genetic testing???

[vkj73]

i'm 36 years old, 7 weeks pg with our first.

so, dr. informed me yesterday of three different tests there are (here in u.s.) for genetic testing/chromosomal abnormalities:
1. detailed ultrasound 2. amniocentesis 3. cvs

i feel totally overwhelmed and not sure which way to go. my first ultrasound is this monday (i was hoping it would happen at my first doctor's appointment yesterday), so as of today, i don't even know what the initial status of the bean is.

this is all combined with a day of talking to my insurance/medical group for 2-3 hours trying to figure things out. that all worked out, so i feel relieved about that.

invasive testing freaks me out a bit (didn't sleep so well last night), but it does give 100% results, ultrasound gives 90% (according to dr.).

i know many women leave it up to their higher power and don't test at all. i know it's a totally personal decision, but i thought i'd see what other women think.

thanks

 

[NathansMommy]

It is definately a personal decision. Here is Canada it is covered as long as you have the referals. I am only 24 but I have already requested a CVS to be done at the end of this month... I am scared but I have had it done before. For me, I was pregnant when I was 19 and had my first when I was 20. My ultrasounds were all normal and when I had the baby he had trisomy 13 mosiacism, which is extremely rare. He had facial abnormalties and organ abnormalities. He went to the sick kids hospital in my area.. 6hrs away. We watched him go through surgury and go back home only to find out that it was fatal. He passed away at 3 wks from this chromosome abnormality.
My second pregnancy should have been fine because the genetics dept told us less then 1% chance of happening again.. ie. our age and set forth. I went for a detailed early scan with my second. He ended up being a 1 in 4 for downs syndrome and they asked us if we wanted to continue.It was hard because I was pregnant with this one 1 1/2 mths after lossing our first. The OH said to do the CVS and it was done. Unfortunately it was inconclusive. They wanted us to do an amnio.. and it hurt but we did it. Everything came back fine and we have our little miracle.

To me it was worth it because I had to lose my little baby and hold onto him as he past away and I dont think that i could ever do that again for sanity reasons and being soo young and the opportunity to have more healthy children. Some ppl don't think that the risk of mc outways the chance of it happening to them. The risk is min. especially if you a good dr. To me, it was worth it and I will do it again!

Sorry to rant soo much about my experience.. But it is definately a person choice.

Good luck with your decision!

 

[vkj73]

thank you nathansmommy. i appreciate you taking the time to write.
all info is helpful

here's to healthy and happy 9 months

 

[babers]

I personally wouldn't do it. What happens when they say it possibly could have down syndrome. Are you going to say I don't want to continue. I want a normal baby with no abnormalities. I think you get what god gives you and you love that child because he/she is yours and a gift. I also wouldn't do it because I know that those tests aren't that reliable. I had a friend whose sister was pregnant with her 3rd child and they told her she was a down syndrome baby. They already had 2 boys and this was a little girl. They were devistated, but kept her. She was completely healthy and had no down syndrome. Another friend had a doctor tell her about the same, except it was a different defect and they condsidered aborting. They went and got a second opinion and again the baby was completely healthy. So I guess if you are totally against welcoming a challenged baby into your life, then you should do the test, but know they are not always accurate.

 

[NathansMommy]

Genetic chromosome testing is accurate. It is accurate because they count and map your unborn babies chromosomes. Which needs to be done via CVS or Amniocentesis. Just wanted to keep the record straight with valid information.

 

[vkj73]

i realize that maybe my original post was unintentionally a bit charged. i realize it's tip-toeing on the political/religious line. my intention really was to see what other women's experiences with the testing has been; purely for informational purposes.

 

[Beltane]

I opted not to have this testing done last time even though it was covered by my insurance. I just didn't want more anxiety than neccesary in my life. During my 20 week scan though, they found a spot on my babys heart which is a soft marker for downs. I finally agreed to get the triple screen done and it turns out it was nothing more than a calcium deposit. He was born 100% perfect. I'm sure you will know what to do when the time is right. As far as I know, invasive testing is only done here if there is a suspected abnormality.

 

[Junebug_CJ]

Genetic chromosome testing is accurate. It is accurate because they count and map your unborn babies chromosomes. Which needs to be done via CVS or Amniocentesis. Just wanted to keep the record straight with valid information.

Yes, this is correct.

I'm a medical geneticist, this is what I do for a living.

The answer is very personal, and depends on what a person/couple is willing to accept. Some don't want any testing at all because termination is against their religion or morals. Some don't want to give birth to a child with chromosomal problems because the health issues would be a burden to the child. Some just want to know to be ready, without the intention of pregnancy termination. All of these are acceptable answers. There is NO RIGHT ANSWER, only what you as a couple are comfortable with.

Personally, I am having CVS. I'm also 36 years old. I am a doctor to children and adults with chromosomal problems and would not want to put a child through that: that is our personal opinion and we made the decision to not continue an affected pregnancy. Everyone has the right to make the decision that feels right for them. My early scan showed an umbilical cord cyst, which is associated with a 1/10 chance of chromosomal problems, significantly higher than my 1/188 age-related risk... So definitely doing invasive testing at this point.

