DH and I are carriers of a genetic disorder. A 1 in 4 chance of a baby being a sufferer, which would require some treatment at birth. GP, CMW & Hosp will not refer to a Hosp with experience in the condition, unless they have some form of 'evidence'. Long story we couldn't do CVS (issues with location).
We are considering amnio. It has the obvious pro of hopefully telling us conclusively if there is an issue, but the con of the risks.
If we don't go for amnio, AFAIK they wouldn't offer any extra scans or anything else as there wouldn't be 'evidence' of an issue.
I am nearly 15 wks. Not seen anyone at PND/consultant yet. My handheld notes refer to us being carriers, but do not mention the accurate COD previously for our son - genetics agree this is important (seemingly no-else involved in my 'care' does).
I have been in a similar situation(chromosomal disorder possibly genetic) and was reluctant to test with the amino. Luckily my dr was very straight forward; she said the statistics about causing miscarriages etc mean nothing- pregnancy is a mystery, some babies make it some don't. The test won't cause a miscarriage unless that was the likely outcome anyway - which you will never know. She also said that the test is rarely performed on babies who aren't high risk anyway to further skew the results.
I'm surprised you're not offered specialist prenatal screening. They deal with this daily and can pick up sooo much more than the usual scans. The disorder they discovered with mine was amazing and fairly conclusive without the test. I was 99.9% certain of the amino outcome from the scan which was good as there was less pressure. Please consider this even if you have to pay as the later you leave it the more difficult your decisions could be.
I wish you the best of luck, it's a stressful time. Stay positive, 1 in 4 chance is only 25% (I realise that it will still be hard).
why is the genetic disorder your carriers of ? if you don't mind asking. for scans we can only see structural issues, not chromosomal problems. Amnios now carry very low risk and I'm assuming if you couldn't have Cvs done your placenta is posterior and far away from exit? which would make amino easier and thus reduce risk ?
Sorry, thought I'd point out that although it is our choice not to terminate in this situation, in no way shape or form do I judge anyone else who does/has chosen to. It is a horrible, hard decision to make and each of us has to do what we think best for our circs.
I completely agree with your consultant. if you wouldn't terminate then why increase your miscarriage rate. will you have your anomaly scan then scan at 26 and 32 weeks? depending on these results will your baby be offered a post natal scan too? they are within our hospital.