very elevated amniotic fluid AFP- normal U/S, echo, etc.

Hi the

My wife had an elevated blood AFP (5MoM) followed by amnio at 18 weeks
which also showed a high AF AFP (16MoM). 3 ultrasounds have
definitively ruled out neural tube defects; chromosomal analysis is
negative for Downs or similar syndromes.
I am an MD myself (different specialty) and we dont have a definite
idea what is wrong here. A possibility is something called congenital
nephrosis of Finnish type, but it is a very rare condition, and we are
not the right ethnicity. I am wondering if anyone here has had an
experience like this or know of someone who has, and what the
pregnancy outcome was. If the AFP levels were lower in the amnio, we
could have thought that this was some kind of false positive result,
but this level seems too high, so that inspite of normal US, echo,
chromosomal results, we are quite worried.

Any and all opinions are welcome.

Thanks for your time.

Someone wrote:
My wife had an elevated blood AFP (5MoM) followed by amnio at 18 weeks
which also showed a high AF AFP (16MoM). 3 ultrasounds have
definitively ruled out neural tube defects; chromosomal analysis is
negative for Downs or similar syndromes.

Okay, I will try to help. My little girl, now a thriving toddler, was
born with a fetal tumor for which AFP is an important marker, so I
know a little about it.

First, you are entering into the realm of "whatever it is, it is
really rare" so I recommend you make a point of obtaining copies of
all laboratory test results and radiology reports. That is because
the likelihood of mistakes is large relative to the likelihood of any
one rare problem that gives an elevated AFP. Being an MD yourself,
you probably already know to do this.

Maternal serum AFP varies with several maternal factors, including
race and age. And it varies *hugely* with fetal age. So are you 100%
sure about the baby's gestational age? Double check that both AFP
results give the correct gestational age for the date when the sample
was drawn. Double check that the risk factors are correctly stated on
the AFP order form and/or the report.

Re chromosomal analysis, have you had only the basic check for the
correct number of chromosomes? Or have you had the more detailed
check that all chromosomes are intact? How many bands were looked at
(it should be hundreds). Do you know the baby's sex from
ultrasounds? Does it match the chromosome test result? Does the
chromosome test result mention an excess of maternal blood in the
sample? One source of error in chromosome tests is mistaken analysis
of chromosomes from the mother, not the baby.
If the baby is a boy on ultrasounds and the chromosome analysis says
the same, you have little to worry about on this count, but if the
baby is a girl you don't know for sure they looked at her chromosomes
and not your wife's.

If you don't mind sharing, what were the actual values of AFP in
maternal serum and amniotic fluid, by gestational age?

I would rather not scare you (and perhaps other readers here) by
discussing the many medical conditions that can cause very high MS and
AF AFP, until I am convinced the AFP values you are seeing are in fact
very high. Does that seem fair?

Pologirl
2004 Monkey Boy
2006 Hungry Girl

Thanks Pologirl for the long reply.

Here are the details:

MS-AFP at 15.9 weeks= 5.2 MoM
(other markers PLAPP, HCG, Inhibin, etc normal)

Amnio at 18 weeks:
AF-AFP= 16.29 MoM
AchE= negative
FISH chromosmal test (the quick test)= normal
Regular chromosomal analysis= normal, XY (male, as in US)

Also,
Nuchal normal at 11.5 wks, Level 2 USs at 17.5 weeks and 21 weeks
normal (no NTDs, no abdominal wall problems and no obvious placental
problems), Fetal echo normal at 21 weeks

We are quite sure abt the gestational age, confirmed by US at 7
weeks.

Thanks again.


On Oct 28, 11:24 pm, Pologirl wrote:
Someone wrote:
My wife had an elevated blood AFP (5MoM) followed by amnio at 18 weeks
which also showed a high AF AFP (16MoM). 3 ultrasounds have
definitively ruled out neural tube defects; chromosomal analysis is
negative for Downs or similar syndromes.

Okay, I will try to help. My little girl, now a thriving toddler, was
born with a fetal tumor for which AFP is an important marker, so I
know a little about it.

First, you are entering into the realm of "whatever it is, it is
really rare" so I recommend you make a point of obtaining copies of
all laboratory test results and radiology reports. That is because
the likelihood of mistakes is large relative to the likelihood of any
one rare problem that gives an elevated AFP. Being an MD yourself,
you probably already know to do this.

