Amnio Is Positive For Down Syndrome Baby Is Born Normal

4 Replies
Gra - April 20

If the amniocentesis result shows positive for Down Syndrome, is there any possibility that the baby does not have DS? Does anyone know? Thanks,

 

DownbutnotOUT - April 20

An amniocentesis is soo accurate like 99.4%-100% and if it says your baby has downsyndrome than your baby will be born with it. there are 3 different types of downsyndrome some mild to sevre, im not sure if they can tell you what type and how sevre downsyndrome your baby will have. I have a half brother who has trisomy 21 (downsyndrome) a moderate case and he lives a pretty normal life. if you want to know more about amniocentesis and downsyndrome "google" them there is alot of great info out there. Take care

 

Gra - April 21

Thanks DownbutnotOUT! I read a strories at "family.ie" website, which described "baby originally diagnosed with DS was born perfectly healthy and normal". And I also read a New York Times article "Woman Sues Over Genzyme Lab Test That Prompted Abortion". These 2 stroies made me quite worry about the accuracy of Amnio result.

 

DownbutnotOUT - April 21

I would be worried too. There was a mix up with my 3rd pregnancy and I failed my triple screen because of this but I pa__sed my 2nd lvl u/s. I read though that even than they can miss downsyndrome markers, I was told I had a 1:75 chance. Well I was scheduled to have an amnio done but the mistake was caught and everything turned out alright. I would have had her if she did or not. I did check out that story and its pretty scary that they made that mistake. have you talked to your dr about your triple screen results? if not maybe get that done (even though the accuracy isnt that great). Also did you have a level 2 u/s done to see if and how many soft markers the baby had? these will help either verify the amniocentesis or maybe determine if a mistake was made and the risk to the baby is nil. Good luck and I really hope things work out for you and your little one:)

 

Blondeglamazon - June 9

I am 36 years old and due in November. I recently had cfDNA and amniocentesis test positive for trisomy 21 but no markers shown on the ultrasound. Normal nuchal thickness, nasal bone present, normal length limbs. After revealing the news to my family my sister tells me that my nephew, who's 3 now, was diagnosed with trisomy 21 using cfDNA and amniocentesis BUT BORN PERFECTLY NORMAL. She had never told me this before I told my family about my test results. After finding this out i frantically searched for others who had a similar experience and she's not the only one!!! I asked her how they explained this and she simply replied "they couldn't". SO FOR ALL OF YOU WHO THINK AMNIOCENTESIS IS 100% ACCURATE ITS NOT!! 

 

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