how did you decide which tests to get?

lil fox · July 2012

So on Friday, I'm supposed to return the little sheet of paper about which voluntary tests I would like. My doc already said that she discourages the amnio, but I'm just not sure about the other ones:

There is counsyl (which does cyctic, fragile x, tay-sachs, sickle cell, etc.)

There is first tri screening (downs)

what did you guys do?

ellephunt · July 2012

We'll start with the initial screening which is ultrasound and bloodwork. If something comes back abnormal then we will talk with our OB and decide where to go from there.

LovinTim912 · July 2012

I didn't even know that we had the option to request certain tests. My doctor just runs whatever is the norm and extras based on family history. I don't remember being asked with my first either.

phdwyfe2013 · July 2012

I've had the genetic counselling done a few years ago when my now DH and I got engaged (I happened to be having a yearly physical at around that time and requested the Ashkenazi panel to rule out tay-sachs and other commons genetic diseases for people of Jewish descent - DH also did the screening so we're good to go on that one).

I'll be doing the 1st tri screening (not amnio, just the screening to see the probability, my doctor also discourages amnio).

Pad7 · July 2012

Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.

IncogNeato · July 2012

Last time and this time I'm going with the NT scan which includes a blood test and ultrasound to check for the trisomies and heart abnormalities. They can also spot other physical issues as one of my friends sadly discovered recently.

I'm the kind of person who needs time to process and deal with things so if, heaven forbid, there were something wrong with my baby that could be picked up at the NT scan, I want to know then, rather than finding out at 22 weeks when my A/S will be.

bdutton0005 · July 2012

We will be having everything ran ( except the amnio unless something comes back that they need to do the further testing). With DS we did not but no since we do have DS we want to be as prepared as possible if something is wrong

IncogNeato · July 2012

Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.

It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.

It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.

If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

bootselven · July 2012

We talked to my doctor. Based on family history, we're at a low risk for anything. She also advised that the tests can give false positives, which can cause unnecessary stress. And she also mentioned that, really, it depends on what you'll do with the information. (If nothing, why bother?)

Pad7 · July 2012

IncogNeato:
Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.
It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.
It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.
If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

If I can hold my baby for an hour, it's worth it to me!! And my sister who lost her baby three days overdue and had to deliver her head child would give anything for one second of seeing Addison alive....regardless of if it was short or she had problems....so save your soapbox for someone else!!!!

DachsieMama123 · July 2012

IncogNeato:
Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.
It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.
It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.
If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

Agree completely. I have a friend who found out at her NT scan that her baby had a form of trisomy that would mean the baby's head would not fully develop. The baby had no chance of survival. So much better that she find that out at 12 weeks than have a shower, decorate a nursery, and get excited about being a new mom. I wouldn't terminate my pregnancy if my baby had Down's, but I wouldn't put myself through nine months of pregnancy for a baby who would only live for a few hours, if at all. It's a personal choice, but I'm so glad it's a choice I'll be able to make on an educated basis. Thanks, modern science!

DachsieMama123 · July 2012

I'm having the NT scan and the Counsyl test for now. I think my insurance covered NT Scan and Counsyl was $99 but I think it also depends on what insurance you have. No CVS or amnio unless there's is evidence something is wrong (and maybe not then either...we'll cross that bridge when we come to it).

marshmallows · July 2012

My ob told me there is a new blood test they can do instead of the amnio which would yield the same results. Depending on the nt scan results I would opt for this. No risk like the amnio. This is new- it wasn't around 2 yrs ago when I was preg with my son. Something to ask about...

jenlb03 · July 2012

Agreed.

superkarynfragilistic · July 2012

We are meeting with a genetic counselor in a little over a week to discuss our options for testing. I know we will be passing on the CF test. Neither my dh or I are carriers so it is a moot point. Right now, I am willing to do any non-invasive scans or blood tests, but I am not willing to do an amnio or cvs testing. Hopefully, there will not be a need to further consider those options.

PJpeppercorn · July 2012

IncogNeato:
Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.
It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.
It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.
If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

Thank you for posting this!

sararn2004 · July 2012

Pad7:
IncogNeato:

Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.

It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.

It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.

If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

If I can hold my baby for an hour, it's worth it to me!! And my sister who lost her baby three days overdue and had to deliver her head child would give anything for one second of seeing Addison alive....regardless of if it was short or she had problems....so save your soapbox for someone else!!!!

I agree. I've known a couple of ppl who had babies with abnormalities incompatible with life. One woman delivered a baby with anacephely, that was her son, a part of the family, she held him for the day and a half he lived. A nurse I work with had his baby die from a known heart defect after 9 days. Those days were precious for them. I'm more inclined to not do that many tests except to know to prepare. I am definitely higher risk too since I am 35 and I received methotrexate(for my previous ectopic pregnancy) less than the recommended 3 months or greater before conception. I really hope for a healthy little one, but whatever God gives us we will trust him.

IncogNeato · July 2012

Pad7:
IncogNeato:
Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.
It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.
It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.
If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

If I can hold my baby for an hour, it's worth it to me!! And my sister who lost her baby three days overdue and had to deliver her head child would give anything for one second of seeing Addison alive....regardless of if it was short or she had problems....so save your soapbox for someone else!!!!

