Home Genetic screenings

[snlee]

So I know there''s been a lot of talk about genetic screenings and tests in the TTC thread and the Pregnant PS''ers thread but I thought it would be useful to have the information all in one place for easy reference.

I''m trying to decide if I should get the Integrated screening, which is the Triple marker (AFP, uEST, hCG) blood test and the Nuchal Translucency (NT) screening - u/s & PAPP-A Blood Test as well as the Cystic Fibrosis Test.

I''m not sure if my insurance will cover the triple marker test since it''s experimental from what I''ve read. My doctor''s office said it’s supposed to be done between 15-20 weeks, but I''ve also read it can be done during the first trimester. So I''m a little confused about that.

I think all of us can''t help but worry about our little ones. I worry that something may be wrong, but even if I take these screening tests to assess my baby''s chances of having certain chromosomal problems, I''d only be left with a ratio of the chance it could happen. A ratio of 1 to 3000 or something wouldn''t make me worry less. The false positives and negatives combined with my age (25) makes me lean toward forgoing the triple marker and NT screenings. But will I regret it? What is your experience?

I was going to take the Cystic Fibrosis Test since my insurance covers it. However, there''s only a 1 in 8,100 chance both partners are CF carriers for Asians. From what I''ve read it''s pretty rare for Asians to have this illness. I''m leaning towards skipping this test too.

I''ve discussed this with my DH and he doesn''t have any strong opinions for yes or no, which makes the decision difficult. Please share your thoughts and experiences.

 

[diamondfan]

I think you can just have hubby tested for the CF gene. If he does not have it, then your baby will not, as both parents need to. If he does not, then your child would only be a carrier if you had the gene, but he or she would not have CF. It would only matter if he or she married another carrier.

Since it is not common in the Asian pop, I am not sure I would worry too much.

the other tests, not sure. A lot has changed since I had my youngest. You are young and a lot of these tests are not covered, but I would speak to a genetic counselor so I made informed choices. I would rather know as much as I can, but as you stated, false positives and negatives are not of much value!

Good luck...it is scary navigating all of this.

 

[brazen_irish_hussy]

Unless you have reason to suspect health problems I wouldn''t worry. However, when the baby is born, I would get ALL the tests done. Most states only require 10-20 of the tests done on the child, but there are over thirty they can do. This is especially important for PKU which is not usually tested for but critical to catch onto early.

 

[Tacori E-ring]

I think you need to ask yourself, would you still have the baby if something comes up? would you spend the next 6 months worrying or would you want to prepare? Are you worried about false positives? (ask MrsS about this one). I did have the AFP (after MUCH debate) but since it was noninvasive DH and I finally decided to get one. Would I for the next baby...I don''t know. It was stressful!


My insurance did cover it.

 

[lili]

snlee--
i may be wrong on this, but i thought the AFP and NT are standard now.
well at least they are with my hospital, so the insurance should cover them.

anyway, i didn't do the AFP test because we knew that we wanted to do the amnio from the get-go.
since the AFP is a screening, there are possible false positive or negative like you said.
we didn't want to go through the anxiety and stress over it, plus no point in my getting pricked since i was going to do the amnio.
i would, however, do the NT test even though it is a screening just because i'd get a chance to see the little one on the u/s.
i didn't get to do that test because i was pass the window when i had my appt.

anyway, when we met with the genetic counselor, the test that she recommended for me (being that i fall in the advanced maternal age group) was the amnio or the cvs. she didn't feel that we need to go for the other tests (like CF) since both hubby and i are asian and our chances of having a baby with those defects are minimal.

ETA: the amnio was covered by my insurance because i fall in the advanced maternal age group or someone with a higher risk of having a baby with some genetic defects.

 

[SarahLovesJS]

Hi, I was wondering does anyone know how much these tests costs in general?

I think FI and I should get the CF test because it is in my family and there are actually a bunch of diseases in my family. Sigh.

 

[fisherofmengirly]

Okay, still trying to get a grasp on the AFP as related to the amnio.

Lili I think said the AFP is "standard;" does that mean standard for a particular age range, or just standard? If you don''t want the test, do you have to have it? I also think I remember reading that Tacori said that the AFP is "non-invasive." Is there any possibility of harming your baby by having it done?

 

[lili]

Date: 3/12/2008 8:39:02 PM
Author: fisherofmengirly
Okay, still trying to get a grasp on the AFP as related to the amnio.
Lili I think said the AFP is ''standard;'' does that mean standard for a particular age range, or just standard? If you don''t want the test, do you have to have it? I also think I remember reading that Tacori said that the AFP is ''non-invasive.'' Is there any possibility of harming your baby by having it done?

Fisherofmengirly--
By standard, it applies to all preggo regardless of age or group.
I believe you can opt out of the test if you don''t want it done. It is a screening test.
Like Tacori said, the AFP is noninvasive in that it just requires a lab tech to draw your blood from your arm for analysis.
The amnio is invasive because it involves a needle breaking through the amniotic sac to withdraw a sample of the amniotic fluid.
The CVS (Chorionic villus sampling) is invasive because it gets the sample from where the placenta attaches to your uterus.
So the amnio and CVS carries a small risk of miscarriages.

 

[qtiekiki]

In California, AFP screenings are done by the state health dept genetic disease division. It''s recommended by the state, so insurance usually reimburse you for the cost. Not sure about other states. My dr. basically does AFP screenings for everyone, and does it along with other bloodwork (for STDs and optional HIV test). My AFP results came back negative and I am under 35, so dr. didn''t even mention any of the other test.

 

[lili]

Date: 3/13/2008 1:00:55 AM
Author: qtiekiki
In California, AFP screenings are done by the state health dept genetic disease division. It''s recommended by the state, so insurance usually reimburse you for the cost. Not sure about other states. My dr. basically does AFP screenings for everyone, and does it along with other bloodwork (for STDs and optional HIV test). My AFP results came back negative and I am under 35, so dr. didn''t even mention any of the other test.

That''s right, I forgot that it differs state to state.

 

[Tacori E-ring]

AFP is NOT standard. Many of my friends did not get it. It is optional and was not encouraged OR discouraged by my doctor. He made it clear it was 100% up to us and there was no "right" choice. It is a blood test so no chance of m/c or invasive to the baby. It only tells you if you *might* be high risk. It is possible for it to say you are and have NOTHING wrong with your baby.

 

[Tacori E-ring]

Date: 3/12/2008 8:21:32 PM
Author: SarahLovesJS
Hi, I was wondering does anyone know how much these tests costs in general?

I think FI and I should get the CF test because it is in my family and there are actually a bunch of diseases in my family. Sigh.

If you call your OB they can tell you the cost. If not they can give you the billing code and you can call your insurance and find out.

 

[snlee]

Date: 3/13/2008 10:06:00 PM
Author: Tacori E-ring
AFP is NOT standard. It is optional and was not encouraged OR discouraged by my doctor. He made it clear it was 100% up to us and there was no 'right' choice.

This was my experience too.



Thanks for all of your imput everyone.

 

[SarahLovesJS]

Date: 3/13/2008 10:07:20 PM
Author: Tacori E-ring

Date: 3/12/2008 8:21:32 PM

Author: SarahLovesJS

Hi, I was wondering does anyone know how much these tests costs in general?

I think FI and I should get the CF test because it is in my family and there are actually a bunch of diseases in my family. Sigh.

If you call your OB they can tell you the cost. If not they can give you the billing code and you can call your insurance and find out.

Thanks! Not planning on having kids any time soon, but I definitely want to do the tests in the future.