First Trimester Screening-UPDATED

First of all, you will likely have an uneventful pregnancy and healthy baby. But risks of genetic defects are substantially higher at age 39 than at age 32 or 35. You can jump directly to CVS or amniocentesis. That was the previous ACOG recommendation (a diagnostic test rather than screening for women 35 and older). They are more accurate.

There are defects that can be addressed by in utero surgery. There are also abnormalities for which you would absolutely want to deliver in a hospital with an excellent NICU and pediatric surgical team. Many people may need time to 'grieve' for their expectations of a perfect child during the pregnancy so that when the actual child is born, they are ready to accept and love him/her unconditionally.

I jumped directly to the amniocentesis - I was 17 weeks at my first screen and 39 years old. I would have terminated if there were any questionable findings so that will probably not help you. The procedure itself was no big deal, fast and I didn't miss any work.

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My younger two I was 31 and 33. I was offered the tests and declined. At least to me whatever they showed would have done nothing but cause me stress. It could be argued that I could have prepared but there really isn't any way to prepare for a special needs kid. Oh the test would not have shown Andy's autism.

I guess I see those tests as something for those that abort imperfection. :( Since that wasn't an option for me I declined the tests. I was, sorta am, thinking of having a child with Troy. I am 43, I would still decline the test.

I wanted to add that even if I had known about Andy's needs there wasn't a way to prepare. What could we have done? Save more so we could hire someone to raise him? Really it was a matter of finding that something inside me to push on and find the best care, best advice. Nothing prepares you for that except facing it.

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I had 4 healthy, term babies then miscarried 2, and one more healthy term baby. With each of my six pregnancies I made different decisions. With my first they only had quad screen and I did it, I didn't think much about it and my doc recommended it. With my second they routinely offered quad to all mothers, first trimester screening was reserved for already high risk (which I wasn't), I declined the quad, I just didn't feel it was necessary at that time. With my third, first trimester was now routinely offered, I declined. With my 4th pregnancy I just felt something was "off" from the moment I found out. I opted for the 1st tri screening, all looked fine at 12 weeks, but had to go back at 14 for a follow up and my baby died that day during the US visit. I doubt the screening would have found anything, the autopsy and genetics after delivery were both normal. But something in me told me to test that time. I also lost my 5th, but at 11 1/2 weeks, just before deciding about screening, I don't know what my decision would have been. My 6th, I really felt at peace during the pregnancy and felt in my heart that what will be will be, I declined the 1st tri screening, he is a healthy 11 mo old.
My midwife felt that you should only do the screening if you would go "all the way" with any recommended follow up testing like an amnio. Otherwise a positive screening result will just lead to high stress the remainder of the pregnancy. And you seem to understand this, but just wanted to clarify that the screening doesn't diagnose any problems, it simply means your baby is more likely than the average pregnancy to have a problem based on the presence of some suspicious markers. And the screening is admittedly "generous" with putting people in that higher risk category, it makes it less likely that it would miss someone who's baby really does have a problem but had a negative screening.
Just give yourself some time to really think it through, there are pros and cons to all prenatal testing, including ultrasound. There are reasons to know other than termination (which was never an option for me either), like being at the best hospital to address possible post delivery complications, thorough testing and monitoring to lead to the best possible outcome. Heart defects are mcuh more common in babies with Downs Syndrome, Omphalocele (where abdominal organs develop outside the abdomen) is best delivered by c-section, there are some experimental , but promising, in utero surgeries for spina bifida. Then again, as you know, there is a high positive rate on the screen that leads to stress, and invasive testing only to have a healthy baby. The decision is a personal one, take time to reflect on it and follow your heart.

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I was young during both pregnancies (21 & 23) so no screenings were advised for me, but I had an aunt pregnant at the same time as my first & she had all of the screenings you're talking about with the exception of the amnio. They told her also that her child would have some form or another of birth defect and really tried to push her into the amnio so they could narrow it down. She declined & said she would deal with whatever came her way. 7 weeks before my son was born, her perfectly healthy & normal son was born without complication.

