prenatal testing ugh

[JunebugsMom]

So, with my son we had the 20 week level 2 U/S and it showed 2 "soft markers" for Down syndrome. After much agonizing, we decided to go ahead with the amnio. It came back that he was perfectly normal.

This time I really wanted to avoid the amnio, so I decided to go ahead with the Nuchal Traslucency U/S to try to rule out Down syndrome early. Well, I had it today and while the U/S results were normal, my blood tests indicated an increased risk for Down syndrome. So, they say I have a 1 in 100 chance, which they say is "high risk".

Urgh. Now I just have one more thing to worry about. I really don't want to have the amnio this time, but I have a feeling my DH will push for it. He likes concrete answers. I do hate the idea of having this worry in the back of my head until I give birth.

Then again, I'm pretty sure I couldn't terminate the pg even if I did find out the baby had Down syndrome (my risk for the more severe birth defects--trisomy 18 and 13--is very low). So, I guess that means the test results don't really matter anyway, huh? Well, except we could sort of "prepare" ourselves for a special needs baby.

Ugh. Just "talking out loud" here. Thanks for listening. I know that many of you don't do prenatal testing anyway. But if you *were* in my shoes right now, what would you do??

eta: I just turned 35, so that's part of the reason why my odds are worse than normal.

[finnegansmom]

I think it's too early for amnio, but you could have the CVS. Or wait until 16 weeks for the triple/quad screen and see if those results are the same to make a decision? That's probably what I would do if it were me.

I know how you feel though, I'm 36 and had my NT screening done on monday and am waiting for the results. It's hard. Hang in there.

ALSO - I think for a 35 year old, without the testing, the average risk is 1:200 aprox so you went from .5% chance to 1% chance which really isn't that much.

[meowee]

I just went through a nightmare with the nuchal scan. I was given a greater than a 1:2 chance of a chromosomal problem and a 20-30% chance of a serious structural defect (heart, skeletal). I was told I should consider terminating the pregnancy. I insisted on the CVS. Even on the table for the CVS the OB asked me is I just wanted to terminate and not do the CVS. I said I wanted the CVS. The CVS came back normal. So now I'm supposedly just at the 20-30% structural defect risk.

The thing is it would be easy to say this is all just nonsense but there have been many studies linking abnormally large nuchal measurements to poor fetal outcome, and the larger the measurement the greater the risk. Mine was grossly abnormal at 6mm. All I can think is that the data pools they are drawing their statistics from are imbalanced with "advanced maternal age" mothers which will skew the statistics to make it look like certain abnormal measurements have a worse outcome than they really do in a younger maternal population. The nuchal scan is more reliable than the blood tests, so if your nuchal scan was normal, I would not worry much. And a 1:100 risk is really nothing... that's a 99% chance everything will be fine.

[Tenk]

With my last DD (she passed away at 38w) we went in at 20 weeks for the u/s and I had recently done the triple/quad screen. They were really checking her in there and didn't say anything to me, then the doc called me in to tell us that she had a 1/24 chance of DS, and I was only 27y/o. We were just heart broken. They sent us for a level II and amino. Well, I refused the amino b/c we were going to love her no matter what (Thursday they gave us results, LII was on Monday). they did the L II and everything looked normal. We prepared ourselves for anything either way tho (as best you can) and when she came out, she looked 100% normal. They did try to take a skin sample to see if it showed anything, but she had been dead for 24 hours already and the cells didn't grow. We'll never know for sure, but it wouldn't have mattered to us. If you're comfortable with what ever the outcome may be, then I'd opt not to have the amnio NOR the CVS. Both are invasive needles into the tummy (well you know, you did the amnio the first time), both have risks of m/c. Honestly if it came back as 1/100 and an amnio has a m/c risk of 1/100.....it's not worth the risk IMHO. Good luck with what ever you decide. We'll be here for you!

[Lorette]

My last pg I spent so much time worrying and fretting over whether to get the quad screen or not. I knew there was a large chance of false positives-- but finally decided to get the test anyway. It stressed me out so much, but luckily the results came back OK.

This time I decided not to get any tests or u/s and I feel so much better. Much lighter and no stress. I am 35 but think it's just an arbitrary cut off line.

If I were you, I might just stop the testing now and just believe that everything will be fine and turn out like it's supposed to. Just try to put it out of your mind and be happy and positive.

I sometimes wish these tests weren't even offered to us. It causes soooo much un-needed stress for pg women. Has there ever been a study on how the stress from these test and false results effects the development of the fetus? I get really upset when I think about it.

Good luck with whatever you decide to do and I am sorry you are going through this!


