Prenatal Genetic Testing--help!

Updated on January 18, 2012
N.J. asks from Redlands, CA
12 answers

I don't know exactly where to begin so I apologize ahead of time if this post gets lengthy. I am currently 20 weeks pregnant with our third boy. the first prenatal visit with my OB I was given the standard orders for all the 1st trimester screenings, in addition the nurse blurted out, Oh by the way our office is now also offering a genetic recessive screening test you are welcomed to take. There is no blood, we just collect your saliva and send it off and it tests over 100 different recessive genetic disorders that normally would go un-diagnosed.

Not really thinking except hey a test that doesn't require blood and if I test positive for a disease we can get early treatment for it, sure lets do it. Of course, I come back positive for 2 recessive disorders. One's a metabolic disorder that's pretty common (I can't remember the name of it tho) that may cause you not to be able to metabolize some anesthesia. so nothing too terrible just something you want in your records, because it could take you up to an hour to come out of it. Those with the recessive can also have problems but just a slower awaking like 5-10 minutes not as drastic as up to a full hour for those who have the disorder.

The other disorder is a congenital disorder of glycosylation 1a (CDG-1a)--a pretty life changing disorder--very scary, but also very rare. Now before i go any further prior to even having any testing done, my husband and I whole heartily agreed this type of information would be just for knowledge and future preparation, basically there is no way we would terminate a pregnancy. We'd be thankful and delight in whatever hours, days,months or years we have with our children--really we don't know when our time is up healthy or not, right?

Anyway here's the problem my OB said this all new to her too, really has no idea how to proceed etc, so she just referred me to a genetic counselor to see what our options were. Meanwhile, insurance denies the labwork because it wasn't preauthorized etc etc etc. After I did the test I checked our plan and genetic testing is only covered if its medically necessary ie family history, child is symptomatic etc. Okay my bad I'll cough up the $400.00 since its a 1/4th the cost of the blood assay tests normally done.

Genetic counselor states in order to give a better counsel she recommends my husband also get tested. If he doesn't carry the gene no need to worry for this baby's health. If he does there's an obvious 25% chance the baby could have this disorder. Now here's my dilemma. My husband doesn't want to take the test unless the insurance covers it.

His reasons are we don't have another 400 laying around for a test that we really can't do anything about until the baby is here anyway. we know the symptoms/signs of disorders if we suspect anything we could have the baby tested and the test would be covered. Its also not going to change the outcome of our pregnancy. there is no cure for the disease, only thing for this particular subtype is things to make the quality of life better. Those that make it through pregnancy generally loose their battle within their first year of life--scary for sure, but research is changing this statistic mainly because of the awareness of the some are living a very long lifespan. I mean the information I've read states there's really only 1000 children dx with this disorder in the states--pretty rare if you ask me

At this point, I was okay with his decision to he'll take the test if insurance covers it, and if not, lets just wait until the little guy gets here. Deep down, and maybe its my naive ignorance, but I truly feel/felt everything is perfectly fine with this pregnancy. If there was anything wrong I truly think I'm strong enough to handle it. And heck, if I was pregnant a yr ago earlier, we wouldn't have even known any of this or if I was smart enough to think a little longer and decline the test...But after my OB visit this morning I don't know what to do.

She was shocked I didn't 'want' or 'need' to know. She was adamant that for the health of the baby we should have my husband tested. I told her my husband's reasoning mainly $$, but also even if we did know now what. the treatment is based on symptoms, each child's disease progresses differently--albeit there are common symptoms to treat, but we wouldn't know until the baby was here anyway? Per the geneticist there isn't anything we could do inutero, so I'm not sure I understand the 'need' to know.

I told her I would discuss with my husband further, and see what he says, and she said it's okay sounds like your 'talking to a brick wall anyway" . Really? I told her I was fine with our decision up until now, so I guess we need to discuss it further. If the insurance covers/authorizes it we have no problem taking a test.

So my question for all of you is Would you "HAVE" to know? Am I the only one, who up to this point, would have been fine on just waiting? We have no family history of any problems at all, not even mild developmental delays. I have two healthy boys and providing everything goes well with this pregnancy-- this will be our last child. I'm just having doubts now about whether I should now start pushing my husband towards him 'needing' to take the test....and of course now I'm worrying--but I don't know if its because I feel like my motherly decisions are already being questioned, or because there is always that "what if"....

My OB has told me she's is already going to schedule me for 2 extra ultrasounds one at 28 weeks and then another at 32 just to make sure everything is okay.. Thoughts anyone that can help a poor emotional pregnant mama out....

What can I do next?

  • Add yourAnswer own comment
  • Ask your own question Add Question
  • Join the Mamapedia community Mamapedia
  • as inappropriate
  • this with your friends

So What Happened?

Deleted to prevent being "shared" on Facebook

More Answers



answers from Santa Barbara on

Congratulations on your pregnancy!! I work for a national lab as a genomic testing specialist specializing in women's health...I know exactly what company your OB was convinced to use. "It covers so many conditions, it's saliva and it's only $350-$400, blah, blah, blah".

Unfortunately, there is not enough research behind their method of testing, there are so many false positives and I almost never see it covered by insurance, it's too experimental and does not adhere to guidelines necessary for prenatal genetic testing. It's really good for MY business but I care about my patients.

