so upset after 20 week scan..

[MariaIsabella]

Hi all,
Have not been on here for a while. It’s been crazy and has been a roller coaster of emotions and need some support I think.
Had my 20 week anomaly scan. Everything went fine until the sonographer said you are having a girl. I could not believe it since I had the Harmony test done that confirmed 99% it’s a boy!! The sonographer was very certain and showed me the 3 lines and said girl.
After that initial chock and confusion, I had a much worse chock. At the end of the scan the woman said she was not happy with the baby’s brain and that she was not able to find the corpus callosum. I was so upset and was referred to fatal medicine and mri scan. Had the MRI and met the consultant who said the mri was almost normal and the corpus callosum was there but slightly short. He thought it could still grow ( 21+3 weeks at the time ) so having another mri scan booked in 5 weeks time. The rest of the scan/MRI was normal.
So the news of the brain was better (even if it still worried me a lot) but the gender issue is not resolved. The MRI confirmed normal female fetus and so did the scan with the consultant.
I called the Harmony place and they insisted their tests are accurate and not incorrect. They have very safe procedures with bar codes and my test had picked up a y chromosome! After a lot of back and forth they agreed to redo the bloods and I am now waiting for the results.
If it comes back boy again I don’t know what to do? There might be a chromosomal abnormality with my child? Should I have the Amnio test?
I am just so confused and sad and cant enjoy this pregnancy at all
Has anyone had any experience with corpus callosum issues or gender issues? Any advice is helpful.
xx

 

[_GG_]

Hi all,
Have not been on here for a while. It’s been crazy and has been a roller coaster of emotions and need some support I think.
Had my 20 week anomaly scan. Everything went fine until the sonographer said you are having a girl. I could not believe it since I had the Harmony test done that confirmed 99% it’s a boy!! The sonographer was very certain and showed me the 3 lines and said girl.
After that initial chock and confusion, I had a much worse chock. At the end of the scan the woman said she was not happy with the baby’s brain and that she was not able to find the corpus callosum. I was so upset and was referred to fatal medicine and mri scan. Had the MRI and met the consultant who said the mri was almost normal and the corpus callosum was there but slightly short. He thought it could still grow ( 21+3 weeks at the time ) so having another mri scan booked in 5 weeks time. The rest of the scan/MRI was normal.
So the news of the brain was better (even if it still worried me a lot) but the gender issue is not resolved. The MRI confirmed normal female fetus and so did the scan with the consultant.
I called the Harmony place and they insisted their tests are accurate and not incorrect. They have very safe procedures with bar codes and my test had picked up a y chromosome! After a lot of back and forth they agreed to redo the bloods and I am now waiting for the results.
If it comes back boy again I don’t know what to do? There might be a chromosomal abnormality with my child? Should I have the Amnio test?
I am just so confused and sad and cant enjoy this pregnancy at all
Has anyone had any experience with corpus callosum issues or gender issues? Any advice is helpful.
xx

Oh my goodness. That sounds like nothing short of fucking traumatising for you so firstly, I really really hope that you have a lot of support around you.
The first thing I would do in your shoes is call your midwife and ask to go and see her asap as you really need to sit with someone who has the time to listen, talk and help you navigate this. Harmony tests are 99% for a reason. There is no such thing as 100% accurate and my best friend was told boy with Harmony test but 20w scan confirmed girl and she does indeed now have a perfectly healthy baby girl who is 7 months old and thriving.

I know it will be impossible not to worry, so you do have the option to book yourself a private scan but honestly, if an MRI has confirmed a normal female fetus, then I'd trust that over anything else due to how much more they can see with that imaging over ultrasound.
It's also worth remembering that not all chromosomal abnormalities actually mean anything in real life.

Look after yourself, call your midwife and get yourself some support. xxx

 

[MariaIsabella]

Thanks!

Yes it has been so traumatizing. At least the brain thing might be nothing but it still worries me we have to have more MRI scans etc. I have booked myself a private scan next week when I am 22 weeks just to check how the baby's brain is developing and once again check the gender. It will be "interesting" to see what second Harmony results say but not sure how to handle the results.

