Anyone NOT do any genetic screening?

bunches916 · November 2012

No flames please. I just wanted to see if there was anyone else out there who chose not to do any type of screening. It was a personal choice that DH and I made not to do any testing because it caused us a lot of stress and anxiety when I was pregnant with our DC #1. I had a 1:99 chance that she would have an abnormality and it devastated us. But she came out to be a perfectly normal and beautiful baby girl. With this pregnancy, even though we decided to opt out, I can't help but think "what if." We do know that whatever the results may have been, nothing would've changed anyway. That's why we opted out. I know that some do it for peace of mind. But for me, either way, I would be stressed out. Just wanted to see if anyone out there is in a similar situation. Thanks for your input.

danieleandwayne · November 2012

I almost didn't do any prior to the 20 week ultrasound. My insurance doesn't cover any of it and it would have cost over $2000. If the baby had DS, we wouldn't terminate and the genetic counselor said that my age (38) only gave me a less than 1% chance of having any of the trisomies that are incompatible with life.

I ended up, however, deciding to do the MaterniT21 test after the lab told me that they have the $235 OOP max fee and my mom offered to pay for it-- it is apparently more important to her than to us!-- just so I can have the peace of mind and be more prepared if I happen to be one of those less than 1% positives for a trisomy that is incompatible with life.

After the MaterniT21, though, I won't have anything until the 20 week U/S. If the baby has spina bifida (I'd be surprised-- no history in our family and I've been taking folic acid for 2 years before I got pregnant), they can do a lot to fix it in the womb. Not ideal, but more ideal than waiting until after birth...

I think your decision sounds like the best thing for your family-- the added stress could make for an unpleasant (and unhealthy) pregnancy. I don't think you're being irresponsible or foolish or anything other than knowledgeable and considerate of your unique dynamic. I hope nobody in your family judges you for your decision (like my mom, who was surprised when I said I wouldn't terminate a DS child-- what does that say about what she thinks of me?!?).

mbw410 · November 2012

Yes, we opted to do no genetic testing. Our thinking was why get information that could potentially be very stressful. We passed on the NT scan and at the 20 week anatomy scan a bright spot was detected on the heart, which is a soft marker for DS. We still decided to pass on further testing, such as the Maternit21 test. I know I couldn't stand waiting for results and if the results weren't favorable I would be upset the rest of the pregnancy and pass that stress onto the baby. I am 35w now and just hoping for the best. Everyone has to take the course of action that is right for them, and that is what my husband and I did.

stever · November 2012

PetraStonegirl:

No flames, just information. I am pasting in a screen capture from a thread that came up recently. It was reposted with permission from the original author, who is a professional sonographer (not just an u/s tech, it's like the difference between a radiologist and an xray tech). She goes through all the things one should consider when making that decision. While she has her soapbox, to be sure, the information is sound, and is not the sorts of things we tend to talk about when we try to make this decision.

botanicalb...

Joined on 08-17-2011

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Your sister must have had a terrible tech. This a quote from another nestie who is a sonographer. Her explanations convinced me to get the 1st tri screenings.

Couple disclaimers. 1. This is one of my soapbox issues, so I understand that I have a fairly extreme view. 2. I understand not everyone agrees. 3. I understand that the test is optional for a reason. 4. I understand my patients have the right to refuse and I VERY MUCH SO respect that right. I explain why we recommend it and I would never guilt a patient or even let on that I disagree if they decline.

Obviously the first thing that people associate this with is Down Syndrome and the other main chromosome abnormalities, like T13 and T18. These findings are rarely hereditary and quite frequently found in patients with no family history. So the whole we dont have family history argument is out the door for me.

Some people say "I wouldn't terminate, so it doesn't matter" I think that is so incredibly irrelevant. The line that follows is usually "we will love it the same" Except you aren't. Fetuses will chromosome abnormalities that are not fatal have an increased incidence of "poor fetal outcome" which includes late term intrauterine demise. Now no one wants to have a 37 week loss, but one that COULD HAVE BEEN PREVENTED?! Babies will Down Syndrome are also likely to have issues with placentation, meaning the placenta ages more quickly and can become inadequate early than the typical 40 weeks. This can be caught with weekly testing after 32 weeks. So if you are getting testing (which you would only have if you knew the baby had DS then it is likely, of course nothing is 100% in OB, that the baby would exhibit signs of hypoxia (or lack of oxygen) and could be delivered immediately. Potentially saving its life. If your Dr said "your perfectly healthy baby has a higher chance of dying suddenly after 32 weeks but we need to do a weekly test to prevent it" would you question that? Probably not. So why wouldn't you give your DS baby that same level of care.

Some people say I wouldn't do the amnio. We only recommend amnios if your risk is greater than 1:300 the risk of loss is currently quoted as 1:500. So we wouldn't recommend it unless the risk of having an affected baby is greater than the risk of loss. I will also just state that there have been exactly zero losses secondary to amnio in my hospital in the last 17 years. Have babies died afterwards, yes. But those babies were all proven to be very sick and would have passed at the same gestational age with or without the amnio.

