Worried...I want amnio and husband does not...

[SteelerMom]

Had regular 20 week u/s last Friday on the 26th of March. Showed Bilateral CPCs which did not concern the doctor as apparently everything else looked fine. My quad screen was within the normal range for all the things tested though the only number I remember is the one for Trisomy 21 and that was a 1 in 520 risk. I felt that if I had a level 2 u/s that I would feel better so they went ahead and that was done yesterday. Well, they pretty much ruled out Trisomy 18 (which is mostly assoc. with the CPCs) BUT then they found something the other u/s didn't pick up...an intracardiac echogenic focus which is a soft marker for Trisomy 21. The genetic counselor told me that the cpcs were not really associated with Trisomy 21 so that didn't increase my risk but that the icef doubled my risk to 1 in 260 for Trisomy 21. I am trying to stay off the internet but it is hard. I have found conflicting information regarding cpcs and chromosomal defects (most saying they are only assoc. with Trisomy 18 but some also link it to Trisomy 21.) Having 2 different markers for chromosomal abnormalities even if they don't compound each other is terrifying for me. I am scaring the crap out of myself here. I will not be able to enjoy the rest of this pregnancy. I wanted to do the amnio but my husband is against it because we know will would not terminate no matter what the result and he does't want to take the risk of miscarriage. I hate not knowing and am so worried. I am 32 years old and have had two healthy boys. This baby is a little girl.

[jennica]

Did you have a Nuchel Translucency scan with the blood work, or the blood work by itself?

[MsVyky]

Oh mama, I know how worrying it can be, but google is NOT your friend.

At my anatomy scan, they found soft markers for T21 in my DD too- echogenic bowels, cardiac decels with sluggish recovery, an uncoiled umbilical cord and her big toes sitting farther away from the rest of her toes. My quad screen came back slightly elevated but still within the range of normal.

I spent 5 months worrying, googling, and worrying more. The perinatologist was pushing for an amnio (he had a group of interns to impress), but I declined. The 1/200 risk of losing my baby was too much to risk over a very small chance that my baby could have down syndrome (they also implied that she may have CF; echogenic bowels are a marker for that as well)

And when she came out, aside from a day in the nicu for labour/birth related health issues, she is 100% healthy and normal.

I guess all you can do is ask yourself if the risk of losing a healthy baby due to complications form the amnio is worth knowing if your baby has down syndrome, and echogenic foci are a very soft marker. Did they find any other markers? shortened limbs? thickened nuchal fold? echogenic bowels?

If you'd be willing to undertake the care of a special needs baby, would there even be a point to having an amnio?

Take care mama, please keep us posted

[SteelerMom]

Just the bloodwork. They didn't offer the other because of my age.

[coffeegirl]

Originally Posted by MsVyky

Oh mama, I know how worrying it can be, but google is NOT your friend.

Just wanted to second this, and underline it! I know it's hard, but you'll only drive yourself crazy with google.

If you'd be willing to undertake the care of a special needs baby, would there even be a point to having an amnio?

Take care mama, please keep us posted

This is my question, too. Also if I were in your shoes I would ask myself if the results come back good (with no abnormalities, etc.), how trustworthy are those results? Sometimes doctors will tell you that there's a 30% chance that you can bank on the results...sometimes 90%, etc. Has your doctor told you? Because even if you get back a good result, will it really set your heart at ease if you're also told at the same time that there's a good chance the results don't actually indicate the reality of what's going on? And if not, is the test worth the risk then?

[SteelerMom]

The only markers found were the intracardiac echogenic focus and the cpc(s) (which I think are resolving because she called it or them "teeny tiny" and I think she only referred to one though last week there were two.)
Everything else appeared "normal." I want to do the amnio hopefully to get definitive results that the baby is normal. Obviously, what it is is what it is and I can't change anything by finding out but I also think that I would rather know if there is a chromosomal abnormality than find out after going through labor and then finding out.

[jennica]

Originally Posted by jennica

Did you have a Nuchel Translucency scan with the blood work, or the blood work by itself?

Without the scan, the results for just the blood test alone are about 60% accurate.

There is probably nothing to worry about, but it's hard to tell ourselves that. Have you researched amnio and CVS? I think those are your two options for a conclusive test with the most accurate results. I am not sure what the current risk of miscarriage is for either test, but I do know they are not as high as 1 in 260, which you sited as your risk for Trisomy 21. If you don't mind undergoing the test, it would probably put your mind at ease to have concrete results. However, there is that risk of miscarriage to consider, so it is a tough one to decide.