The Genetics department at my hospital will call me today or tomorrow so I can ask all the questions I have. Even though its only hypothetical at the moment I still want to know what it means to have a boy by blood and girl genitals.

I am considering if an Amnio is a good option to check for sure what is going on but I know of the risks of miscarriage. Has anyone had an amnio at 22-23 weeks?

Its so many uncertain things and unanswered questions which I will not know until further tests and its killing me!

 

[KHTW]

Whaaaaaaaaat?!?!?!?!?!? That sounds absolutely awful!!!!

First of all I am glad that MRI confirmed baby's brain is fine and I am sure in the next 5 weeks they will say the same. I would say to not worry but of course it is impossible! Hope the next 5 weeks flies by!

I don't even know what to say to gender... How on earth could harmony get it wrong?! But they obviously did!! I am sure they are going to come back with some clever excuse but human error is a common thing and nothing is 100%! xx

 

[_GG_]

Thanks!

Yes it has been so traumatizing. At least the brain thing might be nothing but it still worries me we have to have more MRI scans etc. I have booked myself a private scan next week when I am 22 weeks just to check how the baby's brain is developing and once again check the gender. It will be "interesting" to see what second Harmony results say but not sure how to handle the results.

The Genetics department at my hospital will call me today or tomorrow so I can ask all the questions I have. Even though its only hypothetical at the moment I still want to know what it means to have a boy by blood and girl genitals.

I am considering if an Amnio is a good option to check for sure what is going on but I know of the risks of miscarriage. Has anyone had an amnio at 22-23 weeks?

Its so many uncertain things and unanswered questions which I will not know until further tests and its killing me!

If you're getting a call tomorrow, do yourself a favour and write a list of all your questions. When on the phone, tell them you have a list of questions and they will be happy to go through them with you. Xx

 

[Shanivy]

Ah hun. What an emotional rollercoaster. I can't help very much but I'm sorry you've been through so much with your baby.

It sounds like a positive thing that MRI has said normal female fetus. I'd definitely hold onto that. And fx that the next scan shows a catch up with the brain. As to the harmony result, the only thing I've ever heard of for a Y chromosome is a vanishing twin or close miscarriage or human error. It's possible some may have incorrectly took your results. I can't give an opinion on an amnio though, it would totally be up to you. I hope you get answers soon, feel free to rant away to us about it for now to get it all out. Hugs xx

 

[MariaIsabella]

Thanks ladies,

this is exactly what the Harmony lab emailed me:

Due to the methods in place in the lab using barcoding we are confident that no sample swaps occur in the laboratory and we have checked the result for this patient and confirmed the Harmony test has called this sample male.

The accuracy of fetal sexing by the Harmony test is 99%. The test looks for the presence of markers on the Y chromosome to determine gender. There are multiple possible biological explanations for discordance between cfDNA testing and sex as determined by fetal ultrasound. One possibility is the presence of an undiagnosed or vanishing twin. Another potential biological explanation for discordance includes mosaicism (placental or fetal). There are also genetic conditions where a person is genotypically female and phenotypically male (although these are rare).

I did have a miscarriage but that was in April so 6 months before this pregnancy. It was a mc at about 7 weeks, surely no Y chromosomes can stay in my body for that long?

Regarding the vanishing twin thing. Had an early scan at 7 weeks, wouldn't they have picked that up then?

I honestly don't understand what the mosaicism means?


xx

 

[_GG_]

Thanks ladies,

this is exactly what the Harmony lab emailed me:

Due to the methods in place in the lab using barcoding we are confident that no sample swaps occur in the laboratory and we have checked the result for this patient and confirmed the Harmony test has called this sample male.

The accuracy of fetal sexing by the Harmony test is 99%. The test looks for the presence of markers on the Y chromosome to determine gender. There are multiple possible biological explanations for discordance between cfDNA testing and sex as determined by fetal ultrasound. One possibility is the presence of an undiagnosed or vanishing twin. Another potential biological explanation for discordance includes mosaicism (placental or fetal). There are also genetic conditions where a person is genotypically female and phenotypically male (although these are rare).