I think you have to just decide what's right for you. Think about whether you would be able to handle having the news ahead of time better than being shocked afterwards. Think about what you would do if advised to abort. In my mind, I agree with my aunt. Even if I was told there would be issues, I wouldn't abort, I would deal with what I was given, and therefore would likely forgo the tests, but everyone is different, right?

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I was 37 when my first child was born, 39 with my second and am now 41 and 21 weeks pregnant (will be 42 at delivery). I have declined all screening tests. I didn't want a screening if I wasn't willing to follow up with an amnio. My husband and I were too concerned with the risk of miscarriage associated with an amnio. We weren't willing to risk it. I am well aware of the increased chance of a genetic problem and even with the increase, my chances of having a healthy baby are still much, much better than not. I asked my first ob if there was anything that could be found with an amnio that could be corrected/treated in utero or would mean that the baby would need to be born with a NICU available and she said no, anything like that would show up on the ultrasound. Also, termination was not really an option for us either. I say not really because I might have considered it with a diagnosis (not a screening result) for a condition that was incompatible with life. But, I didn't really want to have to make that decision and since we didn't do any of the screenings, it was a moot point. I would never consider it for Down's or anything else.

I know that many people want to have time to adjust to the idea of a child with a problem but I felt that if I was going to have a lifetime of challenges I wanted to at least enjoy the pregnancy (denial is my friend :-)). I would rather have be able to focus on the wonderful things about my child while processing the things I lost than spend several months focused only on what i was losing. However, that is how my brain works and not necessarily right for everyone. I also understand wanting to start lining up services and support needed.

I will also say that when I was pregnant with my first child I was working for an organization that provide services for children and adults with developmental disabilities. I was able to see what is possible and that really put my mind at ease.

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Well answer this, would you love your baby no matter how he/she were to born??, then elect to decline the testing. I would never test for it, why make your self worry, for 9 months if the test comes back positive(which it does very often, and baby is born fine!!!).
Good Luck!

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Hey There!

I was 29 when my son was born, but my husband's step-aunt has profound Downs, so we were offered the screening (in addition to the quad). Honestly, we declined them both and I was surprised by how intensely emotional I was about the whole thing. Bottom line, I couldn't and wouldn't "do anything" if we were carrying and "imperfect" child, so there was no use in worrying for 8 months.

A dear friend is a labor/delivery nurse and I asked her opinion on the topic. Here's what she shared with me...
1. These are "screeners" and are not intended to give definite answers. They just let the doctor know that he/she needs to do additional testing.
2. Amnio is risky, so if you don't want to have an amnio you will spend the rest of your pregnancy wondering.
3. The screeners and tests are highly inaccurate and only tell you if you are "at risk"... many people give birth with the "opposite" result.

**The doctor CAN get the SAME information by carefully examining and measuring the images gathered from the ultrasound. This actually came from my OBGYN who "thanked" me for making him "work"- he was joking. It took him about a half hour to look thoroughly through the images and measure different parts of my son's body, but he told me that his assessment was equally (if not more) accurate than the blood tests.

For me, the bottom line was that I truly believe we are given what we can handle. As a school psychologist (at the time) who specialized in Autism I was well aware that I could handle quite a bit. The things I worried about (like Autism and other learning/mental health disorders) aren't detected using a blood test, so there was no point in worrying myself further!

Good luck with your pregnancy!

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Hi L.,
Have you had an opportunity to speak with a genetic counselor about this issue? You have great questions and it may help to review the benefits and limitations of non-invasive screening (blood-work, ultrasound, etc.) with invasive tests like CVS and amniocentesis. One benefit of having screening is that it helps to put people into risk "categories" (low, average, high, etc.) in order to determine whether or not it is reasonable to recommend invasive testing or non-routine tests (like a fetal echocardiogram (a special ultrasound of the heart) which is recommended when one part of the first trimester screen (the nuchal translucency) comes back abnormal). Although there are many draw-backs to screening (many of which you mentioned above), it provides better data for risk assessment compared to what was available in the past (your date of birth). You shouldn't feel that the genetic counselor will push you into having testing and/or having a termination of pregnancy...if he/she is good, you will simply get the information and support that you need to make the best decision for yourself.
All the best,
J. (a genetic counselor :)

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What's the difference between the first trimester screening and the Quad screen? Is the first trimester screening CVS or is there something new? I was only offered the quad screen (triple-screen when I had my first and second it was so long ago) and ultrasounds. I had them for all 4 pregnancies. In my first pregnancy I had an abnormal u/s followed by amnio which confirmed a healthy baby. In my second I had blood work indicating a high risk for DS so I also had amnio, confirming a healthy baby. Tests were normal for pregnancy #3. Pregnancy #4 was twins and the blood work was normal but one baby had a DS marker on u/s. The blood work was helpful for putting that physical marker in perspective so we didn't need to do amnio and both babies were fine.

