@brettanomyces ours told us we couldn't opt out of the sex linked ones but there were a few and she only mentioned that one. None of my results came back elevated I just thought it was strange. Perhaps that's the most common one to worry about because it's the one that will likely end in miscarriage?
FML, my doctor just called and my husband and I are BOTH SMA carriers. I am at a loss right now. We have been through so much and things were going so well and now this...
@pirateduck That's hard news to get. If an anecdote is any help, someone from my previous BMB (I think I mentioned her up-thread) has had 3 healthy babies despite she and her husband both being carriers. Are you going to pursue fetal testing?
DD #1: April 2017 DD #2: May 2020 Baby #3: EDD May 2023; MC October 2022
@pirateduck Ugh, I am SO sorry. Is the next step an amnio? I really hope you get the baby's results back soon and they're negative. I had a friend go through this and the waiting is awful. Big hugs
**TW**
Me: 35 | H: 40 Married Sept. 2013 DS1: Nov 11, 2016 MMC: 11/16/18 (9w6d) CP: 2/3/19 (5w3d) BFP! 8/24/19 DS2: May 10, 2020
@catem07 I need to discuss more with my husband. My gut reaction is that I want testing and my husband will say he doesn’t want more testing. I just keep trying to remind myself that there’s a 75% chance that everything is good still, but I am terrified.
@pirateduck I'm so sorry. Maybe sit YH down with your doctor and discuss why testing is important? Or whether you can test once baby is born? FX so hard that your baby is in the 75% group. ❤❤
@pirateduck I'm so sorry! 75% is a very big range though, I also remember someone from my September group though, they had both tested positive, and both their kids did not have it.
Thank you ladies. I've had such a rough journey to even get to this point, I just don't know how much more bad stuff I can handle. Praying for a good outcome. At this point there's really not much else we can do.
@pirateduck so sorry to hear this. Hopefully you can get answers quickly if you go through with testing or can find peace in waiting until after baby is here and hope for good news.
@pirateduck sending hopeful wishes for everything being okay, the good news is the 75% chance that baby is fine...I can’t even imagine how hard the other 25% feels and how much bigger.
@pirateduck thinking of you and hoping you can get quick answers with a favorable result!
ETA- @jhysmath I just saw your question. We had the panorama and the only sex-linked condition reported for us was also Turners (negative). We are having a boy. I think it’s just one of the things they test and they report independent of the sex.
Yes. I have a consult Tuesday morning. They will do the amnio the same day if we choose to do that. I'm not sure how long it takes for results (one of many questions I have for the MFM).
@pirateduck I'm so sorry for the added worry and stress. I have no experience in this area, but hopefully there's some comfort in the fact that 75% is still a really big number. Please keep us posted.
I am 31 and really have no risk factors so we did not do any of the early screenings or tests, mainly because they aren't covered. With DD we did the Quad test at 16 weeks and chose to do it again this time around. Everything came back low risk, actually even lower risk than with DD who was also low risk. I am thankful, but now my nerves have moved to the anatomy scan results.
I updated in appointments, but will add a short post here in case anyone else has to go through this. I had an amnio this week. The procedure is not as scary as it sounds and I would compare it to having blood drawn, but the needle is in your abdomen. The doctor performs this in conjunction with an ultrasound tech so that they can find the perfect spot and keep and eye on baby the whole time. Baby is monitored before, during, and after and you can see your little and the heart rate. I was sore for the remainder of the day, but nothing that requires pain meds or anything. I was given no restrictions on activity and no follow up visit is required (other than to discuss results from testing). I'm happy to answer any questions regarding the procedure if anyone is facing this as I know it is stressful. Emotionally I was a wreck, but physically it was no big deal.
Thank you for that, @pirateduck. I have one scheduled for the 31st and I've been afraid. It's hard to know what to expect, so I appreciate your summary.
@louessbee for me it was an emotionally difficult day, and I had to go to a different medical center than my regular OB office and see a new person which added stress, but the procedure itself was not bad (literally only 1 minute with the needle, like a blood draw). I was surprised at the lack of concern for follow up, but I guess the doctors really do not consider it a big deal either. Do have them call your insurance prior to then in case they need any special pre-authorization or anything. Depending what tests they are running determines how long you need to wait for results. I was quoted 7-10 business days for my tests, which seems about average. I did have a bit of a freak out/panic attack later, like OMG what have I done, have I made a huge mistake, is baby ok, etc., but ate some food and got some sleep and feel normal. I'm just now 3 days out and from what I gather, if there are any complications, they generally arise by now. Coincidentally I have an OB appointment next week. If that wasn't already scheduled I think I would have scheduled some sort of follow up check up after the amnio just for peace of mind.
so - my quad screen results came back abnormal. my OB wants me to have a high-res ultrasound at the MFM practice next week to look for neural tube defects. He was reassuring and said that particularly for twin pregnancies the test just isn't that reliable but I'm worried 😕
@allie456 I feel that it’s normal to be worried about additional testing/screening but at least the doctor was reassuring and admitted that the test isn’t that reliable.
I have Kaiser and their screenings are lumped into first & second trimester. I had my NT scan and blood work at 12 weeks, then more blood work at 16 weeks, and I’m still waiting on the results. I should get them next week at my 20 week appointment but for some reason I’m suddenly anxious. If something came up abnormal, isn’t it getting late in the pregnancy to do an amniocentesis? Obviously, these policies are set in place for a reason but I’m getting anxious.
@drkoyya I think it is because results that show serious abnormalities sometimes lead to pregnancy termination. In that case, earlier is better than later, for a variety or reasons, number one being the health and safety of the mother, but also the legality in different states. The other thing with an amnio is that it can take a few weeks to get answers depending what they are testing for
Oh my gosh, that is so not true! I do know that Mat21 is the only test to use for multiples because they have the most experience and are in-network with all the insurance companies. I have friends who are physicians and they swear by this test especially for multiples
Re: Genetic Screenings and Tests - Questions and Experiences
DD #2: May 2020
Baby #3: EDD May 2023; MC October 2022
Married Sept. 2013
DS1: Nov 11, 2016
MMC: 11/16/18 (9w6d)
CP: 2/3/19 (5w3d)
BFP! 8/24/19
DS2: May 10, 2020
- BFP: 3/10/16 — Baby Girl born 11/20/16
TTC#2 April 2019FTM
BFP: 9/5/19 ~ EDD 5/15/20
BFP1 04/24/2015 EDD Dec 2015 MMC 10W5d;
BFP 2 09/25/2015 EDD June 2016 MMC 9wks;
BFP 3 03/22/2016 EDD Dec 6th 2016
ETA- @jhysmath I just saw your question. We had the panorama and the only sex-linked condition reported for us was also Turners (negative). We are having a boy. I think it’s just one of the things they test and they report independent of the sex.
DD2 born 9/10/17
I am 31 and really have no risk factors so we did not do any of the early screenings or tests, mainly because they aren't covered. With DD we did the Quad test at 16 weeks and chose to do it again this time around. Everything came back low risk, actually even lower risk than with DD who was also low risk. I am thankful, but now my nerves have moved to the anatomy scan results.
- BFP: 3/10/16 — Baby Girl born 11/20/16
TTC#2 April 2019FTM
BFP 08/25/19, EDD 05/04/20
FTM
BFP 08/25/19, EDD 05/04/20