Genetic pre-screening....thoughts?

pmjb · June 2016

Hi all, I just came from my first prenatal checkup and the Dr explained genetic pre-screening and told me to think about it. I'm currently 7 weeks and go for my first ultrasound this Friday. I should mention I am located in Canada so the testing procedure may be a bit different.

I'd like to hear people thoughts on this. Are you doing it or passing??

kerris713 · June 2016

We did it with our first and found out I was a carrier of cystic fibrosis although no one in my family has had it. My husband got screened and luckily he is not. However, now all my siblings will need to be screened to check if they're a carrier as well.

Babymakes5! · June 2016

Is this the NT and associated bloodwork? If so I did it both times and plan to again.

genidee · June 2016

Hello! I'm a genetic counselor in the U.S. and work with the various prenatal genetic testing options all the time. While the type of test matters in terms of detection rate and accuracy, what really matters is knowing what you think you might use the information for, e.g. planning purposes, possible termination, not to be surprised later in the pregnancy or at delivery, general preparedness, etc. Knowing the type of test and knowing how you want to use the information can help you decide if you want to do it. I would also recommend finding a prenatal genetic counselor to help walk you through all of this, too, if possible.

cinderin · June 2016

I will do this. I am AMA (over age 35 at birth). I am hoping to do the one where they take my blood and get the baby's genetic info and can tell us the results around 11/12 weeks.

kswiger06 · June 2016

I'm on my 3rd and have always skipped the tests. I plan on skipping this time as well. I agree with what @genidee was saying about being prepared in case there are problems, and figuring out why you want to know the information but I have always felt that I will love the baby no matter what and feel that if that's what I'm dealt then I'm ok with it.

angeltennis3 · June 2016

My plan is to first call my insurance and see what the coverage is on genetic testing.

I didn't with my first because I was worried any abnormalities would interfere with my connection to the baby I was growing. I wanted more time to bond.

this time around I am open so I have more time to research and prepare, given I have significantly less free time in my hands with a toddler to chase.

Xstatic3333 · June 2016

I won't be doing it since I'm only 31 and it won't be covered by my insurance. If it was covered, however, I think I would. H and I have already discussed the tough decisions about what we would do if we knew we would have a profoundly disabled child; even without genetic testing, some conditions could become apparent at the AS. I won't get into that here, it's personal and a decision that can only be made by each parent or couple, but I am a researcher and if I was going to be a bringing home a child with major challenges, I would want to get all of the information, get plugged into supportive communities, etc.

BumpasaurusRex · June 2016

This is a tricky topic to talk about.

I did it with DS and will do it with this pregnancy. It's more about being prepared for anything and arming myself with as much knowledge as I can.

Being 100% transparent, I can sit here and say that it doesn't matter what the results show and that I'd love my baby no matter what. Well, saying that bothers me. Because 1) it would imply that if I did choose to terminate the pregnancy, that I didn't love my child and 2) I can't say how I would react to such emotional and mental news like that without having gone through it.

The people that have gone through it? The hopeful mothers and fathers who are sitting in a doctor's office receiving some of the most devastating news of their lives? I would never dream of putting myself in their shoes and to have to discuss how they will choose to proceed. And not just in that moment, but for the rest of their lives and the potential judgment they may receive.

It's a personal decision.

silvercamaro77 · June 2016

This is completely off-topic, but @BumpasaurusRex, have mercy on our sushi banned souls and change your siggy pic!

I'm dying every time I see it!

BumpasaurusRex · June 2016

silvercamaro77 said:

This is completely off-topic, but @BumpasaurusRex, have mercy on our sushi banned souls and change your siggy pic! I'm dying every time I see it!

I'll be changing it soon!

hispenguin · June 2016

Are you talking about the Harmony blood test here in Canada? I am 37, so I'm sure that my RE will recommend it, but it is quite expensive and not covered by my insurance company.

edit: I will be getting the IPS screening done. I had it done with DD and will have it done again. For me I would like to be prepared. I know if there are any soft markers during the IPS screening or anatomy scan OHIP in Ontario will cover the cost of the Harmony test.

blush64 · June 2016

Possible Trigger-mentions serious issues in pregnancy and loss

I always have all prenatal testing available. For me it is a matter of wanting to be as prepared as possible. Depending on the issue you may need specialists in the delivery room or even to deliver at a different hospital. I have known more than a few women who have had serious issues while under 27 and having no family history of anything. They were all low risk. It might be having a personal connection to quite a few women who have faced issues that I think it is important to have prenatal testing.

A couple of women off the top of my mind were between the ages of 22 and 26 and both found serious issues due to prenatal testing. One baby would be dead if they hadn't bad the tests because they needed to be at a different hospital and the baby needed treatment right away. One baby was not going to make it to birth and the parents were able to go through labour and spend time with their little girl before she passed.

