H I are currently scrutinizing our 12w ultrasound from the NT scan looking for "markers" and googling like crazy... it's going to be a long couple of weeks. I've probably had 5 or 6 ultrasounds, assuming I'll be having another soon... I wasn't even going to do the NT/NIPT because we were "low risk." I feel like if this ends up being nothing I'm going to be so jaded by the whole prenatal testing process. I can't believe I have to have an amniocentesis. Has anyone had one, or read anything that was helpful in terms of preparing for one?
@phillyftm I’m so sorry! the NIPT can def have a higher risk associated with your age, etc.
if you truly are in Philly per your username - I have a second opinion recommendation for you if you ever want it. But hopefully your doc can perform the amnio (which will be 100% definitive) and it’ll be negative and you’ll be done with it!
@phillyftm I'm sorry you are going through this. Know you never have to do anything in pregnancy. It's what they are highly recommending. I can never take my own advice but try not to Google too much. You could do the 2nd opinion if you wanted. Not super familiar with NIPT. Did they say how much of an increased risk?
@phillyftm I'm so sorry for the added stress and uncertainty. Will pray that all is perfectly well with your babe & that the time passes quickly for you!
@phillyftm I'm so sorry you have such a stressful wait ahead - sending so many positive thoughts your way and thinking of you and your family. All my hopes that you got your appointments scheduled and that when you get your results your little one is healthy.
@chichiphin thank you for the link that is super helpful! We actually just moved from Abington area to the NW suburbs last month (Phoenixville/Malvern area). I have really liked my new OB here, but I'm asking for copies of radiology reports from ultrasounds because we were verbally told "everything looks great." If the report says otherwise I will probably be looking for another practice.
@janat1717@ternsetc@MsBeachNJ just wanted to say hi and thanks for your kind messages. @ janat 1717 the risk probability on sequential screen was 1:30, my hormone levels were low but not super low. Maternal fetal medicine specialist explained yesterday that because I was on high doses of infused steroids for an MS flare (safe for baby) that that could have messed up my hormone levels. (She compared it to a diabetic or pre-diabetic as steroids mess up how you metabolize glucose which messes with hormone levels; apparently women who are diabetic can have a false positive for high risk of trisomy 18.)
Update: met with an MFM and did an amnio yesterday, an experience which was bearable but I never wish to repeat. We had another "normal" ultrasound, the doctor explained that in 80% of T18 cases you see evidence on an anatomy scan. Trying to focus on the positive that we saw nothing out of the ordinary on u/s. Hope to have results of the amnio by Friday. Time is standing still when I'm at home, but the work days fly by so that's good (I'm an SLP I work with kids with ASD so my days are super fun and often unpredictable usually in a good way!)
@phillyftm glad to hear that your ultrasound was "normal" and that the amnio is behind you, I hope the next 48 hours fly by and you get excellent news on Friday!! Will be thinking of you!
@phillyftm I'm sorry I didn't see this earlier. Thinking of you during this uncertain time. Glad to hear that nothing came up on the u/s and I hope Friday brings you good news
@themadcamel@mommyshark13 thank you guys. On the off chance that the results came in early I called the office after work today, but they closed at 3. :: sigh:: Just got home, took the dog for a long walk, and I'm looking for other distractions around the house.
I just looked back through the thread. @moxyligeia I am so so sorry to hear this. I second @chichiphin, can your OB recommend an MFM? I met with one on Monday and she was super knowledgable.
Just got the call it's good news the preliminary results show chromosomes 13, 18, and 21 are all normal (we had an elevated risk of T18). Thank you for the support these last 8 days ♥️ Spring break started today at 4 pm, I'm off to catch up on some sleep. It goes without saying we are so relieved. Happy Friday everyone!
Asking for a friend... 32 year old female who had a normal NT Scan, got a positive result for down syndrome on MaterniT nipt. She doesn’t know how ”positive” the result is, just was told in a voicemail by her OB’s nurse that her testing came back positive for Down’s syndrome. I’ve read that 1 in 5 positive results turn out to be false positives. Just looking for some happy endings to help her get through to the next round of testing.
@ksobaby1 from what I understand, NIPT shows whether or not there are risksof Down’s or other chromosomal abnormalities, but it’s not a diagnosis. I was told that if NIPT results come back with high risk, that’s when a diagnostic test like amniocentesis should be done.
@ksobaby1 what @themadcamel said, it is my understanding that NIPT assesses the risk or chance of chromosomal abnormalities. I would advise your friend to (1) get on the phone with a doctor, (2) say she wants a physical copy of the NIPT report to review / for her records (she can take this with her to any other appointments she might be scheduling), (3) ask the doctor about genetic counseling or a referral to a maternal fetal medicine specialist (sometimes called MFM or perinatologist) and (4) ask the doctor about diagnostic testing (amniocentesis). Decisions about genetic testing and the decisions that may follow are personal and 100% up to her. She does not "have to" pursue further testing, or any for that matter.
@janat1717 RIGHT? I would be livid if my office left info related to test results as a voicemail, someone needs to be there to answer questions and offer some guidance about next steps.
Re: NT/NIPT Discussion Thread
@lillywonderland
@zuuls_mom
Thank you ♥️ I can feel the ~positive vibes~
H I are currently scrutinizing our 12w ultrasound from the NT scan looking for "markers" and googling like crazy... it's going to be a long couple of weeks. I've probably had 5 or 6 ultrasounds, assuming I'll be having another soon... I wasn't even going to do the NT/NIPT because we were "low risk." I feel like if this ends up being nothing I'm going to be so jaded by the whole prenatal testing process. I can't believe I have to have an amniocentesis. Has anyone had one, or read anything that was helpful in terms of preparing for one?
* Edited because typos drive me crazy
if you truly are in Philly per your username - I have a second opinion recommendation for you if you ever want it. But hopefully your doc can perform the amnio (which will be 100% definitive) and it’ll be negative and you’ll be done with it!
ETA: https://americanpregnancy.org/prenatal-testing/amniocentesis/ this was where we learned about our testing options
married 11.1.14
ttc #1 since 5.18
bfp 12.22.18 letrozole + progesterone
d&e due to trisomy 13/hydrops at 15wks
bfp 7.21.19 letrozole + IUI
little girl A born 3.26.20
married 11.1.14
ttc #1 since 5.18
bfp 12.22.18 letrozole + progesterone
d&e due to trisomy 13/hydrops at 15wks
bfp 7.21.19 letrozole + IUI
little girl A born 3.26.20
Update: met with an MFM and did an amnio yesterday, an experience which was bearable but I never wish to repeat. We had another "normal" ultrasound, the doctor explained that in 80% of T18 cases you see evidence on an anatomy scan. Trying to focus on the positive that we saw nothing out of the ordinary on u/s. Hope to have results of the amnio by Friday. Time is standing still when I'm at home, but the work days fly by so that's good (I'm an SLP I work with kids with ASD so my days are super fun and often unpredictable usually in a good way!)
I just looked back through the thread. @moxyligeia I am so so sorry to hear this. I second @chichiphin, can your OB recommend an MFM? I met with one on Monday and she was super knowledgable.
Married 8/16/13
BFP#1 DS 11/13/16
BFP# 2 MMC dx @ 13w 10/30/18
BFP# 3 Preemie DD born at 38w (IUGR) on 8/28/19 weighing 5.5lbs. Our little miracle
@janat1717 RIGHT? I would be livid if my office left info related to test results as a voicemail, someone needs to be there to answer questions and offer some guidance about next steps.