2 soft markers

[cantpooinpeace]

my BF had an amnio on Mon as her DD 21 weeks was found to have a missing kidney and a cleft lip?

She also suffered a neo natal death two years just gone to a baby boy at 38 weeks. She has completely ruled out the chance of these findings being isolated and the wait for genetic results and the possibility of a termination is torturing her.

Anyone know anything about these soft markers or chances of them being two isolated cases???

From the research I've done, any soft markers other than nuchal fold can easily be isolated cases, even if there are two or three of them. We had only greatly enlarged nuchal fold (and a cystic hygroma, which is basically a sac of fluid on the neck separate from and in addition to the nuchal fold), no other soft markers, but that in itself was of considerably higher significance than any three other soft markers (e.g. missing kidney, umbilical cord missing a vessel, short femur length, cleft lip, etc) combined.

Obviously I've not looked specifically for studies on those two soft markers, but yes, there is certainly a good chance of them being isolated - I'd have preferred the odds on those two than the odds of 1:3 we were given just for the nuchal fold size alone (without the hygroma complication). I can't remember the exact figures but I do remember the risk for two or even three other soft markers combined being lower than that - meaning the chance of normal chromosomes has to be higher than 70%. As it was, the wait for the amnio results was excruciating and I sympathise with your friend - but in our case the results were worth waiting for & the baby's chromosomally normal.

I really hope your friend has good results too, especially after all she's been through. Was she given a reason for the neonatal death and any genetic counselling if relevant? Presumably she'd have been given a scan around 12w with her history and that would have shown an enlarged nuchal fold if present?

They couldn't get an accurate measurement of the nuchal fold at 12 weeks. She had some results today to say it is definitely not one of the more common genetic disorders ie Edwards, Downs, Pateau. Has to wait longer for results on the more rare conditions.

Her DS who unfortunately died was found to have no congenital defects, he aspirated a large amount of muconeum but no answers as to why he may have been distressed at inquest or PM :(.

Thanks for your post - she read it with me tonight and it did answer some of her questions. Hope you and your baby are still doing well,