Overall my experience with testing was positive and gave me peace of mind. I would not have terminated anyway, but I'm the kind of person who likes to be really prepared so if I were carrying a baby with medical problems, I would want to know so that so the hospital can have everyone and everything they needed to best treat my baby ready to go at birth.

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I think that knowing will help to prepare you.

I had a friend (I'm sure lots of us do) who's blood tests showed a 95% chance of Downs. She had amnio with no plans to terminate so that she could know and prepare. Ended up, the baby was fine.

I have another aquaintance who had the blood tests and it was determined that the baby was healthy. She gave birth to a Downs baby (she was in her early 30s). She was devastated. But she is a loving mother and is doing a beautiful job raising the baby.

I just think that it helps to be able to prepare yourself.

Congrats on the pregnancy!

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I had the screening at 29 and 33 (delivered at 30 and 33 1/2).
The first one showed no trouble.
The second one came back with a 1:<4 risk of Trisomy 18. It was terrifying. I did have the CVS for an accurate chromosome count. It came back just fine.

Even though I knew it could be stressful, I chose full testing with my last two pregnancies because I had 3 (and then 4) other children to think about and care for. If there had been an issue, I wanted to be able to prepare the other kids, as well as my husband and myself, for coping with whatever that might be.

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... with both my pregnancies, I had the Amniocentesis.
It was my choice.
Yes, because I was your age and older when I had both my kids.

The procedure is fine, nothing horrendous.

Sure, if something is found it is a no fix.
For me, I got it done because I wanted to know fully, any information about my pregnancy and my kids' health. It was NOT in order to terminate any pregnancy if a problem was found, but so that I had the information and to then be informed of anything and about my kids and/or prepare for things if needed. That were my reasons.

My Doc, does not put a lot of weight on the screenings, besides the Amnio.

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I did have the quad screen with both of my pregnancies, despite the fact that I was in my late twenties. Like you, termination was never an option. I simply wanted to read up and be as prepared as possible for whatever God had in store for us. Both screens were normal. I plan on having a quad screen with any future pregnancies as well.
Blessings on your pregnancy!

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L., like you, terminating wasn't an option. I was 38-39 through my pg and I declined all tests and screenings.

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I did all the tests they recommended with my second baby. I was going to be 36 when she was born, and I saw a specialist for all of the tests and ultrasounds. The only reason I did the testing this time was because there was a family history that was unclear. My grandmother had a son that had mental retardation when she was my exact age, that died at age 9. Since she passed 11 years ago (before I started having kids) I couldn't ask her, and my grandfather and uncle didn't have really any firm facts about what happened. My mother did recall that my grandmother told her when she was pregnant with me that there was no cause for concern, that what happened was during childbirth (he was born 10 1/2 lbs, delivered in the 50's in a doctor's office). Since I wasn't sure, I went ahead with all of that. I didn't with my 1st because I wasn't at advanced maternal age then.
It's really your choice. Good luck!

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I did the screens with both knowing they weren't fully accurate. I planned on getting amnios from the get-go, so it wasn't a big deal to me. With my first, they couldn't do the amnio because he wouldn't move his head, so they did a quad screen (I had already done a triple screen). The quad screen looked fine, but if it had not we would have tried for an amnio on a different day. With the second I had an amnio with no problem. I would do the screens if you will get an amnio if it comes back elevated. Chances are even then everything is fine, but piece of mind is very important! Both of mine showed elevated risks for Down's, but neither child has it. I wanted amnios though anyway.

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Well i dont get the age thing am 22 and i did the test so far good !! I now have a 2m old baby boy : ) congrats on your baby.

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