2 inconclusive Harmony Test

hojojo79

I'm 35, 15 weeks along and just found out my 2nd Harmony test was inconclusive. Has this happened to anyone else? I'm debating whether or not to have an amnio done. Any suggestions?

BostonBaby1

I'm sorry you are going through this. What does your doctor suggest? And what is inconclusive for? I think that that would depend a lot upon what I would do. Personally, having had a lose from Trisomy 15, I would probably do the amino but I'd go with your doctor's advise. Good luck mama. (((Hugs))(

LC122

Well, that sucks. I had the Harmony done too and when I was reading up on it, they had numbers like 300+ out of like 15,000+ had no result; I guess meaning they were unable to detect enough fetal DNA fragments in the blood to run the test.
Terrible luck that it was inconclusive Twice!
What does your doctor recommend? Are you otherwise at high risk? Are you too far out to do the triple screen or quad screen?

I only did the Harmony because it was relatively affordable and available. There was a chance that it could have cost $700+ and we would have passed and done the 1st tri triple screen like we did before.

Amnio comes with its own risks, so unless you have reason to be concerned, you might see what other options are available that have a relatively high sensitivity/specificity. I think the difference that I read was the triple screen was like 93-95% sensitive vs 99% with Harmony.

skyeluv51

I'm 12 weeks and just found out I need to be redrawn for MaterniT21 due to not enough fetal dna. guess I'll try again.

skyeluv51

I'm 12 weeks and just found out I need to be redrawn for MaterniT21 due to not enough fetal dna. guess I'll try again.

skyeluv51

I'm 12 weeks and just found out I need to be redrawn for MaterniT21 due to not enough fetal dna. guess I'll try again.

Marchmellow2

When I was 12 weeks I found out that I had to redo the materniti21 due to not enough fetal DNA. When the second one came back at 15 weeks it said positive for Trisomy 13. I'm getting the amnio tomorrow. Which I will have to wait another 2-3 weeks fur results from that. If I were you I'd either ask them to give me another genetic screening (not a harmony) , if you have patience to wait again, or or I'd get the amnio. I'm sorry you're going through this and I'm sure your LO is fine. But I would get another test for sure to be sure! Amnio has risks but as long as you have a good MFM (not just a tech) doing it, it will be fine!

hojojo79

My doctor said its up to me and why I would want the amnio; would I terminate if there were issues or just want to mentally prepare... My family has had a lot of late term losses (one was confirmed trisomy 18); I'm not sure if I'm strong enough emotionally if I lost the baby near the end or a month after the birth.

I've had an extremely easy pregnancy until now. I'm torn on the amnio and waiting for the 20 week ultrasound- I would get results about the same time.

Thank you for all your advise, wisdom and kind words!! Best wishes, mamas!!!

Marchmellow2

The MFM would give you an anatomy scan like next week if you want. then you can decide. My MFM is doing a full anatomy scan tomorrow and then I will make a final decision to do the amnio or not. Just a thought...

BostonBaby1

hojojo79 said:

My doctor said its up to me and why I would want the amnio; would I terminate if there were issues or just want to mentally prepare... My family has had a lot of late term losses (one was confirmed trisomy 18); I'm not sure if I'm strong enough emotionally if I lost the baby near the end or a month after the birth.

I've had an extremely easy pregnancy until now. I'm torn on the amnio and waiting for the 20 week ultrasound- I would get results about the same time.

Thank you for all your advise, wisdom and kind words!! Best wishes, mamas!!!

I agree with what @Marchmellow2
Said about having an MFM do the amnio instead of a tech! I personally would still choose to do the amnio because if you find something at the 20 week scan, you're still going to need to do the amnio anyway. As mentioned before, so long as it is performed by somebody that is well-versed in what they're doing, the risk is low. Either way, it's a very difficult decision to make. However, the reason that I would have to go forward would be to at least put in the best care possible for my LO upon their arrival. Hopefully, there will be nothing wrong! But on the off chance that it is one of the Trisomies like what my son had, it's something that you need to be prepared for. Please let us know what happens? And please know that my thoughts and prayers are with you! Praying for a healthy little baby!

nik6499

I don't believe that a tech can do an amnio because it's an invasive procedure that requires a qualified professional to manage, a tech may perform the ultrasound guidance with them but the actual needle insertion to my knowledge has to be done by a licensed professional.

I think the only person that can make this decision is you and your partner. As LC pointed out the quad screening doesn't have the same level of sensitivity and specificity as the newer genetic testing. And keep in mind these are just screening, the only true diagnostic is amnio or cvs. Both have risks and both are invasive procedures, one going through the abdominal wall one typically through the cervical opening and they samle slightly different areas. All that being said this is a choice you really want to weigh all your options and all the risks versus benefit and come to a choice that ultimately you can live with. I truly believe that a woman has to make this decision based on what he/she can live with. Doing an amnio or cvs does not essentially mean that you will terminate if there is an issue which is a common comment that comes up in these threads, it's just information and your decisions have to be based on what you both feel you are prepared to deal with. Choosing not to do the diagnostic is also perfectly fine and an acceptable course of action. I wouldn't necessarily say Google this, I would say sit down with your OB or an MFM or both and discuss the risks and benefit to help you make the best decision for your family.

BostonBaby1

nik6499 said:

I don't believe that a tech can do an amnio because it's an invasive procedure that requires a qualified professional to manage, a tech may perform the ultrasound guidance with them but the actual needle insertion to my knowledge has to be done by a licensed professional.

I think the only person that can make this decision is you and your partner. As LC pointed out the quad screening doesn't have the same level of sensitivity and specificity as the newer genetic testing. And keep in mind these are just screening, the only true diagnostic is amnio or cvs. Both have risks and both are invasive procedures, one going through the abdominal wall one typically through the cervical opening and they samle slightly different areas. All that being said this is a choice you really want to weigh all your options and all the risks versus benefit and come to a choice that ultimately you can live with. I truly believe that a woman has to make this decision based on what he/she can live with. Doing an amnio or cvs does not essentially mean that you will terminate if there is an issue which is a common comment that comes up in these threads, it's just information and your decisions have to be based on what you both feel you are prepared to deal with. Choosing not to do the diagnostic is also perfectly fine and an acceptable course of action. I wouldn't necessarily say Google this, I would say sit down with your OB or an MFM or both and discuss the risks and benefit to help you make the best decision for your family.

Very well said!

hojojo79

I have an OB and a genetic counselor; my amnio would be done at my genetic counselor's clinic (perinatal physicians) where they work with high risk pregnancies and fertility issues. They are highly recommended (online, by others in the health care system and by friends who have used them) and I feel like they are very supportive and very knowledgeable. I received this news Tues and received a check in call today to see if I have thought of any questions.

I have decided to do the amnio; I'd rather know what's up with the kiddo then play the guessing game. I promise to keep you all updated on here. Marchmellow- thinking of you- please keep me updated how you are doing!!! Hope today's scan goes smooth!!!

Marchmellow2

@hojojo79 you've got a pm!