Another change in management of care is that if you have a baby with a fatal disorder, the difficult decision of protecting mom or baby goes out the window. With conditions that are dangerous for mom such as pre-eclampsia, Drs will push the mom until they do not believe it is safe to do so in order to get baby further along, therefore increasing the odd of a positive fetal outcome. That threshold changes when the fetus will not live after delivery. Your dont wont (and shouldn't) push your body to the same point because of the risk it poses to you or your ability to have future pregnancies. Emergency C-sections for fetal distress would also not be recommended for a fetus affected by a fatal disorder.

At that NT we also look at the spine. Yes, this will be looked at at 20 weeks. But like someone posted earlier, you dont have how you would feel until you are there and at 12 weeks you have a lot more options/ maybe havent told everyone yet...etc.

We also look at other anatomy. I have seen findings at the NT save babies lives and/or vital organs. For instance, we look at the bladder. I have seen a baby with bladder obstruction at an NT, we brought the baby back at 16 weeks to follow up. It needed an emergency shunt that saved its kidneys. And its life, it was born full term and never went to the NICU. At 20 weeks it would have already lost all kidney function. Therefore wouldn't produce fluid and would have either died in utero or immediately after bc fluid is what makes the lung development progress in third tri.

We also look at arms, legs, choroid plexus (hydrocephalus, anencephaly) stomach, bladder, cord insertion, umbilical cord, etc. All of these things are looked at because abnormalities can be seen at that time.

Cystic hygroma is also most commonly caught at this time. Cystic hygroma, while most commonly associated with chromosome anomalies is not always. However it is FREQUENTLY associate with heart defects and a fetal echo would be required at 24 weeks. Cystic hygromas most often "go away" by 20 weeks if the baby lives that long. So without knowing it ever had one, we wouldn't know to check the heart. And no, the routine heart views gotten at most offices would not give all of the information needed.

two more things, i'm almost done, promise.

I know that many people would not terminate a pregnancy if abnormalities were found. Well, they say they wouldn't anyway, but that's a whole other deal.the terminal ones aren't so much the ones that I think make this test so important unless you would terminate. Then the earlier the better. But if you truly wouldn't then you will likely get the information at the 20 week ultrasound anyway. Many terminal disorders will be caught at 20 weeks. However, FIFTY PERCENT of babies with down syndrome look NORMAL on a 20 week ultrasound. However, their chromosomes are still abnormal and the pregnancy still carries the same risks.

Finally, there is an emotionally aspect to is that is very very important. If your baby has abnormalities they may need special care after delivery, special pediatrician, maybe special childcare, etc. You are going to be emotional, upset and overwhelmed. I think all of those things should be addressed before delivery so that you can devote your attention and emotion to your child's care. I think parents should have time to work out as many of those emotions (frustrated, scared, overwhelmed, angry) in the time before the baby arrives. All, and I mean All, as in every single one of our patients that have babies with abnormalities that knew ahead of time have said that they are so thankful for the time that they had to think things over personally, meet with the NICU team that would be caring for their baby, meant with counselors, etc.

Some people also say "if there isn't anything that can be done in utero then I dont want that information during the pregnancy" So if you had your A/S and you asked the Dr. if there were any abnormalities and he said "I can tell you that there aren't any abnormalities that can be addressed in utero, have a great day!" that would be adequate information?

I'm just not buying the whole false positive "worry for nothing" bit. You are not worrying for "nothing" If the NT says you have a risk of 1 in 25 of an abnormality then it comes back normal it wasn't false. Your baby REALLY DID have a 1 in 25 risk. It just so happens that you are one of the lucky 24 out of 25 that didnt have to go there. You were worried because there was a real possibility that your baby could have a LIFECHANGING issue, lethal or not, this is going to change your life. And hopefully you are one of the 24 out of 25 that dont have to ever think about this again. But if you really will "love them the same" then give them the medical necessary for the best outcome, just like you would a healthy baby. If it is something, I believe it is SO incredibly important to have that information to prepare yourself with. Will you still set up a nursery, have a shower, etc. Even if you dont terminate, there are still different ways of grieving and I believe you need every piece to the puzzle.

I think that it. I know that this is soooooo long. Sorry Also, I didn't proofread or even reread my thoughts, I might have to clarify a few things.

kirac · November 2012

We did GT. But if you don't plan to change anything as a result of your GT, I honestly don't see why you would do it. It would just be added stress as you said. If there is a case that you would change something about your birth plan or something, then it might make sense.

BarefootContess · November 2012

That is interesting analysis posted above. I have a hard time believing there has never been a loss due to amnio in 17 years, though.

I did not have genetic testing with any of my pregnancies, primarily because I am not willing to undergo an amnio. I also have a level II ultrasound performed by a doctor who specializes prenatal diagnosis. I have a high degree of confidence in his ability to detect abnormalities. That said, I know there is still a risk my baby could have a chromosomal abnormality.

This is most likely my last pregnancy, but if I did have another I might consider the maternit21 test since it is non-invasive.

brens317 · November 2012

I am just a lurker here but had to respond. We did not do any GT with DD and we chose not to with this one too. Its totally a personal choice and you have to do what's right for you.

starting all over again · November 2012

My DH and I decided against any screening because whether there are any problems or not there's no reason to put added stress on the pregnancy. Just as well, we will love our LO just the same.

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