CVS at The Fetal Medicine Centre

[Popsandpip]

I could really do with some advice. I’m currently about 5 weeks pregnant and am aged 39. I’m considering booking myself in for a CVS at the Fetal Medicine Centre. My thinking is this:

My age counts against me.
We have another child already and (please, please, please don’t judge us) but my DH and I do not want our (and their) lives to change in the way a Down’s Syndrome child would impact us.
A very close friend of mine recently had a child with Down’s Syndrome. Her scans didn’t indicate high risk but someone’s going to be the ‘1 in…’, right? Unfortunately, it was her baby. There are huge emotional and practical implications for her and her family.

I know the nuchal fold scan and the harmony test will give me an understanding of my risk but won’t give me a categorical answer. That’s right, isn’t it?

It would be helpful to hear your thoughts and experiences as I’m wondering if I’m over-simplifying my decision process or I’m missing something about the harmony test.

Also, the date of my last period was 3rd November. My cycles are irregular and tend to run long. I think I conceived 19-21 November. How would you calculate my due date and when to have the CVS scan if I decide to go for it?

Finally, Professor Kypros Nicolaides is very highly rated on this site. Why? What makes him so good? What are you experiences of him?

I know I have lots of questions but I really appreciate your thoughts. Thanks.

Hi there. I don't have any experience of a CVS so won't comment, but I did see Mr Nicolaides with one of my pregnancies and he was lovely. Confident, gentle, gave very sensible and helpful advice.

All the best with your pregnancy.

I had the harmony test done recently. It gave me a definitive yes/no answer, not a risk. I am over 40 and wanted to know for definite but knew the risks of amnio/cvs are relatively significant.

Look into the harmony test. It's very easy, just a blood test and the results back in less then 10 days.

Pops - quite honestly I would book yourself in for the Harmony package at FMC. I won't rehearse the facts and figures on their website as I am sure you've read it, but £400 gets you a viability scan, Harmony test, nuchal scan and bloods, and CVS if Harmony or the nuchal scan results suggest it is warranted. I would then have this discussion with the doctor who is scanning you, and see what they think. They will also advise you on dates and CVS when they see you. The downside of CVS is of course the risk (however small) of losing your pregnancy: even though FMC has excellent results in this regard, if all the screening tests suggest you are very low risk, why would you take this chance.

Professor Nicolaides' reputation speaks for itself - he is pretty much the preeminent fetal medicine specialist in the UK (if not the world) - he pioneered the nuchal scan, founded the FM foundation and his name appears on countless research papers. I understand from friends that he is also an incredibly nice and sensitive doctor although I haven't met him personally.

Remember that you can't make having a baby risk free - even if you can categorically rule out a child having DS there are countless things that even a CVS won't pick up (severe sensory disorders being one example) and the risks of birth itself.

Best of luck whatever you decide.

Thanks cranky. I appreciate you taking the time to reply.

It should be such a happy, happy time but I just find I'm anxious and fearful. I'm so delighted to be pregnant and I just want what's best for the baby and the rest of my family. I just won't be able to relax into it properly until I know for sure everything's OK.

Thanks for the speedy replies 3little and Sonoma. Your thoughts are really helpful.

Harmony is not quite as definitive as CVS but almost. It has very very few false negatives - you're more likely to get a false positive in which case you could have a CVS after you get the harmony result.

In fact even a CVS is not completely definitive as it tests the placenta - it's possible (though very rare) for the baby to have Downs but the placenta not. or if there is mosaic Downs (ie in some cells only) then it's possible for the cells they test to be normal. so you can get a false negative with a cvs.

you can have the harmony at 10 weeks at the fmc, results back at 12 weeks (or possibly earlier if they find anything bad). I believe 11.5 weeks is about the earliest you could have a CVS anyway (if you do it before then it can cause limb malformations) so not much time lost by having the harmony first. I expect the FMC would strongly advise you to have the harmony first.

As has already been said, there are many conditions that cannot be picked up by ante natal testing, autism for example. Or disabilities that arise because of birth trauma, or because of illnesses in early childhood, etc. No way to exclude risk completely.

In your shoes, I would book the Harmony package at FMC, you have a scans & bloods taken at 10 weeks, then go back at 12 weeks for results and a nuchal scan.

Although not absolutely definitive, the Harmony result will come back very good (1/10,000) or bad & in that case a cvs or amnio will be offered for free. I personally wouldn't have an invasive test because having Harmony first at least.

I've just had my results, all great and would highly recommend the FMC, very professional and friendly. Good luck.

Harmony package at the FMC all booked for January. Thanks all for your thoughts and advice. Much appreciated.

Good luck, let us know how you get on x

A cvs or amnio doesn't show everything . You need to be aware of this .We had a cvs with our son which came back clear . He actually has a genetic condition which presents similarly to downs. The cvs/ amnio only looks for certain things.

That's true bish, in most cases the CVS or amnio (and harmony) will only test for the three most common chromosomal conditions, downs, Edwards and Patau.

if there is reason to be concerned about a rarer condition (or if you ask and pay extra) they will do a full karyotype test on the cvs or amnio sample, which looks for rarer chromosomal issues, but even that does not cover every possible genetic condition. bish I hope your son is doing well.

And again, any non chromosomal/genetic conditions definitely won't be picked up by a CVS or amnio, or harmony.

OP I hope the harmony goes well for you.

My son is doing well although he has delayed development much like a child with downs would have . He only started walking at 3 ish and doesn't talk yet ( he is 3 and a half ) . I was so naive as I presumed That the worst case scenario was a missing or extra chromosome but this simply isn't true .

I might add my son is a joy but this is not the life I chose and I thought having a cvs was giving me all the information I needed to make a decision about our future . I don't normally share this info but the op manner is very matter of fact so I thought a matter of fact reply was in order . The truth is choosing to get pregnant opens you up to no end of different scenarios and I've met people who had normal pregnancies but have had Prem babies who now have cp and are in a similar boat to me .. Having babies is a risk full stop .. Sometimes you get lucky , sometimes you don't .

Finally I will just add I know someone who had an amnio and her son has a well known genetic condition . They just didn't pick it up .

Agree with posters who said that a CVS only picks up the major chromosomal abnormalities. It can only detect what it tests for. It does not pick up the less common chromosomal abnormalities, genetic disorders or learning difficulties.

If I were you, I'd just do a non-invasive harmony test and the usual nuchal fold before deciding whether to do a CVS. There are (minimal) risks of miscarriage associated with a CVS. I had to have a CVS because my dd's 12 week scan showed soft markers for abnormalities. I would not do it just because of my age.

I had my CVS done at Kings College Hospital by a medic under the direction of Dr Nicolaides. It was the medic's first time attempting a CVS and thankfully was successful. It was uncomfortable (the needle has to go through muscle) but not agonising.

Bish thank you for sharing your experiences with me. I appreciate your honesty and openness.

It sounds like your son gives you much joy but also you face challenges with him. I trust the joy far, far, far outweighs those challenges.

Pop .. I wish that someone had told me that info when I was pregnant as I literally had no idea . My son is totally amazing but he is 3 and is very very cute .. The genetics team have warned his developmental age may plateau at some point . Now if that is soon we are in trouble , if it's 15/16 I think we will be ok . His condition presents a little like Down syndrome so I will probably have to care for him forever either way . I am honest and I'm happy for you to pm me if you want to . It's an interesting / tiring / difficult life but it is what it is and I couldn't love him anymore .

Just an update for those who might be interested. Had all our by gal fold and harmony test results back today - all indicating exceptionally low risk levels. Thank you for your thoughts and advice.

Great news you are very low risk. Hope it's put your mind at rest.