Guide me mommas, on which...

jessica6283

genetic testing you did...

My office handed me paperwork for...

1. Cystic fibrosis Carrier screening.

2. SequentialScreen (which looks like the NT scan.)

3. Carrier testing for common genetic diseases. (CF, Spinal Muscular Atrophy, and Fragile X syndrome).

What did you have done for testing? Do you recommend all three? Any other words of wisedom?

JenJar

Honestly, insurance didn't cover the testing and it wasn't a requirement of our offices, so we opted not to do any of them.  We did the normal bloodwork at the beginning of the pregnancy and our routine 20 week ultrasound, plus an extra ultrasound at 13 weeks due to bleeding.  If we had a family history of any of the birth defects, etc., I would have done it.  But, we don't, and we knew we'd continue the pregnancy no matter what.

emiliemetcalf

Are you still with CNY Women's Healthcare?  My DH and I had all of the testing because he is adopted so we have no idea what his genetic/family history might be.  CNY Women's said it might be covered by my insurance, but there was no way to know until after the testing.  So, now a year later and several resubmits to the insurance, I just paid $304 to Genzyme (the testing co). 

We wouldn't have aborted even if anything had been found, so looking back I think we shouldn't have done the testing, but I felt really pressured to do it.

Cutemin

None.  We opted for no testing because we would not abort unless there was something serverely wrong and no chance of baby surviving outside the womb like missing vital organs or something.  And for the most part, we would have seen anything that severe on the routine 20W U/S.  

aSp6907

Besides the routine blood draw we only did one test for down syndrom. I don't remember the name of it but it was a fairly new way of testing. It was a finger prick and then they did an ultra sound. They wanted us to do a test for Cystic Fyrbosis because DH has a 1st cousin with it. But we opted not to do it. They were fine with it and just took a really good look at the spine during our 18 week u/s. My dr. office gave me paper work for tests too but it was our choice if we wanted to do them. We opted not to do any testing.

MelissaSue81

We definitely did both 1 and 2. The CF one was actually before i was pregnant (when we saw the RE). I had a 50% chance of being a carrier, so i was VERY relieved when I wasn't..  We just did the NT scan though, not the entire sequential screen.. but that just depends on the dr. office.  

I don't know if I was screened for the other diseases.. I am thinking no because I had no family history. 

BelhurstBride

1) Are you in a risk pool? Are you okay with extra u/s? (assuming you're not in a risk pool.)

2) Does your insurance cover it? Would you pay for it if it wasn't?

3) If the initial screen comes back that you're at a higher risk are you comfortable with an amnio?

BitsyKelly

The CF screen was part of my initial blood work, part of the script, so they never gave me the option to not do it.  We also had the NT scan where they do the finger prick for Downs at that time.  Never had any extra tests done.

jnk062602

Cutemin:

None.  We opted for no testing because we would not abort unless there was something serverely wrong and no chance of baby surviving outside the womb like missing vital organs or something.  And for the most part, we would have seen anything that severe on the routine 20W U/S.  

I see this said a lot on the boards.  And I know that no one on this board is insinuating the alternative.  But we did all the testing that you could do that wasn't invasive.  I was not high risk and didn't want the amnio, but we did the others.  We also would not abort either way.  But we wanted the testing done so that we could be prepared.  I figure that when you are looking for pedis or daycares, some of the things you would be looking for are different if the child has different needs.  Or even may want to meet with the nicu if certain medical concerns would be important for early monitoring, like in cystic fibrosis or downs syndrome.  Also, on a personal note, I would want to "grieve" and come to terms with it before the baby was born so that the day of the delivery wouldn't be shock and sadness because I would want to have any baby be born into happiness and I would feel guilt over it if I didn't start his/her life that way.

jewelsonu

jnk062602:

Cutemin:

None.  We opted for no testing because we would not abort unless there was something serverely wrong and no chance of baby surviving outside the womb like missing vital organs or something.  And for the most part, we would have seen anything that severe on the routine 20W U/S.  

I see this said a lot on the boards.  And I know that no one on this board is insinuating the alternative.  But we did all the testing that you could do that wasn't invasive.  I was not high risk and didn't want the amnio, but we did the others.  We also would not abort either way.  But we wanted the testing done so that we could be prepared.  I figure that when you are looking for pedis or daycares, some of the things you would be looking for are different if the child has different needs.  Or even may want to meet with the nicu if certain medical concerns would be important for early monitoring, like in cystic fibrosis or downs syndrome.  Also, on a personal note, I would want to "grieve" and come to terms with it before the baby was born so that the day of the delivery wouldn't be shock and sadness because I would want to have any baby be born into happiness and I would feel guilt over it if I didn't start his/her life that way.

I feel the same as jnk.  I would want to do all the research I possibly could.  Plus my insurance paid for the NT scan and I wanted an extra U/S.  This time we have to pay $40 for the U/S.  We are still going to to do it.

goosh24

jnk062602:

Cutemin:

None.  We opted for no testing because we would not abort unless there was something serverely wrong and no chance of baby surviving outside the womb like missing vital organs or something.  And for the most part, we would have seen anything that severe on the routine 20W U/S.  

I see this said a lot on the boards.  And I know that no one on this board is insinuating the alternative.  But we did all the testing that you could do that wasn't invasive.  I was not high risk and didn't want the amnio, but we did the others.  We also would not abort either way.  But we wanted the testing done so that we could be prepared.  I figure that when you are looking for pedis or daycares, some of the things you would be looking for are different if the child has different needs.  Or even may want to meet with the nicu if certain medical concerns would be important for early monitoring, like in cystic fibrosis or downs syndrome.  Also, on a personal note, I would want to "grieve" and come to terms with it before the baby was born so that the day of the delivery wouldn't be shock and sadness because I would want to have any baby be born into happiness and I would feel guilt over it if I didn't start his/her life that way.

This entirely.  My DH is adopted and we have no medical background, so anything that could help us prepare, that wasn't invasive, we wanted.  It didn't hurt that insurance covered it all too and to be honest, hearing the odds after the testing was a nice relief too.