I did have a miscarriage but that was in April so 6 months before this pregnancy. It was a mc at about 7 weeks, surely no Y chromosomes can stay in my body for that long?

Regarding the vanishing twin thing. Had an early scan at 7 weeks, wouldn't they have picked that up then?

I honestly don't understand what the mosaicism means?


xx

Mosaicism is essentially when an organism has the sex chromosomes of both sexes. What that means for the resulting baby is dependent on case but it is extremely....EXTREMELY rare. It is most likely, as Shan says, a vanishing twin. Disregard your 7 week scan...it is very very easy to miss a twin at 7 weeks and beyond. There are women on this forum that have had a twin missed at the 12 week scan even so that's your likely reason.

Do try to get comfort from that MRI. I think that says all you need to know. Xxx

 

[MariaIsabella]

Thanks ladies,

this is exactly what the Harmony lab emailed me:

Due to the methods in place in the lab using barcoding we are confident that no sample swaps occur in the laboratory and we have checked the result for this patient and confirmed the Harmony test has called this sample male.

The accuracy of fetal sexing by the Harmony test is 99%. The test looks for the presence of markers on the Y chromosome to determine gender. There are multiple possible biological explanations for discordance between cfDNA testing and sex as determined by fetal ultrasound. One possibility is the presence of an undiagnosed or vanishing twin. Another potential biological explanation for discordance includes mosaicism (placental or fetal). There are also genetic conditions where a person is genotypically female and phenotypically male (although these are rare).

I did have a miscarriage but that was in April so 6 months before this pregnancy. It was a mc at about 7 weeks, surely no Y chromosomes can stay in my body for that long?

Regarding the vanishing twin thing. Had an early scan at 7 weeks, wouldn't they have picked that up then?

I honestly don't understand what the mosaicism means?


xx

Mosaicism is essentially when an organism has the sex chromosomes of both sexes. What that means for the resulting baby is dependent on case but it is extremely....EXTREMELY rare. It is most likely, as Shan says, a vanishing twin. Disregard your 7 week scan...it is very very easy to miss a twin at 7 weeks and beyond. There are women on this forum that have had a twin missed at the 12 week scan even so that's your likely reason.

Do try to get comfort from that MRI. I think that says all you need to know. Xxx

Thanks a lot. Still don't get the Mosaicism. How could that have affected my results? Can my placenta have y chromosomes?

thanks!

 

[_GG_]

Thanks ladies,

this is exactly what the Harmony lab emailed me:

Due to the methods in place in the lab using barcoding we are confident that no sample swaps occur in the laboratory and we have checked the result for this patient and confirmed the Harmony test has called this sample male.

The accuracy of fetal sexing by the Harmony test is 99%. The test looks for the presence of markers on the Y chromosome to determine gender. There are multiple possible biological explanations for discordance between cfDNA testing and sex as determined by fetal ultrasound. One possibility is the presence of an undiagnosed or vanishing twin. Another potential biological explanation for discordance includes mosaicism (placental or fetal). There are also genetic conditions where a person is genotypically female and phenotypically male (although these are rare).

I did have a miscarriage but that was in April so 6 months before this pregnancy. It was a mc at about 7 weeks, surely no Y chromosomes can stay in my body for that long?

Regarding the vanishing twin thing. Had an early scan at 7 weeks, wouldn't they have picked that up then?

I honestly don't understand what the mosaicism means?


xx

Mosaicism is essentially when an organism has the sex chromosomes of both sexes. What that means for the resulting baby is dependent on case but it is extremely....EXTREMELY rare. It is most likely, as Shan says, a vanishing twin. Disregard your 7 week scan...it is very very easy to miss a twin at 7 weeks and beyond. There are women on this forum that have had a twin missed at the 12 week scan even so that's your likely reason.

Do try to get comfort from that MRI. I think that says all you need to know. Xxx

Thanks a lot. Still don't get the Mosaicism. How could that have affected my results? Can my placenta have y chromosomes?

thanks!