Lorette

[quarteralien]

Originally Posted by meowee

All I can think is that the data pools they are drawing their statistics from are imbalanced with "advanced maternal age" mothers which will skew the statistics to make it look like certain abnormal measurements have a worse outcome than they really do in a younger maternal population. The nuchal scan is more reliable than the blood tests, so if your nuchal scan was normal, I would not worry much. And a 1:100 risk is really nothing... that's a 99% chance everything will be fine.

I think this test is new enough that the data pools wouldn't be representative of the population as a whole yet, so you're probably right. They are skewed, and that should be taken into consideration. Also, any ultrasound results are dependent on the person performing the scan. They are subject to interpretation, because you have to get just the right shot in order to measure, and when you're talking in milimeters, there's a lot of room for error there.

OP, I'm sorry you are going through this. I think the odds are still in your favor of having a healthy baby, but if further testing makes you more comfortable, do it. If it doesn't, and will just stress you out further, don't do it. You have the right to say no. Good luck.

[Tiffanoodle]

Ugh I'd be frustrated, too. With my first 2, I did all the obligatory testing. (well, they didn't have me do the GD test with #1, but "made" me with #2). At 19 weeks, I had to have a genetic u/s done because my HCG levels were high and that could be a sign of Downs, blah, blah, blah. I did it. I was 19, unmarried at the time (we married when I was 6 months along) and we really felt that although we wouldn't have aborted, we needed to know what we were getting into. With #2, I did it just because. It was "the thing to do" and we'd tried for so long to get pregnant that I kind of needed to know. This time I looked at dh, said I didn't want to do any testing, and he (to my great surprise) said he agreed. He went ahead and gave the testing form to the OB, I signed it, and u/s and urine are the only tests we're having done this time. I just really don't think I can handle the stress of "what if" and "uh oh, something's wrong" again this time.

I also would opt against the amnio. It just seems so invasive (I've never had it done myself) and if it's not going to really change your mind except for your dh to know, I wouldn't risk it.

I really hope everything turns out perfectly for you.

[Spark]

I'm so sorry you're going through this.

I'm very close to my SIL and her husband. They had their first baby this past summer. They're both in their twenties. Young, healthy people. Despite much testing, they were told their baby was totally fine & healthy.

They had a total rockstar natural birth arriving at the hospital just 20 minutes before their son was born. They were on Cloud 9, until just hours after the birth, they were told that the pediatrician thought their baby had Down Syndrome. They were devastated.

The valley & depths that they fell were massive. But, they looked into their son's eyes and knew they loved him beyond all measure. They weren't looking at a diagnosis, "Down Syndrome" they were looking into his soulful eyes and looking at him for who he was not the diagnosis that a piece of paper carried. And, they fell in love with their tiny newborn son. Now, they wouldn't change him or his chromosomes for the world. He is just that precious and that funny and that sweet.

Coming from the experiences I have had falling in love so deeply with a babe with Down Syndrome. I would say this, if you do decide to get an amneo, remember that it's not just a diagnosis, it's a beautiful gifted amazing soul that will touch you beyond all measure. Also, it would give you time to meet with your local Down Syndrome support team & prepare a little more. but, if you decide not to test, just remember, it doesn't really mean much anyway. A child with Down Syndrome is such a blessing to his siblings, to his parents to his family, to the world.

Blessings & comfort to you.

[JunebugsMom]

oh mamas, thank you so much for your thoughtful and sincere replies. Spark, I am so glad that you shared that. It really puts things into perspective.

I talked to my DH this evening and he's doesn't seem too worried and he agrees that we shouldn't have the amnio We will probably have the level II U/S later and see if that gives us anymore information either way.

I my DDC!

[meowee]

I'm actually glad that the results of the CVS and amnio take a while to come in because it gives you time to think and come down from all the scare tactics the drs use. I had everyone telling me "terminate terminate terminate" but even if the results hadn't been normal I'm not so sure I would have. Everything was presented VERY negatively by the geneticist and the OB... honestly I don't think they could have been worse or colder about it. I mean they were nice to ME but kept referring to the pregnancy like it was an infection or something... in fact the geneticist didn't even use the word "baby" until the CVS came back normal. Before that it was "the pregnancy."

[Sunshine4004]

Spark - Your post was so touching. Your nephew is just too cute....thanks for including all of those pictures!

[Spark]

Originally Posted by Sunshine4004

Spark - Your post was so touching. Your nephew is just too cute....thanks for including all of those pictures!

