Genetic Markers on 18 week ultrasound vs. blood test

My wife (age 33) went in for 18-week ultrasound last week. The doc talked to us about 2 'markers' he found that could indicate genetic problems with the fetus. The two markers were:

Mild hydronephrosis
Echogenic foci in the heart

Looking online, these two together are a pre-indicator of Downs'.

The doc wanted to wait for the results of the blood test & next ultrasound (3 weeks) before commenting further. We just got the blood results back:

AFP Test
Trisomy 21 ~ 1/4200
Trisomy 18 ~ 1/9371

Does anyone have experience with this type situation? Are the blood results a better indicator than the ultrasound 'markers'?

TIA to all!

[cinnamonheart]

We were just talking about triple screening, etc..
Sometimes there a false posititives, I went through the same due to my age 36 (after 35 your considered old for child rearing)
You worry, but the thing is what would you do any way?? The baby has already grown inside and you have fallen in love with who they are ..In the end does the results matter.
Try not to worry, and wait for all results

[Still_AndiJ]

I agree, generally the AFP can cause more heartache than it is worth. If the u/s shows some markers, the next step would be to a.) get a repeat scan with at least a Level II machine and/or b.) get an amnio. Now there are risks with the amnio, which your doctor can identify for you.

As cinnamon mentioned, you may decide to avoid the testing if you don't care what the results are. Everyone is different, everyone feels differently about potential birth defects (I hate that word) I have told my husband for many years, and he agrees, that even if we saw the markers for something like Down's, we would avoid amnios and such and just work hard to prepare for life with a baby with Down's.

Now, if the markers indicated someone more serious, such a Trisomy 18, that would have an even more difficult decision. But many people with Down's have gone on to lead nearly independent lives.

You may want to check out Babycenter.com and see if they have a forum set up where some of the women may have more experience. They are full of very specific groups and there is a good chance someone has been there and can offer their experience. Trust that you will get lots of support here, any time you need it.

Good luck!
Andrea

[happiface]

To me, obviously not a doctor, those results seem very positive in your favour--
Trisomy 21 ~ 1/4200 is only a 0.02% chance, and Trisomy 18 ~ 1/9371 is only a 0.01% chance.  Both are minimal.

We were refered to a genetic counsellor because my results showed about 1/300 chance that there was a chromosomal abnormality. The Neuchal Translucency test showed the neck measurement was too high, and my blood work and age made it worse.Even with that, she said it was a pretty good result-- that we should be more concerned if it were up around 1/100.  We opted for an amnio anyhow, just to put our minds at ease.

Best of luck to you.

[carolas]

hi!
haven't been here in a while
i had that blood test done with my first pregnancy whatever its called, i was 20 years old, and they told me i had a high possibility of my baby having downs so i cried and and worried , then i went and had a very detailed sonogram where they measured the neck the little fingers and they looked for certain characteristics that down babies have, and everything looked fine so i just had to wait , because i decided not to have amnio, i decided i would love my baby no matter what the outcome.
anyway to make a long story short the baby was born without downsyndrome he's 8 years old now.
when i got pregnant with my second one(which was three months after having the first one, i decided not to have the blood test done, because i didn't want to go through the whole deal again.
he was born perfectly fine too he is now 7
now i am pregnant with my third, and i have some questions concerning that blood test. does that test mean that you always have a higher possibility of having a baby with downs?, or wasit just with that pregnancy?, or should i even be worried about it?
any way hope everything turns out fine. and if anyone has answers to my questions please help.
thanks

[mgi]

funny I had  a similar post yesterday
and I too would be waiting three weeks - that seems too long

[boobers]

I would disregard the blood test results.  I had the AFP done at 18 weks and was told the same odds--very good at having a healthy baby.  I think that test is a bunch of bull.  Usually you get false positives and I had a false negative.  At my 20 week u/s they baby had a heart defect--a preliminary sign of Downs.  They did an amnio and found out the baby had trisomy 18--not compatible with life.  And my AFP came back fine.  If you see markers on u/s and are concerned or want to decide what option is right for you, you need to have the amnio now--not in 3 weeks.  If your DR offce is good at amnios or you see a specialist, there is very little risk.  The biggest risk is from patients who do not rest afterwards or DR's who do not do it right.  Best of luck--I hope everything works out for you.

[meikman]

I am 37 and my doctor told me at my last apt that chances that baby will be downs is 1/250.  She must be going by the ultrasound and my age. I am not concerned about it at all.  First I have heard of people having 1/11 chances after all the tests and baby is born without it.

[bhapro]

I am 34 years old and I have undergone the AFP test which they took in 19th week.  It showed a absolute lower level ie 24.7 which is lower than the normal.  However, the ultrasound results are all the organs showing very good.  Will u suggest me what decision I have to take on this issue? THe concened doctor indicating about the down syndrome of the baby?  Now, I am under tense. Will any body suggest me on this issue to take further steps.


bhapro

[lkarac727]

Hi!  My doctor gave me the option to take this test yesterday at my appointment, and he said the test is pointless.  It is often inaccurate, causing only worry (which, oddly enough, stress does harm the baby).  He said the test was EXTREMELY unreliable, so you don't want to take a positive result to heart.  Plus, let's say the test shows positive for a genetic disorder... What do you really plan on doing with the information?  Seeing as how a genetic disorder is not something you could do anything about, would you love your child either way or would you terminate?  I declined the test.