Essentially think hermaphrodite. The child would be both sexes. Usually, a child of this has bith genitalia as well...you've had an MRI confirm "normal girl" so really don't worry. An MRI would be able to detect retained testicles or any other sign of any other genitalia and it didn't so you are having a normal little girl.

Honestly, disregard the Harmony test. You are the 0.01%. Xxx

 

[KHTW]

I also think you are the unlucky 0.01%!!!!! They simply got it wrong x

 

[BunnyN]

It does sound like you are the unlucky 0.01%. From what I understand errors in the harmony test are most often caused by a twin that was lost very early but left traces of dna. Occasionally even when the baby never developed a small group of placenta cells will continue for some time which can be hard to see on a scan. And of course no matter what they say human error can never be ruled out 100%

 

[Shanivy]

Agree with the ladies I'd disregard it. They haven't even tested again just looked at the result you already knew. 99% isn't 100. As to the DNA staying with you after a mc or twin loss, I don't think fetal DNA ever leaves you. I'd say human error is probably likely too. If you hadn't had the harmony you'd not have this worry the MRI has shown a normal baby girl. Fx for your next scan xx

 

[russellmuscle]

Oh wow!

I am sorry your going through this.

Echo what the girls have said above - I think take the positives and run with them.

Hopefully the harmony can rectify if/where they have went wrong.

RE the results of the shorter corpus callosum, obviously every case differs but my friend's girl had a shorter one. She does suffer from seizures but this isn't known if its directly caused by the shorter corpus callosum. Conditions such as Hydro usually present as shorter but in most cases it is completely missing and I think its the part of the brain responsible for communication but I have heard of kids that go on in life having a shorter corpus callosum being not affected and people not knowing in their life unless found incidentally through a subsequent MRI.

Hopefully all is well for you - but the uncertainty is not nice.

Cx

 

[sunseeker]

Hi

 

[MariaIsabella]

Thanks all,

Got the second Harmony test results yesterday and sadly it once again confirms Male fetus. All the results low risk. Surely this confirms there is something genetically wrong with the baby? Feeling so cofused and scared.

Have an appointment with genetics department Monday and a potential amnio Wednesday. Scared!! Not sure if to go through with the amnio or not.. the scan confirms all is well with the baby except slightly short corpus callosum ( which the consultant thought was a normal variance ). Has anyone had an amnio at almost 23 weeks? Is it horrible?

Xx

 

[KHTW]

If you can, please focus on the solid fact that scan confirmed baby is fine. The 2nd harmony test was done using the old sample, right? So it changes nothing. It could be an indication of a lost twin.

Personally I would not do amnio due to risk. But is a very personal decision x

Sending loads of hugs

 

[MariaIsabella]

If you can, please focus on the solid fact that scan confirmed baby is fine. The 2nd harmony test was done using the old sample, right? So it changes nothing. It could be an indication of a lost twin.

Personally I would not do amnio due to risk. But is a very personal decision x

Sending loads of hugs

Thanks, no they took new blood so plenty of fetal dna to be certain. This is so confusing since scan says normal female fetus. Cant help to think something is seriously wrong!

 

[KHTW]

Such stressful time for you! x

If you focus on the 20 weeks scan it shows you that baby is fine, organs are fine, baby is growing. All you can do is wait for the next appointment, next test. Hope they give you some clarification x

 

[_GG_]

Mariaisabella, I think the main question you need to ask yourself is this...

Is knowing the sex of the baby more important to you than having the baby. Amino does come with heightened risk and it won't tell you very much more so may actually confuse you more. It can't look at the baby and say of there is actually anything to worry about. It can tell you that there may be a chromosomal issue, but you've had an MRI confirm a normal female fetus.

I really, strongly feel that you're I'm am awful situation now because a test has picked up an anomaly that is no longer there...being a vanishing twin. The DNA won't have left your blood yet from what I've read in places so I really think you need to hold on to that physical MRI image of a normal baby girl and have a think about how you could cope with the amino risk. As harsh as it sounds, how would you feel to do it, lose the baby, only to find out she was 100% fine.

That said, your body, your baby and your choice so whatever you decide, know that you will only ever get continued support from us here. Xxx