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PW- Sequential screening? Thoughts? WDYD?
Theoretically, we are low risk. We are both 31, generally healthy (besides my migraines) and have no known relatives with genetic disorder. That being said, there are a lot of gaps in several of the branches for the family tree, so there could be relatives that have issues that we don't know about.
So we are stuck trying to figure out if we want to do it. On one hand, we could do it and get confirmation that we are low risk and hopefully that will make us feel more reassured. On the other hand, we could get word back that there is a higher risk for something, then have to do an amnio (which I dread) and depending on what it is, even if we wanted to terminate, I worry it would be too late at that point anyway.
Thoughts? What did you do? How did you come to that decision? The talk with the nurse yesterday at the OB's office stressed me out so much I couldn't even feel excited about the good ultrasound and had a migraine last night. 
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Re: PW- Sequential screening? Thoughts? WDYD?
It's such a personal (and hard) decision.
I will share my opinion on our situation... We decided to do the NT scan just "because". Just to know. Not because we had any risk factors.
Our results came back abnormal, put us in the high risk category and led us to get an amnio (not at all as bad as it sounds, BTW). The results came back fine and everything looks great. Which did lead to relief. BUT, the time from getting the initial test results to getting the amnio test results suuuuccckkked.
And now I'm a little pissed at myself for spending so much time (including over Christmas) stressed out and tense and not just enjoying being pregnant. DH and I both decided that if we had to do it again, we wouldn't.
Obviously, everyone deals with and handles things differently. I didn't handle this so well
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We're of the "knowledge is power" camp. Regardless of familial history, any baby could potentially have developmental challenges. We wanted to know if that was the case ahead of time so that we could prepare accordingly.
You're just asking about the NT scan and bloodwork at 12 weeks, right? Even though we did those (and would again), we both agreed we likely wouldn't have an amnio, regardless of results.
With DS, I did it mostly because I wanted another u/s.....not a good reason...... and fortunately, things were fine.
I did the NT scan only with these babies--no sequential screen (so not the extra bloodwork). DH, the perinatologist and I talked in advance that if the NT scan came back abnormal I would not do the amnio because I couldn't live with the risk of miscarriage (if something happened, I'd never forgive myself). We also knew that we would never terminate.
My perinatologist gave me a lot of reassurance in the amount of information they can get from a very detailed u/s, had my NT scan been abnormal. So we decided that's as far as we'd be willing to go.
Fortunately, my risks came back about as low as possible for both babies, so that wasn't even a bridge we had to cross.
It IS a hard decision and one only you can make. Try not to stress about it and if you find it's bringing you undue stress, maybe it's a sign you shouldn't do it!
Dude, I don't even know. It was so fast and I felt so overwhelmed.
What I heard was that there is a test to tell if I'm a carrier for muscular dystrophy, CF, and Fragile X. Then there is a separate test that she called the sequential screen, which involves blood work in the first trimester, then bloodwork again in the second trimester. I understood her to say it doesn't show if the baby has xyz syndromes that are tested, but what the risk is. And that if it is positive for Downs, then we would get the amnio.
As much as I want to be prepared, I don't want to worry for nothing if it shows a higher risk or we get a false positive for Downs (like you had to kellenickle.) I have enough anxiety that I don't want to add to it.
But if it's good, I wonder if it will make me feel better...
NT Scan is the u/s they do between 12ish-13ish weeks. It measures the nuchal fold on the back of the babies neck and gives you a risk assessment for Down syndrome and trisomies. They also do a finger prick of blood and combine the nuchal measurement with your bloodwork.
The sequential screen looks for other abnormalities-including the ones you mentioned and involves the blood draw they do at your NT scan AND an additional blood draw late in the first tri (i think I remember doing it around 18 weeks).
Do some research into each one, the rate of false positives, etc., to help you decide. Ultimately, we did both with DS (but gave it little thought) and after a lot of thought with these babies, did just the NT scan and 12 week bloodwork (so not the sequential screen) with these babies.
You see Dr. Nash, right? Is Rachel the one who explained all of this to you? (Sounds like she didn't do a very good job!)
If you're stressed or unsettled at the end of ANY appointment, don't be afraid to ask them to slow down, repeat or clarify info! They are there to give you information, not stress you out!
Ditto the pp who said it is a personal decision.
