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This forum is for Mumsnetters to discuss undiagnosed illness.

SN undiagnosed genetic conditions

High risk

3 replies

Kierajay96 · 14/03/2018 21:21

My partner and I have recently found out that we are in the high risk category of having a child with DS. Both of us are still very young ourselves and therefore are worried and scared and I’m looking for some advice. Some support would be massively appreciated

OP posts:
Afternooncatnap · 21/03/2018 22:15

Are you already pregnant?

Kierajay96 · 25/03/2018 10:25

Yes, I am 16 weeks now x

OP posts:
Afternooncatnap · 25/03/2018 17:54

What is the reason your high risk?

At my 12 week scan I was told my baby had a cystic hygroma. We were told we had a 50% chance of chromosome abnormality.

I went and had the cvs. Babies chromosomes were normal. I'm not sure what I would have done had he had a chromosome abnormality but I needed to know if he had and what it might be before I made a decision.

I think it is worth getting the baby's chromosomes tested because some syndromes are more life limiting then others. Also if you want to keep the baby regardless you will be better prepared for what to expect.

It's turned out that my son actually has an unknown genetic condition. He has his issues and having a disabled and poorly child does have its challenges but I am glad I have him, however my son does not have life threatening issues, his problems are mainly related to his senses.

Have you been offered the cvs or amniocentesis?

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