Genetic problems - advice please

(9 Posts)
caza25 Tue 05-Apr-16 15:42:43

Hi, I had just had a 4th m/c, they have sent the baby away for genetic testing. Has anyone went through this and have they been given the results that they have genetic problems that are causing the misccariages? I am really worried that we have genetic problems and won't be able to have a baby.

sparechange Tue 05-Apr-16 15:54:33

I'm so sorry about your loss flowers
I have been through the testing process, but it varies a bit, so my experience might not be the same as yours...

I imagine they are going to do a karotype on your baby, which will make sure they they have the standard 22 chromosomes.
If they find everything is 'normal', then they will have ruled out a genetic or chromosomal problem, and they should refer you on for further tests to see if they can find what is causing your miscarriages.

If they find something wrong, it could be something inherited, or it could be really bad luck.
If it is something inherited, then you and your partner will be referred to see a genetic counsellor, and they will give you both a blood test to see which of you is the carrier of the faulty gene, as well as explain a bit more about what the faulty gene means. Even if you are a carrier, it won't mean every baby you conceive necessarily has the faulty gene as well.

If one of you has a faulty gene, you might qualify for IVF with pre-implantation genetic screening.
This is where they would remove some of your eggs and mix them with your partners sperm in a lab, as per normal IVF. But when the embryos get to be a few cells big, they will remove one cell from each one and perform the genetic test to see which embryos carry the faulty gene. Then only the ones without any problems will be put back into your womb.

This website is really useful www.rarechromo.co.uk/html/home.asp

Good luck with everything flowers

caza25 Tue 05-Apr-16 16:02:51

Thank you very much, this is really helpful

caza25 Tue 05-Apr-16 16:08:28

Do you know if there is a genetic problem, can you go on to have a healthy baby?

duckyneedsaclean Tue 05-Apr-16 16:12:00

Hi caza, it depends on the type of genetic problem and how it is inherited. So you may both be carriers, for instance, but have a 1:2 chance of a baby who does not inherit the fault.

If they find that there is a genetic cause they will go through all this with you.

KittyandTeal Tue 05-Apr-16 16:13:36

The karyotype they run on the baby will tell you if that baby had genetic or chromosomal issues.

If the baby had something like a trisomy (3 rather than 2 copies of one set of chromosomes) it can just be chance and no inherited.

To be able to tell if you or your dh have a genetic issue that is leading to reoccurring miscarriages then you will both need to have blood taken and a full karyotype run on your blood.

I'm sorry for your losses. 💐

caza25 Tue 05-Apr-16 18:55:05

Thank you

bananafish81 Wed 06-Apr-16 12:21:48

I'm sorry for your losses. I'm getting the results from the tissue testing on our recent miscarriage on Monday too.

If there is a genetic issue that one of you is a carrier for something then with IVF with PGD you can ensure that any embryo without the genetic problem is transferred

I have several friends who have had 4 miscarriages and their miscarriages were not due to chromosomal abnormalities. The NHS recurrent miscarriage clinics did the blood clotting disorders tests after they had 3 consecutive losses, and said they had just had bad luck and to keep trying. They miscarried again

They went private and got tested for immunological disorders and both were found to have very high levels of NK cells. Both were treated with steroids and intralipids infusions, plus blood thinners and both are now safely into the second trimester

The NHS won't test for this as they don't believe in immunes as a cause of recurrent miscarriage - but it very much is the case in so many women, who go on to a very healthy pregnancies after being diagnosed and treated

I've only had one miscarriage but we had the tissue testing done privately and I'm having the NK cells testing at the moment

Sending you love and strength xxthanks

caza25 Wed 06-Apr-16 19:43:09

Thank you for someone's messages they really help. Also sorry for your loses, I hope it all works out for us all.

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