered that we have a healthy baby girl on the
way! Her spine, brain, and all other organs are just fine. The ultrasound
lasted about 30 minutes and seemed to me to be very thorough. (We also got
some great pictures of the baby yawning too!)

If I have another child, I would still take the AFP screening. My husband
and I are not against abortion and would consider it if we knew there would
be serious health problems that would not allow the child to have a normal
existance.

Thanks again for the FAQ.
-----------------------------------------

I wished I had read your FAQ on Pregnancy AFP screening. Perhaps it would
have saved my husband and I a lot of needless anguish.

I had the AFP screening done when I was 18 weeks pregnant with my son,
Brandon, now 8 1/2 months old. Instead of my doctor informing me of a
positive high result, I received a letter in the mail from the County
health department to call this number ASAP due to an abnormal test result.
The wording was very strong and frightening. To make matters worse, the
letter arrived on a Saturday and my OB was out of town. When I called on
Monday morning at 8 AM, the nurse told me to come immediately for genetic
counseling and that she'll set up an appointment the next morning for an
amnio. I just about fainted with the news. In tears, I called my husband
and was barely coherent. Together, we agreed to go to the counseling center
immediately. Once we got there, they told me that I had a 1 in 200 chance
of having a baby with one or more of Down's, spina bifida or anecephaly (no
brains). However, if I do have the amnio, there was a 1 in 100 chance that
I'll miscarry.

We went home that day more frightened that I've ever remembered in my life.
My because neither one of us drink or smoke. However, I (both) realize that
if I don't have the amnio, I'll probably have a nervous breakdown by the
time I deliver. The next morning, we reluctantly returned for the amnio
procedure. I don't know about the others' experiences, but my amnio HURT
like hell! Furtunately it was over quickly. I experienced some leaky fluids
vaginally the first 2 days and had to remain in bed for the remainder of
the week. Once we were over the chance of a miscarriage (the first 72
hours), now we had to wait another 2 weeks for the amnio results.

We were elated when they called to inform us that all the tests came back
negative and that we were having a boy. The rest of the pregnancy went by
fast. Our healthy son was born weighing in at exactly 8 lbs.

Thinking back, I fault the doctor's office for not calling us with the
results first and for not informing us of the high probablity of a false
positive. By the time the genetic counselor showed up in the picture,
neither my husband nor I were in the proper mental state to consciously
interpret the given information. All we could do was focus on the
possibility of having a deformed child. My advise to all expectant parents
is to be informed as to why blood tests are

done and what the ramifications are for any and all results.

If we plan to have another child, I'll definitely skip the AFP test.

Anna Tseng anna@sunfse.ese.lmsc.lockheed.com

P.S. I found out later that the state of California paid for the amnio
($2100) and the genetic counseling ($250). When I asked my OB why the state
would pick up the tab and not the insurance companies, he told me that the
state is just hedging its bet that expectant parents would abort deformed
fetuses rather than carrying the babies to term and the state would then
have to foot the bill for the care of these babies. The most disturbing
news from my doctor is that the state is also using the AFP blood samples
to test for HIV/AIDs for their studies
-----------------------------------------

In May of 1995, I was 18 weeks pregnant and reluctantly had the triple
screen test done as we live in an area with a lack of facility that would
deal with a problematic birth. I was 37, hypertensive, and gestational
diabetic. I am vigorously pro-life and only had the test with the safety of
the baby's birth in mind. My test came back 1 in 8 chance of Down Syndrome.
An ultrasound was inconclusive but did show a borderline smallness of the
femur, and borderline thickening of the mucal fold. I refused the
amniocentesis. On October 8 I gave birth via c-section to a beautiful boy
with D.S. He scored a 9 on the Apgar. He recently had an ASD repair. He has
numerous vision problems but is not blind. I think triple screens are
terrible to suggest to pro-life mothers. I think they may cause genocide of
our Down's babies at the hands of insurance companies. The only good thing
about the triple screen was that we were not shocked at Andy's birth. He
came into the world with parents very well informed about Down Sydrome. We
were able to start vitamin/Piracetam therapy very early. My suggestion is
if no other supplement be given, give zinc. We have never yet had any
infections or antibiotics. Thank you for giving me a soapbox. Sincerely,
Ann Marsilio at Marsilio@ccomm.com

-----------------------------------------

I just found your FAQ on the triple screen and have been reading it with
interest. Four days ago I had a triple screen for my current pregnancy, and
am awaiting the test results (the doctors says a week to ten days; being in
a rural area, we don't get the quick lab service that metro areas do).

Five years ago, with my first pregnancy, I had the AFP test done. At the
time I was visiting my parents in Cleveland, OH, because my father had just
been diagnosed with cancer. I had the AFP test done there, and when I
returned to Maryland a few days later (home), the doctor's office called to
tell me the result was high. My OB immediately scheduled me for an
ultrasound -- I went from work, by myself, and wasn't told ANYTHING by the
technician except "get dressed and go see your OB." I did, and she told me
the baby was grossly anencephalic. She suggested termination, since the
likelihood that I would carry to term was slim, and that even if I did, the
baby wouldn't survive.