He has really changed my perspective & my fear of "something wrong". If prenatal testing had told them that their son would have D/S, most geneticists paint a really bleak picture & strongly encourage termination. Looking into Callan's eyes, you know there's nothing wrong with him. He is perfect in every total way.

I don't think anyone would set out & wish for a child with special needs, yet some are chosen. Those parents are no stronger than you or me. We should never underestimate the power of a parent's love and the amazing blessing that a child with special needs really is to their family.

We are so blessed to have Callan in our lives.

[meowee]

I had my prenatal today and discussed everything that's happened with the OB. She told me she hates these prenatal screenings because they are so likely to give false alarms, and that if a woman is at risk, or concerned about genetic problems, she should just go straight to the CVS or amnio.

One thing I would warn all the mamas here about is to verify with your DH exactly what his views are and what he would want to do if the baby turned out to have a disorder (the test is for a number of disorders as well as DS). Because I really had no idea my DH would be so pro-termination/ abortion in the event of a problem. I think if I had known this I would have avoided all the screenings and tests entirely.

[SeekingSerenity]

Originally Posted by Spark

The valley & depths that they fell were massive. But, they looked into their son's eyes and knew they loved him beyond all measure. They weren't looking at a diagnosis, "Down Syndrome" they were looking into his soulful eyes and looking at him for who he was not the diagnosis that a piece of paper carried. And, they fell in love with their tiny newborn son. Now, they wouldn't change him or his chromosomes for the world. He is just that precious and that funny and that sweet.

That is absolutely beautiful. He is a perfect baby, in every way. *sniff*

My only experience with this is when I had my last hospital birth, with baby #3, I had to do the LII u/s and amnio, because of "abnormal results" on the MSAFP. I was 24. No genetic markers to set us apart, no history, no risk factors, yet told that I was at a high risk for a baby with spina bifida due to the levels measured in this test. My baby's placenta was located on the front of the uterus, so during the amnio, I had to sit there and watch them guide the needle through the placenta, and then when they pulled it out, I had to watch it bleed into the amniotic fluid on the u/s screen. My little girl was squirming and kicking happily, and they told me, now was the critical moment... if the little spurts of blood from the needle prick suddenly became gushes and the placenta hemorraged, the baby would die right there before my eyes. No one told me this beforehand, and it was the longest ten seconds of my life, watching that u/s screen.

She was fine, the amnio was normal, but still, they said, I WOULD go into labor prematurely, all women with this abnormally high MSAFP did, and I'd have to have twice-monthly appointments with biophysicals every time, and due to the stress of it, I did go into what I thought was preterm labor. It wasn't, strictly speaking, but eventually the doc induced me at 37 weeks and even with the pitocin, it took 27 hours to get the baby out. She wasn't ready to be born... but she was just fine, thankfully.

As a result, I will not consent to the testing anymore. If I have a special needs child, then I have a special needs child. A test to tell me it might happen (or in the case of Spark's sister, missing it completely) isn't going to change my love for the baby. It's a personal choice - some people would want to know. I don't want the stress, as those tests are false-positives so very often.

And to me, it doesn't matter. Just look at that beautiful little boy. The love his parents feel for him says it all.

[quarteralien]

Originally Posted by SeekingSerenity

My little girl was squirming and kicking happily, and they told me, now was the critical moment... if the little spurts of blood from the needle prick suddenly became gushes and the placenta hemorraged, the baby would die right there before my eyes. No one told me this beforehand, and it was the longest ten seconds of my life, watching that u/s screen.

How can they justify not telling you that beforehand? That is unconcionable! I'm glad everything worked out. I would definitely forego testing after that experience.

[Spark]

Originally Posted by quarteralien

How can they justify not telling you that beforehand? That is unconcionable! I'm glad everything worked out. I would definitely forego testing after that experience.

:

Oh, man! I am mad for you!!!!

[Ahimsa]

Besides the initial blood draw they do in early pregnancy, I avoid all tests, even ultrasound (unless I am concerned about something) . I did have an early us this time, because of a threatened misscarriage, but I never had one with my son. I want to bond with my baby during my pregnancy and love it for whoever it is when it is born. I also want to trust myself and my own intuition and not rely on outside tests.

[kpsunbound]

What do you mean by DD?

[Spark]

DD = Dear Daughter. It's just internet quick speak to refrain from typing so much. There's a list of initials somewhere in the Welcome section here on MDC. Welcome, by the way!

[chaunacey]

To the OP: Good Luck with your decision. If it were me, I would not undergo any further testing.

To Spark: Thank you for that lovely post. The photographs show a gorgeous baby. It definitely created quite a stir of pregnancy emotions on this side of the screen. It definitely puts it in perspective for me personally.