I do find it a bit annoying when people say I don't have testing because I will love my baby no matter what and I would never terminate. While pregnant with my daughter and after having an amino my cousin said that to me almost exactly. (After hearing of what I just went through she said she could never risk an amino because she loves her baby too much, she never has any sort of testing because it wouldn't change their love. I said I have testing because I lI've my baby too much not to. (The harmony testing was offered 3 weeks after I had the amnio-wish I would have known) edit

I had more to add but I will do it later, my daughter calls..

catiecatp · June 2016

I'm going to do the combined blood screening with the nuchal translucency while I'm in Canada - my doctor didn't mention any other screening that is an option. For us it is about being informed and being able to plan. I don't think that I'd go for a CVS or amnio at my age though.

blush64 · June 2016

@catiecatp I am in Canada too. Your doctor is probably recommending whatever he feels necessary. I had IPS which included NT, also blood tests and follow up blood tests.

Edit

kswiger06 · June 2016

To add from what I previously said, I do think it's a completely personal decision and I don't feel that it is wrong to go either way. Having read some examples of people who did have testing that ended up being helpful it makes me see things I've never been exposed to. I still do not feel that I personally want the testing but so far have had good pregnancies and healthy babies. If I had had different experiences in the past or known people who had experienced something different than me, then I could easily change my mind. I hope my previous post didn't imply that people who get testing may not love a baby born with abnormalities. I'm sure every person here, is here because they are excited and already unconditionally love their unborn baby.

kerris713 · June 2016

We also did Panorama with our DD and plan on doing it again. I feel like it's a personal decision and we would rather have all the information beforehand than in the birth room. We had a very open discussion regarding CF while we were waiting for H results to come back and I think it's important for couples to be on the page if a decision like that has to be made.

blush64 · June 2016

@kswiger06 I know I wrote way a book up there but my feelings/opinions are mostly from what I have heard in real life, especially from certain family members. As well, previous threads from a few years back. I agree, our experiences and history help in this decision.

BumpasaurusRex · June 2016

@kswiger06 I don't know you imply that, it's all good.

This topic came up on a few BMBs in the past and it had an underlying tone.

momousekee · June 2016

It looks like my insurance covers MaterniT Genome, so that's what we're planning to get.

That's in part because my husband did his grad work focused on biomedical entrepreneurship, so he's fascinated by the changes in testing and wants to see how it works out commercially

SPurp13 · June 2016

cinderin said:

I will do this. I am AMA (over age 35 at birth). I am hoping to do the one where they take my blood and get the baby's genetic info and can tell us the results around 11/12 weeks.

This is what I'm doing at 11 weeks.

silvercamaro77 · June 2016

I'm planning to do the blood draw that will provide the baby's genetic makeup. My doctor said insurance typically covers it if there's a genetic disorder in your family (I think she said it extends out to 1st cousins) otherwise you pay out of pocket.

I also had it done with my son because they saw something in the ultrasound that made them think he may have had a genetic disorder, but insurance didn't cover it at all for us then so we paid out of pocket.

genidee · June 2016

Just to clarify, some of these tests include carrier screening for mom of several hundred genetic conditions and some just look at baby's genetic information, no carrier testing. As for ones that look at the baby's genetic information, there is the chance that the result comes back as "inconclusive," which does not mean anything good or bad. Also, if we're talking just normal first or second trimester screening, a positive result is not all that concerning. If we're talking one of the "noninvasive prenatal tests" or NIPT (the genetic info ones), a positive result is very concerning - not diagnostic. None of these screening tests are diagnostic, you'd need an amniocentesis or wait to test after delivery to diagnose. BUT, the likelihood of a NIPT positive being a true positive is much higher than the other screenings that have been around for decades.

turtlemobile2 · June 2016

I will be doing it, but it is recommended since I'm 35. I also had it done for my first because I was considered high risk and they recommend it for those patients as well.

pmjb · June 2016

Thanks so much everyone for your honest opiniions. DH and I discussed it at length last night and decided that for us it is a must. I'm the type who likes to be as prepared as possible and likes doing her research so if something came back positive then we could arm ourselves with all the info prior to our little one's arrival. We will start with the simple blood test and if anything comes back as positive then we will pay out of pocket for the Panorama NIPT, which is about $800.

mamajama3 · July 2016

SPurp13 said:

cinderin said:

I will do this. I am AMA (over age 35 at birth). I am hoping to do the one where they take my blood and get the baby's genetic info and can tell us the results around 11/12 weeks.

This is what I'm doing at 11 weeks.

Me three- I'll be 35 at birth so I'm taking the Harmony test through my doctor. Is this the same test you ladies are taking?

cantalopes24 · July 2016

We will do any non invasive testing our insurance covers that the doctor recommends. My daughter was born with several health issues that testing wouldn't have caught but the financial and emotional toll it took was nothing I could have imagined before she was born. We were absolutely blindsided. The amount of doctors appointments and waiting to get appointments was overwhelming. I just scheduled her next appointment with her geneticist this week and the next available current patient appointment is in February. As an infant she sometimes had 7 doctors appointments a week and sometimes those appointments ended in PEDs visits. It was to the point that my dad was having to take her sometimes because my husband and I had to go to work at some point. We did and spent money on almost nothing except taking care of her for almost 18 months. I was fortunate to have a part time job already because it would have been impossible for me to work full-time.