[coffeegirl]

Originally Posted by SteelerMom

Everything else appeared "normal." I want to do the amnio hopefully to get definitive results that the baby is normal. Obviously, what it is is what it is and I can't change anything by finding out but I also think that I would rather know if there is a chromosomal abnormality than find out after going through labor and then finding out.

I can totally understand wanting to get the amnio done. But, like the pp mentioned, the test is only something like 60% accurate...would that really give you peace of mind, you think?

[tessie]

Originally Posted by coffeegirl

I can totally understand wanting to get the amnio done. But, like the pp mentioned, the test is only something like 60% accurate...would that really give you peace of mind, you think?

Amnio is over 99% accurate.

I chose to have an amnio because, like you, I needed to know. What I'd have done if the results had been positive for a Trisomy I really don't know but I couldn't have gone through another 24/25 weeks not knowing. I think this is one of those situations where as the pregnant one you get to call the shots, not your husband.

If you're concerned about the risk of amnio then current stats put the risk of m/c at nearer 1 in 200/400 - and it's thought that a good number would have happened regardless of having had an amnio. It's also worth asking your OB for his/her personal stats - some seem to be better at them than others.

I'll be thinking of you and hope all is well with baby.

[KatWrangler]

Originally Posted by SteelerMom

The only markers found were the intracardiac echogenic focus and the cpc(s) (which I think are resolving because she called it or them "teeny tiny" and I think she only referred to one though last week there were two.)
Everything else appeared "normal." I want to do the amnio hopefully to get definitive results that the baby is normal. Obviously, what it is is what it is and I can't change anything by finding out but I also think that I would rather know if there is a chromosomal abnormality than find out after going through labor and then finding out.

As a Mom of a child with special needs, follow your instincts.

Unfortunately, Amnios do not catch everything. The Amnio didn't pick up what my DD1 has.

Having said that, I would do an Amnio again. I personally, would want to know what my child has, prepare myself and my family for what we may be facing. In some circumstances it could mean have a medical team in place to attend the child right after birth. But again, thats me and thats what our family would do.

[KatWrangler]

Originally Posted by tessie

Amnio is over 99% accurate.

I chose to have an amnio because, like you, I needed to know. What I'd have done if the results had been positive for a Trisomy I really don't know but I couldn't have gone through another 24/25 weeks not knowing. I think this is one of those situations where as the pregnant one you get to call the shots, not your husband.

If you're concerned about the risk of amnio then current stats put the risk of m/c at nearer 1 in 200/400 - and it's thought that a good number would have happened regardless of having had an amnio. It's also worth asking your OB for his/her personal stats - some seem to be better at them than others.

I'll be thinking of you and hope all is well with baby.

In regards to the risk of m/c. That depends on the Doctor doing the Amnio. You need to look at their stats as well.

[RedOakMomma]

I just had an amnio on Friday. We also went back and forth on whether or not to have it. My quad screen came back great, the ultrasound was fine, but we have somewhere between a 1/50 and 1/200+ chance of this child having the same genetic mutation (TSC) our oldest child has. I was nervous. I've never had a pregnancy where I wasn't worried about this disorder, our second son died from it, and this was our last child...I just didn't want to worry.

The risk of the amnio used to be published at 1/200. Then a study came out saying it was really 1/1000. Our neonatologist, who went over the numbers with us, feels that 1/500 is a better "average" and that it will vary a lot based on the practitioner. The more experienced she/he is, the lower the risk.

Since our risk for the genetic disorder was much higher than the risk of the amnio, we went ahead with it.

I was also hesitant about the amnio because it seemed so silly to risk the baby when I wasn't even sure what I would do if the results of the testing were bad. I'm not sure I could have gone through with an abortion. What made me do it was this...to me, it's worth the tiny, tiny risk (0.2% risk of fetal loss) to have some peace of mind during this pregnancy. For dh, the risk was worth it because he wanted to make an informed choice about this pregnancy. We both feel the risk of something being wrong with the baby is incredibly slim, and parts of both of us wanted to leave her alone in there, but in the end we thought we should follow the risk vs. benefit and go for it.

I'm saying this now that everything seems "in the clear" with the amnio (if something is going to go wrong, you usually know it within 24-48 hours), but I'm glad we did this. I'm looking forward to the test results, and I'm soooooo looking forward to a pregnancy without worries of a genetic disorder...especially TSC.

1/500 means that you have a .2% chance of something going wrong, or a 99.8% chance of it being okay.

1/750 (assuming a highly qualified practitioner) means that you have a .1% chance of something going wrong, or a 99.87% chance of it being okay.

Peace of mind was worth that risk. For me.

[RedOakMomma]

One more thing...did your doctor who did the ultrasound go over the chances of each disorder with you with the ultrasound results figured in?