We opted to not do it both times. For us, we didn't want to get results that came back elevated or abnormal for something and then spend the rest of the pregnancy worrying about it. Neither my husband or I would be comfortable doing an amnio (again, a personal decision) so if something were to have come back abnormal from the NT scan, we would have been left hanging for another 6-ish months worrying.
Because of that, we opted to just wait and hope for the best, and we will deal with any issues that may arise after the baby is born.
Yeah, it's a hi-level ultrasound where they measure the nuchal translucency (spot at the back of the babe's neck). Abnormally high measurements (thick fold) lead to increased risk of certain things.
Just so you know, you won't get a "positive" result. So there's not actually any false positives. You would just get an "increased risk".
So, for my age, my risk is automatically at 1 in 317 (or something like that). After the blood work, it went up to 1 in 47. Meaning there was a 2% risk that our baby could have had T21.
Those numbers were still highly in our favor, but once the idea was in my head, I just had to know (hence the amnio). We had already decided that we wouldn't terminate, but we wanted to be prepared, you know?
It's so much information -and I'm still feeling stressed about other things (now I know the actual numbers of my blood work and I stupidly did some dr. google research, so I'm still feeling more tense than I "should").
Good luck with your decision!
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We opted no for A and yes for N. Reason for the switch is that I was advanced maternal age the second go round and we had a scare already and I was already having extra u/s so we decided why not. We honestly weren't concerned either way and weren't going to change the pregnancy based on the results. The risks for us were low and it wasn't something we felt strongly we needed to do.
I agree, it's a personal decision. Do what you feel you want to do. Either decision is ok.
Yes and yes. She just seemed rushed a little, so I didn't feel like I could ask a lot of questions. And she didn't explain it well (obviously.) I know everyone loves that office and that doc, but I'm just not in love yet. It's stuff like that that's rubbed me the wrong way. But she took the time to read aloud (in rapid speech) much of the handout I got two weeks ago on what to avoid. Um, I can read. I got that part.
Sigh.
I see Dr O l i v e r and absolutely love her. You are always free to change OBs if you don't feel your current one is the right fit.
The NT scan is an ultrasound + blood work done around week 13. If I remember right, it shows if you are at an elevated risk for one of the trisomy syndromes (Down Syndrom etc.).
We had no intention of getting it down, but were *really* strongly encouraged to get it done by our dr. I would not have gotten the amnio for any reason regardless of the results from the NT scan. I only agreed to the NT scan because there was zero risk to the baby.
While I am a fan of research, they can tell a lot at your anatomy scan (usually 20 or 24 weeks.) I felt like 20 additional weeks woud be enough time to research. Also, I have a 6 year old cousin with Down Syndrom who did have complications at birth and required open heart surgery at 2. I don't feel like I would be blindsided even if we didn't find out until she had been born. Obviously it would have been a shock, but I would have had an idea of what to expect. My aunt and I are pretty close and have discussed it a lot.
Obviously it's a very personal decision. For us, it helped to think of what we would do with the results. We would not be getting an amnio so it didn't seem necessary.
Again, it's personal, but they do time everything so if you were to terminate, you'd have results and time to decide.
we did it with both.
We skipped the NT Scan, but did some bloodwork (I can't remember what it tested for...). Our reasoning was that elevated risk for something wouldn't change how we moved forward, other than to stress us out, and the pg was otherwise very low risk. But, this is a really personal decision.
As for things being explained quickly, if you continue to have trouble warming up to your dr and nurse, give another OB in the practice a try. I'm another ol iv er patient, and DH and I liked her because she's really talkative in the exam room. Everything was explained to me in a way that felt like talking to a girlfriend, and I never felt rushed. (that said, she seemed to constantly be behind schedule, probably because she treats patients that way.)
**the nestie formerly known as karen2508**
We chose to do it with Andrew and will if we get pregnant again. I did it for multiple reasons (age, family history, etc...) but for the most part it was for peace of mind.
I am in the knowledge is power camp and wanted to be able to enjoy my pregnancy and child's birth. We did all the tests and they came back with very limited chance of chromosomal disorders, which because of my uncle's mental retardation, was the best thing I could hear. I would have done the amnio if necessary but at the end of the day it wasn't, and I got to go home and sleep in peace (so to speak) for the remaining 6 months.
Don't let this test stress you out, enjoy every single minute of your pregnancy because it goes by so fast. Talk to your husband when the time is right and decide what you both want, but make sure that you are comfortable with the choice you make because as much as you love your husband it's your body and you are the one who is carrying the baby.
Hugs!
