Nipt - positive xxy Klinefelter

(12 Posts)
mumtolots4 Mon 20-Apr-20 10:49:40

Hi i just wanted to update this thread for anyone else in future searching for this.
My amniocentesis results came back clear. My harmony bloods were actually a false positive and baby has normal xy and no sex chromosomes. Feel so relieved and thankfully.
I had read so much about false positives and didnt think i was going to be lucky too but thankfully my results of the harmony was a false positive and my amniocentesis was clear.

OP’s posts: |
mumtolots4 Sat 04-Apr-20 08:26:59

Thank you and im sorry you had to go through all that. Life can be so difficult sometimes. Hope you are managing ok.

OP’s posts: |
gratisdictum Sat 04-Apr-20 08:24:42

Hi @mumtolots4 I've got my fingers crossed for you. Absolutely, it is such a cruel choice and grey area, before I had NIPT last December I has never heard of Klinefeleter's. At this stage technology can pick up Klinefelter's but not how it will manifest in childhood any beyond which is the really important part. Hopefully you enough time to have a chat to a genetic counsellor or even better get a referral to a geneticist who can fill you in on the latest research and stats. 12 weeks is such an early cut off point. Not at all fair to families in positions like ours.

mumtolots4 Sat 04-Apr-20 08:02:05

gratisdictum thank you so much for your reply. Im waiting amnio and im just praying its a false positive although I fear it isnt.
I just dont know what to do as you hear from people that these kids dont really know till adulthood and then other reports of kids can be badly affected. Its such a hard decision to make because its such a gray area.

Our decision is made even more difficult the fact that i live in Ireland and termination isnt allowed after 12 weeks unless its fatal so i would have to travel to the uk and im not sure if that is impossible with the coronavirus now.

OP’s posts: |
gratisdictum Sat 04-Apr-20 07:11:34

Hi @mumtolots4 we had a positive NIPT screening for Klinefelter's last December. It was my first pregnancy. The result wasn't a false positive and was confirmed by CVS. 1 in 6,000 random bad luck apparently, it is caused by an extra X in a random sperm or egg. We had genetic counseling and elected to terminate. After the termination, the pathology results confirmed it was 100% Klinefelter's not placental mosaicm. We were told Klinefelter's can manifest mildly in some boys (some Klinefelter's men don't find out until puberty or adulthood) but it can also present in more profound life-altering ways, including higher risk of autism, learning difficulties, developmental delays, physiological problems, metabolic syndrome, chronic disease and infertility (<10% chance of having children with IVF). For us, we decided it wouldn't be fair on a child or ourselves to roll the dice with the odds being what they were. My husband, who is a gentle and sensitive sort, took the view that growing up as a boy and a man in this sometimes cruel world is hard enough.

Best of luck with whatever you decide to do.

cookielove Fri 03-Apr-20 15:02:22

From everything we have been told, (and i only found out i had it by having a mmc with an extremely rare disorder 6 years ago) my eggs may contain the mutation but also may not.

I have had other losses and for me i would never have an amniocentisis and risk a miscarriage. Although i understand the risk is low.

I have researched it and the biggest problems i can see, are learning difficulties, speech and language delay, needing testosterone and infertility. I have to say these did worry me with my first boy wondering all the time would he be ok. But this pregnancy i have barely thought about it, we will cross that bridge when/if we come to it!!

mumtolots4 Fri 03-Apr-20 14:10:54

Thank you cookielove no i havent been tested. Would there be a chance i could be carrying it.
Im just hoping it could be a false positive on the test. And hoping baby is ok.
Are you not testing baby till birth. Is there a chance your baby might have it from your condition.
What do you know about it. Anything i research seems to be on men having female hormones and not knowing what gender they are or wanting to be women or feeling depressed or not having proper relationship because of it.
Is it as doom and gloom as they say.

OP’s posts: |


cookielove Fri 03-Apr-20 12:29:35

I actually have triple x which is the female version of this! I have the mosiac form of it, my first two babies (one survived and one did not) did not have Klinefelter. I am now carrying my third boy and we are waiting till his birth to test if he has it.

It is a worry, but of all genetic disorders it is pretty mild. Have you been genetically tested?

mumtolots4 Fri 03-Apr-20 11:33:16

Actually sussexmidwife do you know how they would get a positive result on it if it wasnt true. Where is the extra chromosomes coming from if baby doesnt have it.

OP’s posts: |
mumtolots4 Fri 03-Apr-20 11:32:02

Sussexmidwife thanks for the replies.
Yes i certainly had no idea what i was consenting to really. Was just thinking of the downs tests and didnt realise of how unreliable the other testing was. I will update this too when i get results from amnio. Please god all will be ok.

OP’s posts: |
Sussexmidwife Fri 03-Apr-20 10:19:02

The results are very inaccurate. I would agree with your doctor. A 60% chance means a 6 in 10 chance. Not much different to guessing yes or no.
I have replied to your PM with more info, but think it is worth adding this here as others will come across it on searches etc and it may help them.
It makes me so sad that NIPT (Harmony-type tests) have actually led to many women having unnecessary invasive tests. The point of NIPT was to reduce invasive tests.
If you are thinking about having NIPT do consider carefully what conditions to have the assessment for and be clear about how reliable the results might be.

mumtolots4 Wed 01-Apr-20 18:35:58

Just wondering did anyone get a positive result for Klinefelter xxy in the harmony nipt bloods. A doctor said it could be a false positive. I was given a 60% chance that baby does.

Anyone experienced similar please.
How accurate are the bloods for sex chromosomes disorders.

OP’s posts: |

Join the discussion

To comment on this thread you need to create a Mumsnet account.

Join Mumsnet

Already have a Mumsnet account? Log in