Advice/support needed

Hello,

I have a very good friend who is due in November (as am I), who had
something called the "First Look" testing done a couple weeks ago. The u/s
looks for a skin flap in the back of the neck, and it detected nothing. The
blood work looks for blood protein levels, which came back low- apparently
anything below 240 is not good and hers is 160. The nurse did not do a very
good job explaining exactly what it all meant, and she was in shock, so
couldn't ask questions well at the time. She is still waiting to talk to the
doctor. Does anyone here know what the blood protein levels indicate? And is
160 really bad, or can it be normal? Could it just be because of her age
(37)?

TIA for any clarification.

Erin

Steve & Erin wrote:

Hello,

I have a very good friend who is due in November (as am I), who had
something called the "First Look" testing done a couple weeks ago. The u/s
looks for a skin flap in the back of the neck, and it detected nothing.

This is a nuchal translucency test, which is used
to screen for Downs Syndrome. It is not a diagnostic test
(you can only diagnose DS with an amnio or CVS), but it
does help identify a population at higher risk who might
benefit from more invasive testing.

The
blood work looks for blood protein levels, which came back low- apparently
anything below 240 is not good and hers is 160. The nurse did not do a very
good job explaining exactly what it all meant, and she was in shock, so
couldn't ask questions well at the time. She is still waiting to talk to the
doctor. Does anyone here know what the blood protein levels indicate? And is
160 really bad, or can it be normal? Could it just be because of her age
(37)?

This was probably the triple screen, which does not
look at blood protein levels. It looks at maternal serum
AFP (alphfetoprotein), estriol, and hCG levels. These are
screening tests for Downs Syndrome and neural tube defects.
When the AFP is low, that means she is at increased risk
for Downs Syndrome. The 240 and 160 are likely odds. They
define a "positive" screen as anything less than a 1 in
240 chance of having DS. This number is almost *completely*
arbitrary. The only reason they chose it is that it's
roughly the same as the risk of having a miscarriage from
having the amnio done to see for sure if the baby has DS.
A result of 160 means that the screen indicates a 1 in 160
chance of the baby having DS. If you turn that around, that's
a 99.4 percent chance that the baby is PERFECTLY HEALTHY.
In addition, the triple screen (because it is just a screening
test) has a very high rate of false "positives." The vast
majority of babies who screen positive do not have DS.
Given her age, it was almost guaranteed that she would
screen positive on the triple screen.
In other words, she absolutely should not worry.
The odds are very, very high that her baby is completely
healthy. At this point, she can do one of three things:

1) Decide the odds look good enough to her that she
does not want to follow through with invasive testing.
This makes sense especially if she would not consider
terminating the pregnancy if the baby had DS. While
having an amnio would tell her for sure if the baby had
DS and would give her time to prepare, odds are that
it wouldn't improve the health of the baby significantly
and the amnio does bring about a 1 in 200 chance of
miscarriage.

2) Decide that she wants further non-invasive testing.
They can do a more detailed ultrasound that can spot
some other soft markers for DS. This is not definitive.
You can't diagnose DS for sure or eliminate it for
sure with an ultrasound; however, if the u/s showed
no markers, the odds would tip in favor of no DS, and
if the u/s detected markers, the odds would tip more
towards the baby having DS. After knowing that, she
might decide to skip the amnio or go ahead with it.

3) Decide that she wants an amnio to know for sure.

Amnio is the only way to know for sure whether the
baby has DS, but you also have to take into consideration
the risks and what you would do with the knowledge once
you have it. If you wouldn't do anything different, then
the information may not be worth the risk to the baby.

Best wishes,
Ericka