Prenatal genetic testing: what did/will you choose and why?

wtfisup · November 2013

At our appointment this morning, they asked if we wanted genetic testing. I said "no" based on what I know of the choice, the likelihood of getting an erroneous result that causes stress and worry and a second test to prove it wrong, etc. But then my husband was kind of freaked out, like, "Don't we want that?"

My thinking was that we're really low-risk, why bother, plus I don't want the stress.

He said something like, "But we're not that low-risk, because of your uncle's Down's Syndrome." So background on that: my grandmother had my uncle at a really advanced age -- she was around 50. She also took two forms of narcotics while pregnant. He has autism and DS. Her other five children were five. We have no family history. I don't consider my uncle to be an indicator for a higher risk for me; the scenario for his birth was overall high-risk.

And this all gets pretty touchy, of course. I told my husband, "By all means, we'll probably have a healthy baby. But if we have a child with special needs of any sort, that's just kind of the gamble of having a baby." But I don't know if that helped.

So part of me thought, "Maybe I should call them back and get the testing for his peace of mind." But then I thought, what about my peace of mind?

Others?

wtfisup · November 2013

Should say her other five children were FINE, we have no other family history.

Jbosarge85 · November 2013

Down Syndrome is not hereditary it's a genetic condition. My niece has down syndrome and my midwife was never worried about it. I also didn't get testing, because the blood testing they do (forgot what it's called) has like you said has a high false positive percentage and if it comes back positive for anything they want to do an amniocentesis. Those are intrusive (I don't think that's the word I want but can't think of it), there is a risk of miscarriage with it, albeit it's a small risk, but it is a risk none the less. We also didn't want to do it because we are against abortion so we knew we wouldn't abort (90% of pregnancies that show positive for down syndrome are aborted), we also didn't think we needed the stress or worry, we were confident that regardless we would love our baby and take things one day at a time.

Jbosarge85 · November 2013

I hope my response doesn't come across as if I'm putting down those who have had the test, that's not my intention, I'm just stating my reasoning for not doing it. Oh I should add my baby is now 10 months old and in great health, hoping to be pregnant with our second and won't test with this one either.

whimsy515 · November 2013

We chose not to do any testing. The only thing considered "abnormal" in my family is dwarfism, and that's something we can definitely handle. My thinking is that even if they found something abnormal, I'm too damn stubborn to go down the abortion route. We tried for well over a year. I'm not willingly giving that up! BUT I totally understand why people would want to. It just isn't for us...

wtfisup · November 2013

Hmm. Very helpful insights.

Jbosarge85 · November 2013

No it screens your blood for certain factors and if it comes up abnormal they want to perform an amniocentesis, the rate that it comes back abnormal when your baby is fine is as high as 80%. I read about it before it was offered and when the midwife offered it she also informed me that the possibility of getting a (as she put it) false positive was very high. OP no matter if you get the testing or not you want to make sure that the hospital you deliver at is equip with a good NICU because anything can happen and you want to make sure they are able to take care of your baby. Even when those test come back normal your baby may be born early or with a heart problem (not trying to scare you, I just think it's smart and common sense to be prepared for the worst.

EmR22 · November 2013

I did testing due to advance maternal age but not to see if I would abort but to be knowledgeable. If I could find out ahead of time about possible problems why wouldn't I? That way I can mentally and physically prepare for it. Like people said there is such a assumption that you only test so you can abort your baby. That is not true. If I had tested positive for DS I would not have aborted but I would have educated myself on the challenges that lie ahead of me with both the mental care and possible extra medical care.

You have to remember too that it tests for more than DS (although that's all people seem to think of). Some of these abnormalities are fatal to baby and could be to mom if left too long.

If your testing is covered or you can afford it I say do it. Knowledge is power.

FemShep · November 2013

wtfisup said:

At our appointment this morning, they asked if we wanted genetic testing. I said "no" based on what I know of the choice, the likelihood of getting an erroneous result that causes stress and worry and a second test to prove it wrong, etc. But then my husband was kind of freaked out, like, "Don't we want that?"

My thinking was that we're really low-risk, why bother, plus I don't want the stress.

He said something like, "But we're not that low-risk, because of your uncle's Down's Syndrome." So background on that: my grandmother had my uncle at a really advanced age -- she was around 50. She also took two forms of narcotics while pregnant. He has autism and DS. Her other five children were five. We have no family history. I don't consider my uncle to be an indicator for a higher risk for me; the scenario for his birth was overall high-risk.

And this all gets pretty touchy, of course. I told my husband, "By all means, we'll probably have a healthy baby. But if we have a child with special needs of any sort, that's just kind of the gamble of having a baby." But I don't know if that helped.

