Anyone opting out of genetic testing/additional screenings, etc?

mamakiss · December 2013

We aren't doing it. We're relatively young and have no family history of anything.

MrsGeekyPants · January 2014

I think its funny how people are saying " we have no family history so.." Mutations happen ! Things turn on and off when they are not supposed to due to enzymes and we opted to know ahead if our baby will have a problem . Having a trisomy isnt heritable its where crossing over goes wrong you end up with a baby who has serious health issues. Just my rant on why science ..

rheard3582 · January 2014

Didnt do it with DD1 and not doing it with this one either

Ktgirl1226 · January 2014

We dont plan on doing the tests either. There is enough to worry about without adding possible test result scenarios. If there is something wrong we will deal with it when it happens.

michellexm · January 2014

"2ag said: 'Ms Geekypants said: I think its funny how people are saying " we have no family history so.." Mutations happen ! Things turn on and off when they are not supposed to due to enzymes and we opted to know ahead if our baby will have a problem . Having a trisomy isnt heritable its where crossing over goes wrong you end up with a baby who has serious health issues. Just my rant on why science ..' So glad someone finally pointed this out! Family history doesn't matter when you you are looking at conditions caused by random mutations." -------------------------------

And trisomies like Downs aren't even mutations, they happen when your genes don't split properly into their new cells and you end up with too many chromosomes in one cell (not when one nucleotide base is substituted by another, which is a true mutation, and could also be worrisome or benign)! Trisomies could happen to anybody, and this is why the "no family history" claim drives me a little batty.

While statistically you are more likely to have a trisomy if you are 35+, most babies with Down Syndrome are born to those under 30 (because people under 30 birth more babies). Youth and lack of family history are bad excuses for ignorance. Sorry.

michellexm · January 2014

"2ag said:

"2ag said:

'Ms Geekypants said: I think its funny how people are saying " we have no family history so.." Mutations happen ! Things turn on and off when they are not supposed to due to enzymes and we opted to know ahead if our baby will have a problem . Having a trisomy isnt heritable its where crossing over goes wrong you end up with a baby who has serious health issues. Just my rant on why science ..'
So glad someone finally pointed this out! Family history doesn't matter when you you are looking at conditions caused by random mutations."

-------------------------------

And trisomies like Downs aren't even mutations, they happen when your genes don't split properly into their new cells and you end up with too many chromosomes in one cell (not when one nucleotide base is substituted by another, which is a true mutation, and could also be worrisome or benign)! Trisomies could happen to anybody, and this is why the "no family history" claim drives me a little batty.

While statistically you are more likely to have a trisomy if you are 35+, most babies with Down Syndrome are born to those under 30 (because people under 30 birth more babies). Youth and lack of family history are bad excuses for ignorance. Sorry.

I've always seen aneuploidy described as a mutation in the literature. There are other types of mutations besides the point mutation you described. I agree with everything else, though."

-------------

Technically true; I just always think of gene mutations rather than chromosomal mutations like aneuploidy when thinking of mutations as a general term. I usually see aneuploidies described as chromosomal aberrations or abnormalities in literature.

ashcross · January 2014

We are 12 weeks and have done the standard blood testing for Cystic Fibrosis and Down Syndrome, we are also being tested at week 16 for Spina Bifada but all of these are blood work and ultrasound tests. My husband is a Physician and I have done extensive research. There is absolutely no reason to do CVS testing or Amniocentesis unless you have a family history of these illnesses or you are receiving negative results or indicators from you blood work and ultrasounds.

michellexm · January 2014

ashcross said:
We are 12 weeks and have done the standard blood testing for Cystic Fibrosis and Down Syndrome, we are also being tested at week 16 for Spina Bifada but all of these are blood work and ultrasound tests. My husband is a Physician and I have done extensive research. There is absolutely no reason to do CVS testing or Amniocentesis unless you have a family history of these illnesses or you are receiving negative results or indicators from you blood work and ultrasounds.

Most in this thread seem to be opting out of noninvasive testing (like NT scans and blood work), never mind the invasive testing like CVS or amniocentesis.

hupp0013 · January 2014

Our doctors haven't offered additional testing outside the normal screenings. I would opt out of them because we do not have any risk factors.

Erin1510 · January 2014

I'm doing the NT scan today actually. I have no family history (immediate or extended) of cystic fibrosis so I'm not doing that. My husband wanted the NT scan done so I obliged. Plus, it's another chance to see the little one.

MrsLele · January 2014

Erin1510 said:
I'm doing the NT scan today actually. I have no family history (immediate or extended) of cystic fibrosis so I'm not doing that. My husband wanted the NT scan done so I obliged. Plus, it's another chance to see the little one.

I have zero family history anywhere of CF, and yet both myself and my sister are carriers. Thankfully, DH is not so we are safe. It's just additional bloodwork, they already take your blood anyway.

As far as the NT scan and quad screening, we do this to be prepared as possible. I hate the assumption that people won't "love their baby, no matter what" just bc they have these screens done. I have a handicapped aunt, and I know what it takes to take care of her. I would want to start researching and preparing as much as possible, if our child were to have any of these conditions.

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Anyone opting out of genetic testing/additional screenings, etc?

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