Amy
This. Even though I'm older, we knew we would not do an amnio, and there was no way we'd terminate. I'm usually in the "knowledge is power" camp, but on this issue, I didn't want the additional stress for most of the pregnancy - I have enough stress that I can't control. But as everyone else has said, that's simply what was right for us. It may not be the right thing for you. Lots of luck!
Oh, and if you don't love your dr, change!!!! You spend a LOT of time with them and their staff - it's totally worth it to keep looking and be happy.
"There is a fine line between a princess and a witch...thinking you're one does NOT give you the right to act like the other." my grandmother
we opted for the test-- similar situation we felt overwhelmed and just thought we should do it. Our NT scan was perfect but our bloodwork was abnormal. We spent weeks worrying our daughter had a problem only to be told she was fine just before we went on vacation but to come back in three weeks for an extra ultrasound to be sure. That extra ultrasound was when we discovered the IUGR. We had three more weeks with her.
I swore I'd never do the tests again because we didn't plan to medically terminate-- BUT-- turns out our abnormal blood result indicated IUGR althoug the perinatal group we were seeing never told us that. Had we not done the bloodwork we would not have had the three weeks we did with her knowing she would not make it. Those weeks were stressful but a great bonding time for DH and I with Lilly. I cherished every moment. Had we not done the quad screen we never would have been "checked" with an extra ultrasound and I would have gone into a routine appointment to be told her heart stopped. Completely unprepared.
So for me... it turned out to be helpful. No one wants bad news but I think it's better to know what you are dealing with.
Married October 28, 2006, TTC since March 2009 IUI #1-8 w/ clomid = BFN
IVF # 1 May, 2011 = BFP!!! Stillbirth at 26 weeks (placental failure/severe IUGR)
FET #1 February, 2012-- BFP! Beta #1=84 Beta #2= 207 Beta #3= 3,526
Our Rainbow Baby is on the Way!
I got to WPIH as well. Love Dr. Oliver and her nurse, but they weren't too thorough with this with me either. They just handed me a handout and told me to let them know what I wanted. However, I didn't really ask for a lot of info since I knew what I wanted since this is what i do for a living.
The point is that there is screening that is offered to all women regardless of age for genetic diseases/birth defects that are common and can happen to anyone. There are two types of tests. The first type is the carrier tests to see if you (and then maybe DH) carrier a genetic disease therefore the baby may be at risk. If I remember correctly WPIH offers carrier testing for Spinal Muscular Atrophy , Cystic Fibrosis and Fragile X Syndrome. I did this prior to getting pregnant but elected for SMA and Fragile X carrier testing only. For me I would potentially do something different if I was a SMA or Fragile X carrier so I wanted those tests. I knew I would have a child with cystic fibrosis and since newborn screening for CF is now available in TX I declined CF carrier testing. That is my personal opinion about these diseases and how they impact a family. I think the point is its up to you and your DH; You need to learn about the diseases and see what you think about learning your carrier status.
The second type of testing is screening for down syndrome, trisomy 18 and neural tube defects/spina bifida. But Agran is totally right, sometimes abnormal levels can indicate other problems. Usually this is blood work and sometimes an ultrasound or NT. The results are risk numbers; so a 1 in something chance for the conition. There are a ton of diferent versions of this test. I chose to do the first trimester screening with blood work and NT. So I got a risk for Down syndorme and Trisomy 18 in the first trimester. I then had a second blood draw in 2nd trimester for AFP to screen for neural tube defects. I wanted to know if there could be any problems and would have done a CVS or Amnio if anything had come back high risk. I dont know what I would have done after that but I was ok with that. I like the website: www.mytestingoptions.com Its run by a lab so they are biased but I think its a nice break down of all tests out there.
Sorry for rambling...its so tough to wade through all these options!
All of this!
We did the NT scan and blood work, but nothing beyond that. We decided that we wouldn't do any further testing no matter the results though.
I agree with this completely, it's exactly how I feel about Dr. Ol iv er. I always had morning appts though, so she was never behind schedule then. FWIW, I had two interactions with your nurse while PG and neither were stellar. When I saw her at an exam, I felt so rushed and she just seemed cold to me. We took one of the classes that she taught (breast feeding I think) and again, she seemed cold. It's probably just our personalities not clicking, but I remember thinking I was happy that we decided to do the hypnobirthing classes elsewhere since she was the teacher there. I'm sure she is a lovely person, but sometimes you just don't click with people and that's OK.