I have no plans to terminate but if there is something I can make plans for I can't imagine a reason why I wouldn't.

MedicMomma84 · July 2016

I'm going to have some form of genetic testing done at the same time as my NT test on August 2nd. I want to be armed with as much knowledge as possible, as this will be our first child. We are also trying to get pre-authorization on the "cell-free DNA" testing or "Maternity 21" testing. This will not only detect any chromosomal abnormalities with 95% accuracy, but we may be able to determine the gender early as well!

skiingstark · July 2016

We will be doing a noninvasive prenatal test. My doctor uses two different companies. I called my insurance to find out what one they would cover and after half an hour of them trying to figure out, they said to tell my doctor office call them. Bah... I am 31 so they might not cover it... I hate medical insurance in USA. I want to be prepare for anything and everything I can be. Also the other cool feature I like about it, it finds out the baby's sex

We will pay for it even if insurance does not cover it, but I hope insurance cover at least some of it, since we pay them soo much money.

MommaBean · July 2016

We didn't do any with DS - husband was opposed, we were both young, I wasn't keen on the associated risks (amino and CVS) - but these noninvasive ones didn't exist/weren't offered 8 years ago! DH still doesn't want testing, but I'm like, "just a blood draw + I get an u/s? Heck yeah!"

Vastra · July 2016

I just had my draw on Friday, and will get results on Tuesday. I think the doctor freaked DH out a bit (it was his first appointment, and he hasn't been reading everything ever, like I have) but I'm not worried. I'm 38, but so far everything has been completely normal and we don't have any genetic issues in the family. I come from a long line of AMA mamas and nobody has ever had a problem.

blush64 · July 2016

@Vastra I hope you get the results as soon as possible and that everything is great!

Vastra · July 2016

blush64 said:

@Vastra I hope you get the results as soon as possible and that everything is great!

Thanks darling!

PerraSucia · July 2016

@Vastra that's like the fastest I've ever heard of people getting their results back!

Vastra · July 2016

PerraSucia said:

@Vastra that's like the fastest I've ever heard of people getting their results back!

Oops, Tuesday the 12th, my bad! (I'm on vacation until then and all other life is on hold

)

lma1846 · July 2016

I am completely uneducated about this.. first time pregnant and my first appointment with my midwife isn't until July 18th.
A friend of mine said even if you get a positive test its still a very small percent chance that there will be an abnormalities.. is this true?

skiingstark · July 2016

lma1846 said:

I am completely uneducated about this.. first time pregnant and my first appointment with my midwife isn't until July 18th.
A friend of mine said even if you get a positive test its still a very small percent chance that there will be an abnormalities.. is this true?

When I talked to my doctor about this, she said if you get a positive it does not mean the baby will automatically have it, it is just predisposed to it, but it all depends on what it is, sometime it just means the baby is a carrier. But she says depending on what it is they can do follow up tests. It lets them know what to take a look at closer. I hope that helps

bdesterhouse · July 2016

we won't get the testing done. We didn't with either of our children. It would be fun to know the sex early, but
the costs of the test aren't worth it where we live when we'd love this baby no matter what the test says.

blush64 · July 2016

bdesterhouse said:

we won't get the testing done. We didn't with either of our children. It would be fun to know the sex early, but
the costs of the test aren't worth it where we live when we'd love this baby no matter what the test says.

I think prenatal testing is completely your decision but FYI the tests have absolutely nothing to do with loving your baby. It is about being prepared and possibly changing birth plans so you can be in a hospital that is capable of safely delivering your baby. Low risk isn't no risk. (As I have seen with more than a few young, healthy women woth no family history of anything)

I have the prenatal testing because I love my baby no matter what.

bdesterhouse · July 2016

blush64 said:

bdesterhouse said:

we won't get the testing done. We didn't with either of our children. It would be fun to know the sex early, but
the costs of the test aren't worth it where we live when we'd love this baby no matter what the test says.

I think prenatal testing is completely your decision but FYI the tests have absolutely nothing to do with loving your baby. It is about being prepared and possibly changing birth plans so you can be in a hospital that is capable of safely delivering your baby. Low risk isn't no risk. (As I have seen with more than a few young, healthy women woth no family history of anything)

I have the prenatal testing because I love my baby no matter what.

I already know that. Thank you though. That's why I'm already prepared by delivering in the number one hospital that is prepared for all types of births. I'm already aware that I will be having a c section and will be seeing a high risk doc for all my appts after 20 weeks. The tests won't prepare me for anything other than giving me something else to worry about on top of everything else I will be worried about after 32 weeks since that's when we lost our daughter. Yeah the testing could help us know something vital but the testing could also be wrong. It's not 100% right. My friend was told to abort her son based on that testing and he's now a great 3 year old. We all have our own beliefs and mine won't change.

PerraSucia · July 2016

Vastra said:

PerraSucia said:

@Vastra that's like the fastest I've ever heard of people getting their results back!

Oops, Tuesday the 12th, my bad! (I'm on vacation until then and all other life is on hold )

Good luck! Geriatric moms unite.

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