So part of me thought, "Maybe I should call them back and get the testing for his peace of mind." But then I thought, what about my peace of mind?

Others?

I think you may be confusing your tests.

Genetic testing checks for a carrier status for inherited conditions like cystic fibrosis. This test is a blood test and gives you a definite result. Generally, one parent has the test, and if they test positive as a carrier for a dominant or recessive disease, the other parent then has the test. People of certain heritage (like Ashkenazi Jewish descent, for example) are at greater risk for certain inherited genetic diseases.

The quad screen and NT scan are qualitative tests that look for certain markers of chromosomal abnormalities and then give you odds of having a baby with a chromosomal abnormality. Your test results aren't necessarily positive or negative; you get odds like 1 in 500 or 1 in 1000. Essentially, out of every woman with measurements exactly like yours, 1 in X has a baby with a chromosomal abnormality.

There are more definitive tests if a woman is in a high risk group or if her screen results are worrying. The CVS and amnio tests take material from the uterus(chorionic villae or amniotic fluid) and test if for chromosomal abnormalities; there is a small risk of complications or miscarriage with these tests. Non-invasive prenatal testing takes fragments of fetal DNA from the mother's blood, sequences them, and diagnoses chromosomal abnormalities.

The tests that you opt in to are personal decisions; however, at a minimum, I'd recommend carrier screening and the quad screen. There is no risk of harm to your baby, and your doctor can diagnose some potentially life-threatening issues with these tests. In some cases, the information can help line up special treatment to be available for the baby at birth. Also, keep in mind that age alone is not the only cause of chromosomal abnormalities; 70% of children with DS are born to women under 35.

yvanehtnioj · November 2013

I chose an NT scan, mainly to get an extra u/s. I have no expectations of anything being off. But hey if they are, then we'll know.

wtfisup · November 2013

FemShep said:

I think you may be confusing your tests.

That's very, very possible. While I feel like I've read a metric ton on pregnancy, this wasn't something I put as much into.

Okay, the test that our midwives do is a blood test + NT scan. I think it's worthwhile if the insurance covers it.

spinsoffresonance · November 2013

I had genetic testing done on myself before conceiving to make sure I wasn't a carrier for anything. Then when I was pregnant with DD I had the NT screening and quad screening. I will have those again with this pregnancy. I'm not at high risk of anything but if there was something wrong with the baby I would want to know as soon as possible. Also I don't qualify for fetal DNA testing since I'm under 35 and no family history of genetic diseases but if I could do it I would. OP what was the genetic testing your Ob was referring to? The NT and quad screening are just that, screening tests, they give you an odds ratio and depending on the result you can chose to get further diagnostic testing. The new fetal DNA tests , however, are over 99% accurate at diagnosing trisomies and are completely non invasive to the baby. You should make sure you know all your options before making a final decision.

wtfisup · November 2013

lica001 said:

I had genetic testing done on myself before conceiving to make sure I wasn't a carrier for anything. Then when I was pregnant with DD I had the NT screening and quad screening. I will have those again with this pregnancy. I'm not at high risk of anything but if there was something wrong with the baby I would want to know as soon as possible. Also I don't qualify for fetal DNA testing since I'm under 35 and no family history of genetic diseases but if I could do it I would. OP what was the genetic testing your Ob was referring to? The NT and quad screening are just that, screening tests, they give you an odds ratio and depending on the result you can chose to get further diagnostic testing. The new fetal DNA tests , however, are over 99% accurate at diagnosing trisomies and are completely non invasive to the baby. You should make sure you know all your options before making a final decision.

In the booklet I brought home, it's something called the ultra-screening: a blood tests plus an ultrasound between weeks 11-14.

spinsoffresonance · November 2013

wtfisup said:

lica001 said:

I had genetic testing done on myself before conceiving to make sure I wasn't a carrier for anything. Then when I was pregnant with DD I had the NT screening and quad screening. I will have those again with this pregnancy. I'm not at high risk of anything but if there was something wrong with the baby I would want to know as soon as possible. Also I don't qualify for fetal DNA testing since I'm under 35 and no family history of genetic diseases but if I could do it I would. OP what was the genetic testing your Ob was referring to? The NT and quad screening are just that, screening tests, they give you an odds ratio and depending on the result you can chose to get further diagnostic testing. The new fetal DNA tests , however, are over 99% accurate at diagnosing trisomies and are completely non invasive to the baby. You should make sure you know all your options before making a final decision.