In my experience, ultrasound picks up only the cases of chromosomal abnormalities associated with major organ malformation. 50% of Down's babies will have heart defects, which most likely will be picked up, but a significant proportion of them will be missed. There are 1st and second trimester screening tests, which allow a readjustment of your age related risk. At 36, your risk of a chromosomal abnormality is 1/188, which is really small when you think of it. The screening tests (nuchal translucency and blood tests) will readjust the risk, either increasing it or decreasing it. Depending on the outcome, you could then decide to pursue invasive testing if the risk is increased. Have these been offered to you? If not, definitely worth asking your doctor about!!!

Hope this helps, PM me if you want to chat more...

CJ

 

[Junebug_CJ]

I personally wouldn't do it. What happens when they say it possibly could have down syndrome. Are you going to say I don't want to continue. I want a normal baby with no abnormalities. I think you get what god gives you and you love that child because he/she is yours and a gift. I also wouldn't do it because I know that those tests aren't that reliable. I had a friend whose sister was pregnant with her 3rd child and they told her she was a down syndrome baby. They already had 2 boys and this was a little girl. They were devistated, but kept her. She was completely healthy and had no down syndrome. Another friend had a doctor tell her about the same, except it was a different defect and they condsidered aborting. They went and got a second opinion and again the baby was completely healthy. So I guess if you are totally against welcoming a challenged baby into your life, then you should do the test, but know they are not always accurate.

These were screening tests, not genetic tests. Screening tests give you a risk of 1/* (where the * depends on nuchal translucency and blood tests), whereas genetic testing that is 100% sensitive and is NOT associated with false positives or negatives.
CJ

 

[vkj73]

junebug_cj and beltane....thank you so much for your responses.

my sister (who is a midwife/nurse practitioner) will be in town this weekend with her husband (medical dr.) so i think i'm going to 1) let them know i'm pg 2) have a serious talk about testing.

i wasn't thrilled with how my dr. presented the info. it was something to the affect of: i'm referring you to a parinatal group, these are the three tests (she gave stats, info, etc), and said for us to go home and talk about it, then make our decision. it was all a bit mechanical

anyway, i'm going to be switching dr.s and am really exciting about the women's center at the hospital here.

i guess it's one day at a time. i haven't even had my regular ultrasound yet to make sure the bean is there and growing.

again, thanks girls!!! &

 

[Junebug_CJ]

Good luck to you! It is definitely important to be informed, and comfortable with your decision!
CJ

 

[WannaB]

Genetic chromosome testing is accurate. It is accurate because they count and map your unborn babies chromosomes. Which needs to be done via CVS or Amniocentesis. Just wanted to keep the record straight with valid information.

Yes, this is correct.

I'm a medical geneticist, this is what I do for a living.

The answer is very personal, and depends on what a person/couple is willing to accept. Some don't want any testing at all because termination is against their religion or morals. Some don't want to give birth to a child with chromosomal problems because the health issues would be a burden to the child. Some just want to know to be ready, without the intention of pregnancy termination. All of these are acceptable answers. There is NO RIGHT ANSWER, only what you as a couple are comfortable with.

Personally, I am having CVS. I'm also 36 years old. I am a doctor to children and adults with chromosomal problems and would not want to put a child through that: that is our personal opinion and we made the decision to not continue an affected pregnancy. Everyone has the right to make the decision that feels right for them. My early scan showed an umbilical cord cyst, which is associated with a 1/10 chance of chromosomal problems, significantly higher than my 1/188 age-related risk... So definitely doing invasive testing at this point.

In my experience, ultrasound picks up only the cases of chromosomal abnormalities associated with major organ malformation. 50% of Down's babies will have heart defects, which most likely will be picked up, but a significant proportion of them will be missed. There are 1st and second trimester screening tests, which allow a readjustment of your age related risk. At 36, your risk of a chromosomal abnormality is 1/188, which is really small when you think of it. The screening tests (nuchal translucency and blood tests) will readjust the risk, either increasing it or decreasing it. Depending on the outcome, you could then decide to pursue invasive testing if the risk is increased. Have these been offered to you? If not, definitely worth asking your doctor about!!!

Hope this helps, PM me if you want to chat more...

CJ

Thankyou so much for taking the time to reply with this information! When I eventually conceive I will be taking the 100% route when it comes to genetic testing, being 41 I know the risks are getting greater, its nice to know that I can have that piece of mind.

 

[Ilasha]

Original Gene help to understand genetic potential. Once you understand your genetic potential you can manage your health and your potentials. Such test help you to understand future health problems and you can avoid them with proper exercise and nutrition.

 

[Ilasha]

Original Gene help to understand genetic potential. Once you understand your genetic potential you can manage your health and your potentials. Such test help you to understand future health problems and you can avoid them with proper exercise and nutrition.

Hopefully this will help to fight against all health problem