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Antenatal tests

soft markers for trisomy 18

3 replies

SwellyBelly · 11/03/2011 14:07

Hi all

im carrying twins and had a double amnio yesterday. our decision to do the amnio was based on the need to confirm that there was no major issue - which would have been terrible with identical twins.

anyhow, i got a call from the doc today who has the results of the first set of tests, which shows there are 3 markers of trisomy 18. we have to go for a blood test on monday to chceck whether it stems from either me or hubby.

Im so frightened and afraid now, even though the doc says she thinks its likely ok as she couldnt see any physical evidence on the ultrasound.

just need re-assurannce if anyone out there has some to give!

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ErinH · 11/03/2011 19:37

soft markers for trisomy 18 range from heart defects VSD ASD (holes in various parts of the heart), choroid plexus cyst, excess amniotic fluid, clenched fists and rocker-bottom feet. It's hard to tell before 16 weeks if these markers are present in a scan but the DNA taken from the amnio will be able to tell you for certain if one or both of your twins has trisomy 18.
The blood tests can tell if you are your hubby are carriers of translocation cells that can cause this syndrome or if the chromosomal abnormality is a result of an error occurring at the time of conception or the spark that starts it.
Try and stay away from the internet, it's no help. The waiting is the worst part of all of this as you have nothing to cope with, just in limbo.
Reassure yourself that soft markers are very visible on the scan after 16 weeks and anyone trained would pick up on these straight away. If there are no markers seen on the scan then you are most likely ok. The amnio will give you the definitive answer. take care xx

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MyangelAva · 12/03/2011 20:26

Hi there, I just wanted to wish you luck- I really hope that your twins are healthy.

My baby Ava was diagnosed with Edwards after an amnio at 26 weeks. Her soft markers were a leaky valve in her heart and she was small for dates (3rd percentile growth). At 26 weeks they also detected overlapping fingers on one hand/ clenched fist. NT and bloods were all normal/ very low risk but amnio showed 3 copies of T18 in all her cells.

Look after each other x