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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Full amnio result - what did they test for?

8 replies

12yeargap · 19/10/2006 11:02

Had an amnio about 3 weeks ago, got the early results back fairly quickly, negative for Down's. Edward's, Patau's. Then a couple of days ago the midwife phoned to say the full amnio results had come back, no abnornmalities detected. So that's great, but what else did they test for? The midwife didn't know, she just said its a "full check" of the babies chromasomes. Can't find much on the internet, everything focuses on Down's/Pataus/Edwards.

Basically, I'd like to know if I can now be confident the baby does not have Cystic Fibrosis, Turner's syndrome, William's syndrome, Prada-Willi's syndrome, and, well, they're the only ones I've heard of, I'm sure there are more. Does anyone know?

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Are your children’s vaccines up to date?
MerlinsBeard · 19/10/2006 11:04

Is it not that they test for downs/edwards/patau's and then for further abnormalities that may not be down to one particualr thing?

I could be wrong but thats what i had thought it was. also, am not sure that prada-willis can be diagnosed antenatally but again i know very little about that too.

MerlinsBeard · 19/10/2006 11:06

sorry, realised taht was a really useless post and would have been better if i had nt said anything! oh well, it kept your post near the top

12yeargap · 19/10/2006 11:30

not a useless post atall, didn't know that about Prada-willi, any advice useful.

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eidsvold · 19/10/2006 12:38

Pretty sure prada willi cannot be detected antenatally.

eidsvold · 19/10/2006 13:18

i stand corrected - can use amnios and cvs but looks very detailed: and I quote:

"Prenatal testing for PWS might also be done in cases where a genetic study of the fetus (through chorionic villus sampling?CVS?or amniocentesis) shows abnormalities that raise suspicion of PWS. In one case, for example, a routine chromosome test done through CVS early in a woman?s pregnancy found that some of the baby?s cells had three chromosome 15s (called mosaic trisomy 15). This led the doctor to order a molecular test for maternal uniparental disomy (UPD) in the remaining cells. The test results showed that the baby would have PWS due to UPD."

taMummy · 19/10/2006 13:28

PWS can only be detected if you go looking for it, sane with CF and anything else that doesn't lead to gross chromosomal changes. So no, they won't have checked for most of the things you list but will have checked for Turner's.

eidsvold · 19/10/2006 13:31

that is what I thought ta mummy - have a friend who has a dd with pws.

taMummy · 19/10/2006 13:33

It's the old needle in the haystack thing really- you can detect any genetic disorder if the gene has been identified, pretty much, but there just aren't the resources to check everyone for everything, and it's far from clear that it would be good if we could!

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