Some advice needed re: prenatal screening tests/amnio

I am 37, currently 17 weeks pregnant, and with UCSF. I did IVF with donor sperm (i'm going to be a single mom). I was healthy before getting pregnant and feel really great right now. But I'm reminded often that I'm of advanced maternal age and any pregnancy over 35 is considered high risk, and the chances of abnormalities go up significantly when you're over 35. I had my first and second trimester blood tests and also the NIPT at week 10.  I have an anatomy scan in 1.5 weeks, so hoping to get more info then as well. NIPT (Harmony) results:Trisomy 21: Low Probability,  Less than 1/10,000 (0.01%) Trisomy 18: Low Probability Less than 1/10,000 (0.01%)Trisomy 13: Low Probability Less than 1/10,000 (0.01%) Sex Chromosome Aneuploidy Panel: Low Probability 2nd Trimester blood test results:AFP: 0.72 MoM
Down syndrome: 1:6,900
Trisomy 18: 1:80,000
SCD: less than 1:10,000 I am very happy with these results, but the genetic counselors still haven't said they don't recommend an amnio. They keep saying NIPT isn't 100% and false positive rate is < 0.1%. I just don't know what to do! Since I'm going to be a single mom (well my family is going to be really involved, so I'm not really alone in this), I don't really know how to proceed and who to talk to about this. Has anyone been in a similar situation?

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With my first kid, I was scared to do any testing because I was REALLY advanced maternal age (41) and was so terrified of miscarriage. I don't think that was a rational decision, but I was just like -- that was what I did. My mom actually screamed at me because of this and I had to not speak to her at all for the last few months of my pregnancy because anytime I spoke to her she harangued me. That was fun. My baby was born prematurely, but had no genetic problems -- healthy as a horse, just small. I did do CVS with my second baby, which is the one that you do at like 10-11 weeks. Oh dang - but you missed that window, did the doctor not suggest it?? Sheez. Anyway, so now you are wondering about amnio. I don't feel comfortable telling you it'll be okay, but my thinking was, my numbers are great, we are peeking at that baby very often via ultrasound, she looks normal, it's all bound to be okay. That being said, I am sort of a golden retriever, emotionally, and I generally think EVERYTHING Is going to be okay. Hope this helps. I suspect it doesn't. Ugh sorry. Congratulations on your pregnancy tho, you're going to do fine! 

Yes! Congrats!!! You will be over the moon when your little one comes:)

Similar circumstances and results for me. Kaiser said my results were great and I didn't need the amnio, but my friend who was the same age did because she is diabetic and was a higher risk.

They did however send me in for a 3D ultrasound around week 32-33 to see how big the baby was in case they had to deliver early. And they started non-stress tests plus weekly ultrasounds around week 36-37 to monitor my fluid levels. And I was induced at week 39 after they told me the risk of birth complications increases dramatically after 39 weeks for women over 40.

BTW, I saw a fertility acupuncturist to help get pregnant and she also helped me get ready to be induced. Kaiser said induced births could be 2-3 days of labor, but with her help mine was less than 24hrs after my water broke. And I swear by the epidural:)

I am 36 and  34 weeks pregnant (also via sperm donor and also ivf). My insurance is through Kaiser so they may have different standards of care than UCSF but when my NIPT came back low probability that was the end of it-  no one recommended an amnio and I was never referred to a genetics counselor. I guess if you're really worried you could request an amnio, the risk of miscarriage is real but quite small.  I took a lot of comfort from the 20 week anatomy scan. They probably also measured your baby's nucal fold at 12 weeks via ultrasound (a marker of downs). I had some non-related complications early on in pregnancy that kept me preoccupied so it didn't even occur to me to still be worried about the genetics! Hopefully you can ask your Dr. what they recommend? My guess is the genetics people have to be slightly vague for liability reasons. Congrats on your pregnancy and best of luck!

First, keep in mind that the vast majority of babies born to older mothers are healthy. But I had my now 10 month old at 45 and can relate to your worries. My first trimester screening with NT scan resulted in a positive screen (1:88) for Downs. We decided to do a CVS to rule it out, since the risk of miscarriage from CVS was lower than the Downs risk. That's the calculus that I was comfortable with, and it may or may not make sense for you. Fortunately, the doctor and nurses who did the procedure were very experienced and clearly knew what they were doing. And as we expected, CVS came back negative. That gave me some peace of mind. But it was scary for a few days because of pinching sensations at the needle insertion site.

I think there are clear risk levels at which they offer additional diagnostic procedures, but I don't think they specifically recommend for or against them because it's such a personal decision how you weigh those relative risks.

Ultimately, you want to be clear on why you want to know, and what you think you would do if there is a serious birth defect.

I'm really surprised your genetic counselor is suggesting you need an amnio. I had the same NIPT results as you and I'm a bit older (38 at conception) and was told the risk of miscarriage from an amnio far outweighed the risk of a chromosomal disorder, based on my NIPT results. Both my OB and my genetic counselor agreed on this. Same story with my earlier pregnancy (36 at conception). If you're really considering an amnio I would at least get a second opinion from a genetic counselor in a different practice. But I really don't think you need an amnio. Congrats and good luck!

I had my first and only child in my early 40s. It sounds as if you are asking if you should have an amnio or not. In my experience, the question to ask yourself if whether having adverse test results will cause you to act or not. Our genetic counselor told us it's a decision making tool. As I was high risk, I had CVS done (CVS earlier than amnio, i think early testing options have changed since), two times for two pregnancies. The procedure itself is not fun but it is bearable and, in my opinion, it was worthwhile for us to have certainty in a few key areas of what is definitely an uncertain overall journey. My best wishes for you.

I went through a similar situation, they told me I might have a baby with Down syndrome. It is not fun to be reminded that all the time, but I talked to other mothers and they told me that's what they do if you are over 35. I kept my baby. My pregnancy went fine and when my son was born he didn't have Down syndrome. However, over the years I discovered he was diferent than other children, when he was 5 he was diagnosed with ADHD. He is a beautiful child, life is a little bit hard but we just keep going. No regrets at all.  Good luck.

I'm not a doctor, just a scientist, and I had my kids at 37 and 42. The risk you list are very very low. The risk of miscarriage with amino is not trivial so I wouldn't consider an amino with these results. If you are still concerned, ask about a "cell free DNA test" which will take fragments of the baby's DNA which circulate in your blood and test these for many chromosomal abnormalities (Down's plus many more that aren't in the current state of California run screening). The downside is that these tests are expensive and might not be covered by your insurance, but the upside is that they are likely very accurate and entail no risk to your baby. (If these tests show normal results you almost certainly will have a chromosomally normal baby. A positive result means either you or the baby has chromosomal abnormalities - usually this is the baby, but very rarely these tests pick up metastatic cancer in the mom). 

As you know there is a small risk of miscarriage from an amnio. I had my daughter at 39 and had the other tests done, but the amnio seemed like overkill. Also, I was given an amnio following a fetal demise a few years before (to try to determine the cause) and got an infection from it; that could cause an additional risk if you are pregnant. Nothing in this life is certain; the information you already have is leaps and bounds ahead of what our mothers had and I'm not sure we're better off for it. Love your baby and hope for the best.