This was the Monday before Thanksgiving. They could not schedule me for
induction and delivery until the following Monday because of the holiday.
After twelve horrible hours of labor, I delivered the baby which was indeed
anencephalic. There had been no previous history in our family. My OB was
wonderful through all of this, but unfortunately the insurance company was
not: they refused to pay for anything more than an "abortion," even though
I had had a vaginal delivery (and by the time I delivered was at 19 weeks).

Eleven months later I delivered a healthy baby girl. I also had an AFP
screen and several ultrasounds with her. I am now pregnant again. Being in
a rural area with decreased access to sophisticated medical screening has
been tough, but I am hopeful that this pregnancy will progress normally.

If you can use my experiences, please do. I would hate for anyone to have
to go through what I went through, but ultimately, it worked out for us.
Because we terminated that first pregnancy, my father was able to have his
first grandchild with him for six months before he died.

Janet Szabo woolcol@digisys.net

-----------------------------------------
We had the AFP. Our luck, it signaled 60-1 chance of Downs. We did not know
what to do. Our doctors pushed, rather heavily persuaded us, to take the
amnio. The procedure was ok, the two week wait was a nightmare. The stress
was unbelievable. All said and done things turned out ok. However, my wife
was only 30, me only 33, the test was not necessary, yet we felt a bit
coerced into it by the doctor and that nice little State issued AFP program
pamphlet. The stress and total upheaval it caused was undescribeable. Our
life was on literal hold for two weeks +! Not only that, we did not even
delve into the options.

This has been a tough time. I lost both parents young but never thought I
would have to suffer such stress. Moral of the story: Unless you are over
thirty five or have some other risk, seriously consider the value of the
test which, fortunately comes out with false positives more often than not.
The final result, everthing ok, however, it changed my life. I respect my
wife, life, and all that is around me more than ever.

Christian in California eastriv@deltanet.com

-----------------------------------------
I am 29 years old, and I am currently 21 weeks pregnant with our second
child. Noah, our first child, died during my pregnancy (at 26 weeks) of
Prune Belly Syndrome, an anomoly which afflicts only one in 40,000 births.

I had the AFP test done at 15 weeks with our son, Noah, and it showed
nothing. I thought that it meant we would have a healthy baby. Then I had
the triple screen done at 15 weeks in this pregnancy, and it came back
showing I had an increased risk (1/44) for the baby to have Downs Syndrome.
Considering those odds, natrually, we were devastated. Not certain that we
could deal with Downs for either ourselves or our child, we opted to do
amniocentesis and find out for sure.

We had, ironically, just had an ultrasound three days before the triple
screen results came in to check for signs of Prune Belly, and had seen what
we and the doctors had thought looked like a beautiful baby (girl, they
thought). The ultrasound did not show any "red flags" that would make them
believe we had a baby with Downs. After what seemed, of course, to be a
lifetime, we found out (in only 8 days!) that she was fine (it is a girl).
I had gone ahead on the advice of my very optimistic husband and gone to my
sisters to pick up baby things and got the call on a Friday at 4 p.m. I had
only been home from my sisters for 20 minutes. That made for a nice
weekend!

If we ever dare to try having another child, we will do the triple screen
again because we want to know, if possible, exactly what we are up against.
I can, however, sympathize with those who will not do the AFP or triple
screen to save themselves the terror. Finally, I can only say that these
tests do not tell us everything, but they can prepare us for some very
scary things, and also, that they cannot guarantee us that our babies will
be born perfect. Charlene Worley Bruner pyard@mindspring.com

-----------------------------------------
I became pregnant a few years ago and my midwife suggested taking the AFP
test. It came back with odd results, suggestive not of Down Syndrome but
something I believe was called Trisomy-13. So I had a Level II ultrasound,
which also indicated some possible problems. The baby's head seemed rather
too large in proportion to the body size, and neither the head nor the body
seemed to be the size it should have been for the gestational age. So, to
make a long story short, I had amnio and the results came back with
triploidy. Basically, this means that instead of pairs of chromosomes, this
baby had triplets of them - 69 in all. It was an abnormality incompatible
with life, as they say.

I was urged to have labor induced, because for some reason mothers of
babies with this condition often get toxemia if they try to wait for labor
on their own. I did, and it was a horrible experience. If I had it to do
over again (as I never hope to do) I don't know that I would have labor
induced, even at the risk to my own health. Plus, because the baby looked
relatively normal, my mother has never been convinced that there was
anything actually wrong with her. I was urged in this pregnancy to have
amnio due to my age and my history, but I wanted to have the other tests
first since amnio carries some risks and since it was so painful before.
This time my AFP test results came back with a risk of Down's and the other
disorders compatible with a 20-year-old's. My Level II ultrasounds have
also been fine, and we found out that I am carrying a boy! So while these
tests are not 100% reliable, the combination of results makes me feel
reasonably good about the pregnancy.

Sandy Conley conley.149@osu.edu

-----------------------------------------

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