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PCD Family Support Group (UK)
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Starting a family


I myself have PCD. My husband and I are trying to start a family.

We knew that IVF would have to be the only option for us, but we have hit a brick wall re genetic testing/screening which has been recommended to us by the private IVF clinic.

I can’t seem to get an idea of just how likely it is for me to pass it on.

Has anyone else been in a similar situation... I’m beginning to feel quite frustrated with the process and hoping I may seek some advice/answers here.

I’m advance, Thank you so much!

Kind regards


17 Replies


This link might help ....


If you partner is a carrier then there is a 50% chance of you having a baby with PCD. If he isn't then you can't pass it on but your children will be carriers.

The genetic tests for PCD are still not 100% reliable as they don't know all the genes associated with the condition. If you have one of the 37 genes they have found then they could then test (in theory but you would need to find a genetic centre to do it for you) your husband to find out if he is a carrier for PCD.

Good luck



Thank you Fiona!

I’m having such a battle at the moment trying to move forward with IVF, this is helpful.

If there is any other advice,information, or contact I can pass on to IVF consultants that may be helpful I’d be very grateful.

Kind regards



Unfortunately there isn't any research on IVF for people with PCD ... you are going into uncharted territory.

Assume you have read these pages and watched the videos too ....http://pcdsupport.org.uk/what-is-pcd/raising-a-family-30-years/fertility-issues/

Good luck



Research has been done and sucessful cases were confirmed, just not extensively. You can find an example here:


There are more papers that support positive outcomes with ivf for female and icsi for male infertiliy problems.


Hi thanks for this... anecdotally they think that 50% of people with PCD have infertility but there is no evidence on this.


According to research around 50% of women with pcd have fertility problems and I've read that virtually all males have severe fertility complications. More info here: uptodate.com/contents/prima...

As medicine and technology advance there will be new methods to help one conceive. It can however be very frustrating and heartbreaking on the path to starting a family. Patience is key here, which I'm afraid I'm often lacking.


That sounds right, Thank fully I was prepared for this from the age of 16. At this point it’s whether we go through the process of screening, or whether we just skip that and go straight for IVF without it.

It’s so lovely to hear a successful treatment though :)


It depends on whether your husband is a carrier or not. If he is, you would have a 1 in 4 chance of passing it on, if he is not, the chance is minimal. However, I would see if you can speak to a specialist /geneticist who can counsel you further and offer testing for yourself and your husband. I would imagine that if you know what genetic mutation you have, they should be able to offer pre-implantation diagnosis with IVF. I hope that helps!


Hi Francesca!

I have just went through the exact same situation you are having, except I am a male with PCD while my wife is healthy.

I have had consultations with a genetics specialists and have had genetic testing done - Whole

Exome next-generation Sequence (WES) analysis. A homozygous CCDC40:c.2440C>T variant

was identified in exon 14 of the CCDC40 gene, which is an extremely rare form of the disease, according to my genetics specialist that interpreted the results. She gave us her approval to go through the IVF ICSI process without my wife being screened because of the rarity of the mutation and everything would take too long to do and we just didn't have that much time to wait.

Fortunately my wife was healthy while I had a svere case of complete asthenozoospermia, that is, 100% immotile spermatozoa, but with some living, usable sperm, which was reason for us to have the ICSI procedure.

We went to a private clinic where the doctors and staff were very knowledgable and supportive. Suffice to say, the ICSI resulted in 3 fifth-day blastocysts. Our first attempt was not succesful. Nevertheless, we have recently performed our second transplant and I'm happy to say that my wife is currently 8 weeks pregnant! Her blood results are optimal, the first ultrasound went great, and were waiting for our next one where we are hoping to hear more good news.

From what I have gathered, there is an extremely low risk involved in you passing the disease to your child. He will obviously be a carrier, but there is no chance of him being sick unless by some extreme circumstance your husband is caring the same mutated gene. And even than there's only 1/4 chance that your child will be sick. If you want to be 100% sure than get genetic testing done. When they isolate the gene that is causing your problems, than they can check your husband for that particular gene to see if it's mutated as well.

For reference, I had my testing done (blood sample sent via mail) in Antwerpen, Belgium, GENDIA lab. You can google them.

Best of luck,


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Thank you so much for your time in writing a reply and it’s so lovely to hear your wonderful news!

Wishing you all the luck with your future family :)


Thank you all so much. I can’t even begin to explain how refreshing it is to speak to people who have experience and an understanding of PCD.

Without boring you with detail too much, when we i a genetics lady about 8 years ago, she said the chances of passing it on were so minimal and I didn’t think any more of it.

Now we’re trying to go private for IVF after a long process with NHS they (understandably) would like more info on previous genetic testing. I have had it done, but only for research purposes and never heard anything back. My Gp for some reason doesn’t have record of my full medical history, only parts so Becoming a very painful and stressful process.

The more i read and find out, the more comfortable I am with not having any genetic testing or embryo screening at all as it is so unlikely and rare to have the exact same gene as my husband, but of course a decision we didn’t want to make lightly.

Thank you so much for advice, help and feedback everyone

Kind regards


me again - have you tried asking the consultant who Diagnosed you with pcd whether they know your genetic results? If you email me I can point you on the right direction. Chair@pcdsupport.org.uk fiona


Correct me if I am wrong, but I thought that if an individual in a partnership has PCD and the other is a carrier, then there is a 1 in 2 chance of any pregnancy producing a child with PCD.

So long as a PCD person is with a partner that is not a carrier, then any children will not have PCD, but would automatically be a PCD carrier. I was told when I had my daughters that because I have PCD, they are carriers of PCD.


Hi Francesca! I have PCD and almost had a IVF, but it was not necessary. I was afraid like you, but my baby is perfect! My husband doesn't have this disease. The site pcdsupport.org.uk helped me a lot! The only problem was I had 3 pneumonies caused by pseudomonas aeruginosa and it was a suffering for me because I had to do intravenous antibiotics, and my daughter borned premature. Altgough, she is perfect, without anyone respiratory problems. I hope is going be fine for you and for your family plans! Sorry about my english, it is not very well :)


Thank you everybody so much for your comments. It has been a great help in us coming to a decision not to have our embryos genetically tested.

Our next step is to meet with our clinic, have genetic counselling and then they will come to a decisions whether they are happy to support us through IVF without the testing- I REALLY hope they do!! As there is so much evidence to show how slim the likelihood is of passing it on!

It’s amazing to hear how many successful, healthy pregnancies there have been with and without help- huge congratulations!

I really do feel lucky that whilst we can be very poorly, generally, with a healthy lifestyle we can live a long, happy and ‘normal’ life!x



I’m 28 and was diagnosed with pcd when I was 5.

I’ve got a very healthy 6 month old baby boy! I was told of the complications of having children and possibly needed ivf. Turns out I didn’t need ivf! I think I was more worried about etopic pregnancy but my little one was a surprise and thankfully My pregnancy was the healthiest I’ve ever been (which no one was expecting). I’m normally in hospital 4/5 times a year for ivs, but while I was pregnant I had no infections at all. Unfortunately they started to come back after I had him! but then nothing good can last forever eh :-)

I just wanted to share my positive experience with you as I know what it’s like to be left a bit in dark about starting a family with PCD.

Wish you All the best!


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Hi Hayley!

Thank you so much for taking the time to respond to this! I’m sorry for my late reply! I’ve only just seen your comment.

This gives me so much hope! We have just had our first (unsuccessful) round of IVF and gearing up for our second.

That’s wonderful news to hear how healthy you were during your pregnancy as that is a concern of mine.

I hope you keep as well as possible, and enjoy making those amazing memories :)

F x


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