For example, with my age the risk for Down's was about 1 in 300. But with the measurements on the ultrasound, the dr. estimated my risk was really about 1 in 2000.

For the other trisomy conditions, my age risk was 1 in 500 (or so...can't remember exactly), but with the scans he did he said he would have caught most of the trisomy conditions by ultrasound...so my risk was really more like 1 in 1000.

When you combine the quad screen, the ultrasound, and your age, your doctor should be able to give you adjusted numbers that show your true odds or risks of each disorder.

[RedOakMomma]

Originally Posted by MsVyky

If you'd be willing to undertake the care of a special needs baby, would there even be a point to having an amnio?

I have had two special needs babies, and one healthy baby, and with both of those pregnancies (twins, singleton), we did not test because of that reasoning. It's definitely something to think about.

On the other hand, if you are terrified and stressed throughout your entire pregnancy, afraid of a condition, and afraid to bond, then even if you wouldn't terminate, having an amnio could be worth it. I've "known" (online) a couple of moms who had kids with DS, and one mom said the amnio results helped her mentally prepare. Another mom didn't have any prenatal testing, went through the crash of realization at birth, but also ended up saying she was glad she did it her way. It's really an individual choice...will knowing help you relax? Prepare? Even if you don't want to terminate, there are benefits.

With my healthy son, the one we did no prenatal testing for, we just couldn't imagine risking the baby in an amnio for just our peace of mind. Sometimes I regret that choice. I spent the first year of his life wondering if every little baby twitch was a seizure, and if he (like our oldest sons) would eventually start seizing (the first signs of TSC). I spent my pregnancy in fear and that first year in fear. Even though not getting the amnio might have protected him, I lost a lot of peace of mind. The balance felt off for me, considering the risk. And so, with this pregnancy, we tested. I want to be joyful in this pregnancy, not fearful.

[jennica]

Originally Posted by coffeegirl

I can totally understand wanting to get the amnio done. But, like the pp mentioned, the test is only something like 60% accurate...would that really give you peace of mind, you think?

I was referring to the quad screening without the nuchel translucency ultrasound, which is only 60% accurate. So I was saying her current risk factor based on that blood test alone is only 60% accurate. The amnio and the CVS have very high accuracy rates.

[mrsfru]

Just wanted to add that an echogenic foci is actually a pretty common finding--more often, it means absolutely nothing, as it did w/my second son.

I can fully appreciate your concerns, and I believe it really depends on why you want the amnio--what will having the results do for you vs. taking the risk (very small, admittedly)? If you have risk factors that you are fretting over, it may be more worth it.

Best wishes!

mrsfru

[phathui5]

Could you get them to do the nuchel translucency ultrasound first?

[zinemama]

Originally Posted by tessie

Amnio is over 99% accurate. I think this is one of those situations where as the pregnant one you get to call the shots, not your husband.

Yep.

[lunarlady]

I understand totally why you want the amnio, but I do think you and your hubby should be on the same page before undergoing it. That way if something does go wrong (and the chances are slight!) you can at least have the peace of mind knowing that you both agreed to take the risk. That said, I would sit down with DH and have a conversation about what this means to you and why you feel you need to have this test done. Explain how the stress of not knowing is affecting you, what you will do with the test results, and get some hard and fast numbers from your doctor about the risk factors, etc.. Hopefully he will come around to your side. Good luck.

[Cheshire]

Could you wait until the baby reaches viability so if something goes wrong your child has a chance? Is that a possibility with amnio? Would that satisfy both you and DH? You wouldn't have to wait until the birth and he might have more peace of mind.

Maybe a second scan and opinion from another perinatologist?

My second son died after his birth. When I was pregnant with my daughter we had early ultrasounds to make sure the problems with my son's umbilical cord weren't repeated with this pregnancy. Those scans raised other scares - her nuchal fold measurements were very thick (the first tech had a second tech come take measurements all without saying anything and then the doc came and took his own - nerve wracking). I refused blood testing and if I had been thinking I would have told him to stick with just the umbilical issues and avoid the nuchal measurements.

We had tons of worry but my Ob kept reminding me our chances were still very low for problems. After losing our son I could not risk losing another child due to an amnio accident. The results would not have changed anything for us.

Our periatologist worked with us to do a few more scans as she grew - he was looking for specific age related markers. But, he agreed when I asked, that a lot of issues can't be seen on ultrasound or are just missed.

I found peace not knowing for sure and, the stats were on our side this time and she was fine.

This is something that you and DH have to decide together. Even though you are the pregnant one could your marriage survive if the worst happened because of a one-sided decision? You don't have to rush Give yourself time to think it through and, as you said, stay away from Google.

Best wishes.