My OB recommended that we might want to do cvs or amniocentesis because of a previous pregnancy loss that resulted from a genetic abnormality. After that loss, I met with the genetic counselor, who told me that our particular abnormality (triploidy plus a deletion of one chromosome 10) was a random event and did not increase our chances of future loss. They checked for translocations, genetic abnormalities that can be inherited, and didn't find any. The OB said in contrast that having a previous loss due to a genetic abnormality increases your risk of future genetic abnormalities and we should weight the benefits and costs of invasive testing.
Has anyone else received a similar recommendation? Nearly all miscarriages are caused by genetic abnormalities, so this logic would seem to suggest that anyone with a miscarriage should consider cvs or amniocentesis in future pregnancies, but I don't know if that's the standard recommendation. I'm going to do NIPT, but it only tests for trisomies 13, 18, and 21 and the doctor suggested considering invasive testing as well since it can look for many other conditions.
grapefruit / 4988 posts
Nope, and in fact I wanted NIPT for my 2nd pregnancy (after 1 loss) and they said no because I wasn't AMA at that time. I did get NIPT for my final pregnancy (I was 35).
kiwi / 598 posts
My husband has balanced translocation in chromosomes 1 and 2 (the big ones) and we were offered the choice of CVS or amniocentesis. We chose CVS and would do so again for any future pregnancy. In your situation, i.e., loss was due to a fluke versus a known condition, I would probably pass on invasive testing.
cantaloupe / 6085 posts
my ob just does nipt ... that will be enough for me if i get pregnant again. My ob said my trisomy loss was also random and wasn't likely to happen again (although of course my risk is higher at 36).
olive / 60 posts
Nope, just NIPT. I did panorama since it includes screening for triploidy which was also the reason for my previous loss.
pomegranate / 3658 posts
No. We did NIPT.
honeydew / 7463 posts
@Raspberry: hey! I have a balanced translocation as well 18 and 20. Haven't seen many others dealing with translocation so I thought I'd say hi.
And same. I'm offered CVS and Amnio because I have a known abnormality. However, since I do IVF w/PGD plus NIPT I never felt it was necessary to do further invasive testing.
Personally I'd be concerned if my OB suggested invasive testing for a de novo/fluke abnormality and you have already had karyotyping done to rule out abnormalities you and your husband could carry. I would do NIPT and call it a day.
grapefruit / 4466 posts
@catlady: It seems like every practice has such different policies - I am glad to get the NIPT, I'm 34 and worried I'd just miss the AMA cutoff.
@Raspberry: I'm sorry you have to deal with the translocation. I hope things are going well @SweetiePie: too
@bhbee: @sillymilly: @PawPrints: @SweetiePie: Thank you, this is super helpful. I think I'll limit it to NIPT and be happy with that, since I don't have any specific reason to be concerned about abnormalities that NIPT doesn't cover. I'm really hesitant to do anything that could cause a risk of miscarriage, even if it's small...
cantaloupe / 6146 posts
@periwinklebee: i would forgo it, in this instance the genetic counselor knows more about this subject
in general, if there is a genetic abnormality, you have a higher chance of another, but the genetic counselor already said this was random, so i would forgo it. invasive testing carries risk as well
pomelo / 5866 posts
It was suggested but not recommended. We opted not to do it.
grapefruit / 4455 posts
@periwinklebee: can you have a NIPT and NT and see if anything looks off and then decide?
grapefruit / 4321 posts
Since you know from the genetic counselor that your loss was due to an random event, I would decline invasive testing. I would do the NIPT and an NT Scan and if either of those showed an increased risk of abnormality, THEN I would move forward with he more invasive tests.
blogger / wonderful cherry / 21628 posts
I would start with the NIPT. My husband has a translocation and I had an NIPT with microdeletions, which looks at more than the 3 trisomies you mentioned. Based on those results I decided against anything invasive with miscarriage risks. If the results had been bad then I would have gone with the CVS or Amnio.
grapefruit / 4466 posts
@pastemoo: @808love: @2littlepumpkins: @Truth Bombs: @Mrs. Pickle: Thanks everyone, this is really helpful! I can get NIPT done once I'm 11 weeks, and already have an NT scan scheduled for in a week and a half, and I think I will stick with those unless they raise further concerns.