Saturday, April 25, 2009

Back on the evil worry train ... it's gonna be a looooong weekend.

We have results. I am beyond sad having to tell my lovely blog land friends that the results are not good.

On Thursday we received only one page of the triple test. It had two numbers on it, being free beta HcG, and PAPP-A. The results page was not there. I put on my armchair doctor hat, and consulted with my good old friend Dr Google, who confirmed what I suspected. We have a high free beta hCG and a low PAPP-A. So what does this all mean?

After fretting for days about the results page, it finally arrived, and confirmed Dr Amani and Dr Google's suspicions, our numbers indicate a high risk for trisomy 21, Down Syndrome and high risk for trisomy 18, Edward's Syndrome. Gulp.

As you can imagine, the news is very distressing. Down Syndrome is bad enough, but it is something we would deal with if, in fact, we need to. I keep reminding myself these are screening tests, not diagnostic tests. But Edward's Syndrome is a much sadder affair. Fifty per cent of babies with Edward's Syndrome die in utero. researchers place this figure much higher because many ES babies miscarry before being diagnosed. Of those that are born live, 95 per cent live between five and 15 days. The other five per cent of ES babies live only a few months. Very few live past a year. Those that live for a little while tend to be girls.

I spoke with Dr Yash at length yesterday and she explained that our pregnancy is most likely compromised, that it has always been a high risk pregnancy and that the combination of the high beta and the low PAPP-A indicates both conditions. 

Mrs C went to Dr Soni yesterday for a nuchal translucency (NT) scan. We don't get the results until next week sometime. For now, I don't want results that may confirm what we all suspect, I can deal with only so much bad news at a time. To say our hopes for a healthy live baby are crushed is an understatement. Dr Yash says after the NT the next lot of testing is an amniocentesis at 16 weeks. That will confirm whether bubble has trisomy 21, or 18 or both, or neither condition.

I asked about a CVS test now, but discovered that test is more invasive than an amnio. I didn't know that. Dr Yash said they prefer to wait until 16 weeks and do an amnio. In all honesty, if it were my body carrying this baby I would opt for the CVS. But it is Mrs c who is carrying our baby, and it is her who has to have a needle inserted in her belly (or in her .... in the case of CVS) and I cannot ask her to undergo an invasive CVS when there is the option of waiting and having a less-invasive amnio.

But 16 weeks. OMG, that's five or so weeks away.

The numbers:

For anyone who wants the actual numbers to crunch and perhaps come up with some good outcome stories for me, here they are:

Free beta hCG: 2.21 MoM
(MoM = multiples of the median, ie the average)
Our risk for DS: 1 in 218
Age risk: 1: 982
Overall population risk: 1:600

PAPP-A: .54 MoM
Our risk for ES: less than 1 in 10,000 (but this low number combined with the high beta indicates a higher risk for DS).

I don't really understand why our risk for ES is high given that the odds are less than 1: 10,000, but Dr Yash assures me that she and the pathologist agree, we have a high risk for ES. I have to be guided by them.

Some research: my dear friend Lisa, always so strong and positive, found some information about the beta and PAPP-A tests and average numbers. For once, my ability to research and find good outcomes with results like ours, has disappeared. Here's what Lisa found.

The first-trimester combined screening test consists of a combination of the following three tests:

1. PAPP-A levels in the maternal bloodstream between 10 and 13 weeks of gestation.

2. Free beta hCG levels in the maternal bloodstream between 10 and 13 weeks gestation.

3. Ultrasound measurement of nuchal translucency (an area at the back of the fetal neck), taken between 10 and 14 weeks gestation.

PAPP-A is produced by the placenta. Levels of PAPP-A are significantly reduced in  the blood of women carrying fetuses with trisomy 21 and 18. Blood levels of hormones and proteins can be expressed as "multiples of the median value (MoM)." A "normal" level of the protein is set to a MoM of 1. In women carrying fetuses with trisomy 21, the MoM of PAPP-A is, on average, approximately 0.44 (ours in 0.54, ouch). For trisomy 18, the MoM of PAPP-A, is, on average, approximately 0.32 (more ouch).

hcG is produced by the placenta. It consists of two subunits, alpha and beta. The alpha subunit is also incorporated into other hormones, but the beta subunit is specific to hCG. Normally less than one per cent of the beta subunit exists in the free form without the alphas subunit.

The median MoM of free beta hCG in the blood of women carrying fetuses with trisomy 21 is elevated to approximately 2.0 on average (ours is 2.21, ouch). The MoM of free beta hCG in the blood of women of women carrying trisomy 18 is reduced to approximately 0.18 on average. (Ours is 0.54, so perhaps there's hope. This is what I am confused about, but Dr Yash says we are at high risk for this, so I have to trust her).

The report goes on to talk about NT results. I won't go into that now because we don't have that results yet.  That will be a lesson on fetal medicine for a later post.

So where are we at:
Scared, dumb-founded, sad ... in a bad space all round. But we have no lost all hope. These are screening tests, not diagnostic tests. In a lighter mood I can get myself to think it may be all okay. But accessing that lighter state of emotion is proving difficult.

We don't know what we are going to do long-term, only that we'll get through this darkness as we do every time something nasty comes our way. When we have the NT results back we will be going to our IVF doctor here in Perth, not to second guess the Indian docs, but to get a referral to a genetics counsellor. From there, who knows?

My prayer for our child 
If you are not happy with the body we created for you, if you don't think you could cope as a person with disabilities, or you feel your parents will not be able to cope with a child with disabilities,  you don't have to continue your struggle, it is okay to leave us. We love you and we'll try again, until we have you in our arms. 


jojo said...

Your prayer made me tear up. Beautiful.

But don't worry, Am. I just know that baby is quite happy with the body she's got, that it's a good body and that you'll be happy with it too.

I hope the 5 weeks got quickly for both of us.

hugs xxx

Heather and Jase said...

This is heartbreaking. I am so sorry. I wish I were there to hug you and scream at the world with you. I'm always here for you anytime.

Sara said...


I'm so sorry for the news you've received. I agree with what the PP said, I wish I was there to hug you & scream at the world with you. That's exactly the course of action that seems warranted in this position. It just doesn't seem fair. I'm sure you've thought of all of this, so excuse my suggestion, but is there a way you can see/talk to your local doctor before 5 weeks? Perhaps they could give you further insight into the tests & I would imagine it may be easier to discuss this with them without the communication barrier that the SI docs may have against them.

Amani, when you're ready, maybe you want to look into this thread on SMO a little bit. I'm not sure all the details, but I just remember her success story after some scary bloodwork.


Anonymous said...

Dear Anani,

Please know my thoughts and prayers are with you. My husband and I have a beautiful little boy who was diagnosed with 3 p minus syndrome (a very rare genetic condition) at the age of 3. Although, we have our struggles he is a happy and healthy child with so much love to give. Each day I am blessed and grateful to have been chosen to be his mommy. Be strong and know that all will work out for the best.

Best regards,
Special Needs Mommy

J and D said...

This is not want I wanted to read. You will be in my prayers. Hugs and prayers coming your way.

Oddity Acres Clan said...

We are miles apart by distance but sitting right next to you, holding your hands by heart.

We love you all.