From: gazissax@netcom.com Newsgroups: misc.kids.info,misc.answers,news.answers,misc.kids.pregnancy Subject: misc.kids FAQ on the Pregnancy AFP Screen and the Triple Screen Followup-To: misc.kids.pregnancy Approved: news-answers-request@MIT.EDU, kids-info-request@ai.mit.edu Reply-To: gazissax@netcom.com Summary: The FAQ discusses the AFP Screen and the Triple Screen, prenatal tests which are used to screen for Down's syndrome and neural tube defects. Archive-name: misc-kids/pregnancy/screening/AFP Posting-Frequency: monthly Last-Modified: January 4, 1999 ------------------------------------------------------------
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.]
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.
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".
-----------------------------
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 phosphataseThe 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.
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.
-----------------------------
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.
-----------------------------
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.
-----------------------------
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.
-----------------------------
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.
-----------------------------
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)
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.
-----------------------------
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."
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
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)
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
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!
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
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 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 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
-----------------------
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.
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.
-----------------------------
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!
laweaver@ralvm29.vnet.ibm.com
-----------------------------------------
Here's another horror story with a happy ending.
-----------------------------------------
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.
-----------------------------------------
-----------------------------------------
-----------------------------------------
-----------------------------------------
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.
-----------------------------------------
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 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.
-----------------------------------------