In the booklet I brought home, it's something called the ultra-screening: a blood tests plus an ultrasound between weeks 11-14.

sorry I missed your last post before replying. That's what I'm having done too. My Ob calls it early assessment screening, like you said NT scan and blood test. I think it's worth doing it for the peace of mind. Keep in mind that most likely your baby is just fine, a "positive" on that type of screening test doesn't mean there's anything wrong with the baby, in most cases the baby is healthy and in the small chance there was something wrong finding out early allows you to make appropriate arrangements for the birth and care of your LO.

Brandiewine11 · November 2013

I chose do to genetic screening to check my carrier status for CF, SMA, and Fragile X before we got pregnant. I don't know any of my family history, so this was important for me.

For this pregnancy, we are doing the NT scan and quad screen. We'll make a decision about other tests if necessary. It's not about choosing whether or not to have the baby. It's about knowledge. If I was having a baby with a specific condition, it would drastically change the way I do things. I would want to make sure the hospital I go to has a NICU and doctors equipped to care for any potential complications.

I have worked in a children's hospital and seen the complications that can arise with these babies, and how much worse it can be if they are born somewhere not equipped to care for them, or without prior preparation.

I'd also want to do as much research as I can and find a support system, talk to other parents, etc.

So for us, it was very important to at least know the risks.

afk2013 · November 2013

I would want to know so I could mentally and physically prepare and celebrate when my perfect-in-my-eyes baby is born rather than grieve any issues. I would also want to make sure my baby has the best doctors lined up to assist with whatever challenges it might face.

chloephoebecali · November 2013

For my first, I was 29 and should have been low risk, etc. Well we had the NT/quad and I came back at higher than normal risk. I was not forced into an amino, nor was it really an option in my mind. Instead, we were offered and received a genetic ultrasound/counseling at a specialty u/s clinic. It provided my doctor with more number/scans that were able to bring me comfort and more knowledge. It was non-invasive and I don't regret having the original scan that caused us some concerns. I don't care if there are false positives. I can do what I chose with that information as I chose whether it be a genetic scan, amino, or wait for birth. I will always go for knowledge over none, no matter how low risk the situation. I'd want to be prepared mentally and physically, with the right doctors on call when I do deliver. It's not about abortion options. It's no hassle to me to get the test done and another view of baby isn't bad, either.

rheard3582 · November 2013

I didn't work first and don't plan on it with this one. there were just to many variables

Mrs_D_in_KY · November 2013

If I do have a child with some abnormality, I'll deal with it at birth. I chose not to have testing with my son and probably won't with this one either.

Raquelly123 · November 2013

Such a personal choice, but for me I'm ok not knowing. One more hurdle I'd rather not worry about jumping over unless it presents itself. And for me, completely my personal opinion, it wouldn't change my decision about keeping the baby. I understand others who would want to know because they couldn't/wouldn't want to support that burden, but for me, just not worth the extra worry waiting for test results

momthatlifts · November 2013

I was never offered and it worries me because next appointment I will be 14 weeks. I would opt out anyways

FemShep · November 2013

I don't mean any disrespect, and of course this is a personal choice, but I don't understand women who say, "It doesn't change anything." I get that knowing your child doesn't change your decision to continue your pregnancy.

However, having certain chromosomal conditions does change things, dramatically, when your baby is born. Your child will likely need special care, and may require surgery, at birth. Depending on the condition, you may want a different car seat (babies with trisomy 18, for example, tend to do much better in care seats optimized for preemies). You may need to arrange in-home nursing, specialist care, or additional in-home equipment.

For me, personally, I'd rather know about these things ahead of time so that I can be sure I'm delivering at the best hospital for my baby's medical needs, I know that I've done everything I can to get baby the help they'll need, and I've prepared myself mentally, physically, and emotionally for what's to come.

dragonfly711 · November 2013

My husbands nephew has Downs he is in his later 20s now.

We are in are 40s so we are having the genetic testing. Even if we have a baby with Downs we will still be happy. We just want to know ahead of time just in case. Down's children can have heart issues so I would rather the delivery team know a head of time just in case something happened during delivery.

We just want to pre plan and for us it is a peace of mind as well.

Some insurance companies do not cover genetic testing. You should called your insurance company to find out first. Also the NT scan has to be done 11-13 weeks.

Linet1027 · November 2013

I'm high risk and I have worked with autistic/mr/add/adhd for many years and I have NO desire to ruin the joy of my 1st pregnancy by getting a test that may or may not be accurate. Only positive way to know comes when they're born. It they have a disability, it won't change my love for my child. Some can't handle the thought of a child who's not "normal" by societies standards. Well, that's my opinion. Do what you feel will ease your mind. Im just thrilled to be pregnant finally.

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