Um, I didn't say anything about NOT seeing your baby. I said I would want to know early so I could prepare myself. No one should feel guilty about wanting more information. That's my point.

tdmd09 · July 2012

We are doing anything that's non-invasive, so ultrasound and blood work. If something comes back, we'll cross that bridge when we get there, but I would like to avoid an amnio due to the increased risk of miscarriage. I considered not doing the screening at all, but my last missed miscarriage turned out to be due to Down Syndrome (only 30% of babies with Down Syndrome are born alive -- the rest are miscarriages or stillbirths) so now we're at an increased risk of another chromosome abnormality, and we would like to know if we need to prepare for another loss or a child with special needs.

Not to scare anybody, but a lot of people think Down Syndrome is no big deal, but some of the associated conditions can be fatal, like ours was.

ericalee27 · July 2012

ellephunt:
We'll start with the initial screening which is ultrasound and bloodwork. If something comes back abnormal then we will talk with our OB and decide where to go from there.

ditto

NG2HD · July 2012

I would ask your OB what they recommend. Your insurance may not cover the voluntary testing - mine didn't and I ended up with a HUGE bill for them with DD. And on the genetic testing - my OB told me there is a high rate of false positives, which happened to me. I came back with such a "low" result, that I was told I was high risk for Downs and then had to go through a lot of additional monitoring and appointments because of that (I refused the amnio). I didn't mind the additional 3-D ultrasounds, etc., but it sure scares you.

LittleMoxie · July 2012

Pad7:
IncogNeato:
Pad7:
Every dr should be talking about the different diagnosis screenings. I would only do a screening if they would have someway to correct or change with pre-birth procedures. Like for me downs...don't get the test, doean't matter to me. Thy can't treat it and we will live our baby either way. So the test is just unnecessary. But that is my choice. You each should be given the same choice.
It doesn't just test for downs. It tests for Trisomy 18 and 13 which are almost always fatal and may mean that the baby may not even survive until birth. It's not always as simple as "loving your baby either way" when you find out that your baby likely won't survive past a few days and almost definitely won't survive the first year. Sorry to be snappy, but it's a pet peeve of mine when people act like the NT scan is just to find out if your baby will have downs and "it doesn't matter" because you'll love them no matter what. That's an oversimplification and I think it makes people feel like they should feel guilty for wanting more information about their child.
It also can catch major deformities that could mean a need for surgery or delivery in a special hospital, which are also things that many parents would want to know early so that they can plan accordingly. A good friend of mine right now is going through the stress of realizing that her baby will need many surgeries after birth. She learned this at an early ultrasound like the NT scan. It would have been even harder for her (I believe) to have been blindsided at 20 weeks with this.
If my baby weren't going to survive to come home from the hospital or would need intense medical intervention after birth, I would want to know that as early as possible, and that doesn't mean I'd love my child any less.

Off soapbox.

If I can hold my baby for an hour, it's worth it to me!! And my sister who lost her baby three days overdue and had to deliver her head child would give anything for one second of seeing Addison alive....regardless of if it was short or she had problems....so save your soapbox for someone else!!!!

What if your baby is suffering in the womb for months, don't you think it would be selfish to make the baby suffer for months so you could hold it for a few minutes?

Shaungela · July 2012

Im doing whatever my Drs want me to do.

Shaungela · July 2012

marshmallows:
My ob told me there is a new blood test they can do instead of the amnio which would yield the same results. Depending on the nt scan results I would opt for this. No risk like the amnio. This is new- it wasn't around 2 yrs ago when I was preg with my son. Something to ask about...

A friend of mine had this done, i cant remember what its called though..

Synth · July 2012

Shaungela:
Im doing whatever my Drs want me to do.

This.

eatdrinkstretch · July 2012

I will be having the NT scan, and then any subsequent tests that the doctor recommends based on those results. My husband has a family history of DS (his uncle only lived a few very painful months), so my doctor recommended that we do the NT scan in order to have as much information as possible.

I have never seen this said on TB, so I may just be asking to get flamed by being honest, but we would terminate under certain circumstances. It's a highly personal and controversial decision - please know that it is not one that we would ever make lightly.

bdutton0005 · July 2012

eatdrinkstretch:

I will be having the NT scan, and then any subsequent tests that the doctor recommends based on those results. My husband has a family history of DS (his uncle only lived a few very painful months), so my doctor recommended that we do the NT scan in order to have as much information as possible.

I have never seen this said on TB, so I may just be asking to get flamed by being honest, but we would terminate under certain circumstances. It's a highly personal and controversial decision - please know that it is not one that we would ever make lightly.

I applaude you for saying this! No flames here with having a DS already for us I think it is something we would have to consider under certain circumstances also.

krissywave · July 2012

I dont know if you know this but some of the blood test are based on family history. Ex tay sachs is common in the jewish line, where sickle cell is common in the african american line. I would talk to your Dr about things like that.

bumpuser5925118 · July 2012

My dr basically said that the early tests were to help decide if you would want to do anything drastic if they came back positive. I said that the only reason I would want them would be to get the drs set up for after the baby is there, to help me be more prepared. He then said that everything that is tested for early on can be picked up during the A/S. I decided that would give me enough time to get every set up if need be, and it would save me some weeks from worrying, which would be better for the baby.

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