PGD - please share with me your knowledge and experience

[HerbertSnodgrass]

I need to know more about PGD. I may need to consider this as an option if I want to have another child. I have a layman's understanding of what it is, but have no real concept of what it truly entails, like timescales for the entire procedure, waiting times on the NHS, and the associated burden both physically and emotionally that I'm sure it brings.

I've been avoiding thinking about this since having my first child, who is thankfully of normal karyotype, but I'm 36 and need to consider my options if I want another baby (and I do). Frankly I'm in denial because I know the anxiety another pregnancy is going to entail.

Can you share with me your experience of PGD if you have had it yourself, or if you are a health professional working in the field? Thanks.

What is PGD?

PGD is preimplantation genetic diagnosis. It's a way of screening embryos to avoid passing on a genetic disease, for example.

This is a link to some information about the PGD carried out at UCL here There is a website address for a patient support group on that web page.

• the little I know is that you can either test for common trisomies (eg.trisomy 21,13,18) - or test for something which there is a high risk of (eg. screening for unbalanced translocation products if mum or dad carry a chromosome translocation). If you are in the 'translocation' category then the test has to be 'tailored' particularly for your situation so that can take time to get done before you begin the IVF etc.

They can do some single gene diagnosis too- I know the people who run the UCL service, but honestly the link Millarkie should answer most of your questions. Did you manage without any kind of antenatal screening last time, or is this a new situation?

Thanks very much for the link.

I have an 11;22 balanced translocation. (the 'classic' one; 22q11; 11q23) I only found this out when I was already pg with my dd. An amnio showed her to be completely normal, but waiting so long to find out was torture, and the prospect of what I might have found myself considering had the result been less fortunate was dreadful, especially at such a late stage of pregnancy.

I was so lucky, really.

The alternative next time to pgd is to try the 'Russian roulette' approach of getting pregnant naturally next time, but the odds of miscarriage or even unbalanced tl suck. If I did choose that approach, I would want to have CVS done instead of the amnio so that any decisions could be made at an earlier stage. But I don't know how I would cope with making that kind of decision.

Unfortunatley this time round there was so little understanding from the HCPs of the condition and its risks, and even less of what lab tests needed to be carried out to ascertain the baby's status, that they fluffed the necessary timescales and we missed the window of opportunity for CVS.
I had to wait several long weeks for an amnio, keeping my pregnancy a secret until 18 weeks.

The care I received was really frustrating, actually, particularly from the geneticist, who hadn't bothered to do her research at all.