Maternal serum AFP varies with several maternal factors, including
race and age. And it varies *hugely* with fetal age. So are you 100%
sure about the baby's gestational age? Double check that both AFP
results give the correct gestational age for the date when the sample
was drawn. Double check that the risk factors are correctly stated on
the AFP order form and/or the report.

Re chromosomal analysis, have you had only the basic check for the
correct number of chromosomes? Or have you had the more detailed
check that all chromosomes are intact? How many bands were looked at
(it should be hundreds). Do you know the baby's sex from
ultrasounds? Does it match the chromosome test result? Does the
chromosome test result mention an excess of maternal blood in the
sample? One source of error in chromosome tests is mistaken analysis
of chromosomes from the mother, not the baby.
If the baby is a boy on ultrasounds and the chromosome analysis says
the same, you have little to worry about on this count, but if the
baby is a girl you don't know for sure they looked at her chromosomes
and not your wife's.

If you don't mind sharing, what were the actual values of AFP in
maternal serum and amniotic fluid, by gestational age?

I would rather not scare you (and perhaps other readers here) by
discussing the many medical conditions that can cause very high MS and
AF AFP, until I am convinced the AFP values you are seeing are in fact
very high. Does that seem fair?

Pologirl
2004 Monkey Boy
2006 Hungry Girl

Thanks Pologirl for the long reply.

Here are the details:

MS-AFP at 15.9 weeks= 5.2 MoM
(other markers PLAPP, HCG, Inhibin, etc normal)

Amnio at 18 weeks:
AF-AFP= 16.29 MoM
AchE= negative
FISH chromosmal test (the quick test)= normal
Regular chromosomal analysis= normal, XY (male, as in US)

Also,
Nuchal normal at 11.5 wks, Level 2 USs at 17.5 weeks and 21 weeks
normal (no NTDs, no abdominal wall problems and no obvious placental
problems), Fetal echo normal at 21 weeks

We are quite sure abt the gestational age, confirmed by US at 7
weeks.

Thanks again.

My daughter was born with a sacrococcygeal teratoma but it was
unnoticeable, it was not noticeable in the morphology scan either.

It wasn't noticed untill the tumor started to grow at approx 5 weeks
of age (to where it was the size of a pea) at the age of her operation
(9 weeks) it had grown to the size of an olive.

The reason why her tumor was not picked up was becuase it had a faulty
blood supply - hense it hadn't really grown at all. (well not untill
after birth)

I have no idea how it works exactly but I often wonder if they would
have done an AFP level on either myself or an amnio if they were able
to pick it up.


Amanda-Jane






On Oct 30, 9:15 am, wrote:
Thanks Pologirl for the long reply.

Here are the details:

MS-AFP at 15.9 weeks= 5.2 MoM
(other markers PLAPP, HCG, Inhibin, etc normal)

Amnio at 18 weeks:
AF-AFP= 16.29 MoM
AchE= negative
FISH chromosmal test (the quick test)= normal
Regular chromosomal analysis= normal, XY (male, as in US)

Also,
Nuchal normal at 11.5 wks, Level 2 USs at 17.5 weeks and 21 weeks
normal (no NTDs, no abdominal wall problems and no obvious placental
problems), Fetal echo normal at 21 weeks

We are quite sure abt the gestational age, confirmed by US at 7
weeks.

Thanks again.

In misc.kids.pregnancy, Amanda-Jane wrote:
My daughter was born with a sacrococcygeal teratoma but it was
unnoticeable, it was not noticeable in the morphology scan either.

It wasn't noticed untill the tumor started to grow at approx 5 weeks
of age (to where it was the size of a pea) at the age of her operation
(9 weeks) it had grown to the size of an olive.
[...]
I have no idea how it works exactly but I often wonder if they would
have done an AFP level on either myself or an amnio if they were able
to pick it up.

Hi Amanda-Jane.

Do you have the pathology report on the tumor, from after surgery?
If the pathology was pure teratoma, the odds are close to 100% that
your baby's tumor produced no AFP, so any prenatal AFP tests would
have been normal.

Are you having her AFP checked regularly? That is very important,
even for a "benign" teratoma.

Una