Your OB has no way to counsel you on these tests, she doesn't know what to do. It sounds good in theory but not the case. I support genetic testing but this method...yikes.

I am so sorry you are going through this. I would perform prenatal genetic testing (NOT with this lab) but truly it is more for preparation. I work with numerous OB offices that have been able to detect Cystic Fibrosis, Fragile X and Spinal muscular atrophy. Education and knowledge to me is very important.

*** Yikes, I still have three more OBs to see today but I have to add:

- With an autosomal recessive condition with both parents being carriers, there is still a 25% chance in each INDEPENDENT child that they will have it.
- You can't spot a carrier across the room.
- I met a father/attorney who had no idea about prenatal genetic testing for spinal muscular atrophy (70% of the children die before 2 years old, many in utero...they just stop moving and die). The parents suspected something when the little boy couldn't move his neck. Because they had the resources they went to all sorts of doctors and specialists to try to help his son. He would have loved to know ahead of time to be able to provide the resources her needed as far as medical care and equipment (this is where knowing makes a difference). His son passes away when he was three. We couldn't have changed the outcome but could have not wasted over a year of his life looking for answers.

4 moms found this helpful


answers from Minneapolis on

So this test showed that you are a recessive carrier of this disorder? So, even if your husband was also a recessive carrier of this (quite rare disorder), there would then be a 25% chance that this baby has this disorder (had acquired recessive genes from both of you).

IF your husband was tested, and the test showed he was a carrier, would there then be a way to test your baby before birth?

I guess, unless I could convince the insurance company that this is now a necessary test, based on your results, AND there was then a way to test the baby AND your insurance covered that also...I'm with your husband that this money could be used better somewhere else.

Doctors want to know everything, and use every test. As long as your prenatal care wouldn't change either way (I would check to see if your insurance will cover these extra ultrasounds before agreeing to them) then it is your choice if you want to take the steps to find this out. As you said, if you had said "no" to the first test, none of this would even have come up.

I'm a "need to know" kind of person, so I'd be on the phone with the insurance company to see if I could get them to cover the test, based on the results you got on yours.

3 moms found this helpful


answers from Houston on

To me it's just another symptom of our bloated healthcare system.

Sure, there are some genetic disorders that are good to know about ahead of time. But the recessive disorders? Where if both parents have it there's still only a 25% chance the child will?

My OB doesn't even push the "normal" first trimester screenings. It's something he offers if the parents want it. If not, no biggie. Yes, there's a value to knowing some of those things ahead of time, but personally I cannot imagine going through the anxiety and emotion of 9 months of knowing I was going to be bringing a disabled child into the world that may never live independently. The pressure of that would cripple me, personally. I would rather find out at the birth and just be forced to move forward and deal with it then - so much easier to handle when I can take some action.

So, basically, what's happened is you were offered a non-routine, non-covered screening for disorders that your child may only have a 25% chance of having IF your husband also carries the recessive gene ($$), to be referred to a specialist for counseling ($$), to be scheduled for extra ultrasounds ($$) for something they may or, more likely, may not be able to do anything about until the child is born.

While I'm sure your OB's intentions are good, it just drives me crazy. THIS is a single example of the entire reason our healthcare system is completely out of control. We can't screen for everything, and even if we could we can't do something about everything, and even if we could, WHO will pay for it?!

BTW - I hope no one takes offense at my third paragraph. I did not mean in any way that having a disabled child would be crippling for me - it would be the knowing and anticipation of what to expect and how to be a mother to a disabled child that would cripple me. I'm one to want to know what to expect, and if there's no real way to understand or prepare, then I would rather not know until I actually have to deal with it.

2 moms found this helpful


answers from Los Angeles on

This only reaffirms how happy I am that I refused all genetic testing and screenings. Why worry about things that might be, even if they have a high probability? And so what if you do know? Will it change anything? I'd rather wait. Be optimistic and enjoy your pregnancy. You'll know soon enough.

2 moms found this helpful


answers from Houston on

No, I just declined genetic counseling as well for similar reasons, I am also 20 weeks pregnant, over the age of 30, and this is my 3rd pregnancy. It really didn't bother me at all to decline it.

If preventive measures could be taken in utero (which I know is sometimes possible with certain things such as removing a tumor, etc) then it may be worth it if your odds were that much greater than they are currently, but if there is absolutely nothing you can do at this time, then I would put that money and energy on focusing on the birth of the child, and then when the baby is here, then go about with any testing IF needed, (which is highly unlikely).

1 mom found this helpful


answers from Seattle on

This is ridiculous! Both the testing and the reaction of your OB. She has NO experience with genetic counseling and offers this test to all of her patients and then does not know how to react to the results. RIDICULOUS!

Statistically EVERY PERSON carries at least 2 deleterious recessive mutations. They are typically so rare that your chance of meeting someone else with the same mutation is negligible.

I think this would be a deal breaker for me and I would be looking for another doctor. NO, you do not HAVE TO know, if you feel comfortable with not knowing. Your physician should be supportive and accepting of any decision you make regarding this! This is not her decision to make but YOURS. What is next? Is she going to talk you into terminating your pregnancy if she does not like the outcome of further tests?

I would run, not walk from a doctor that treats me like that.

1 mom found this helpful


answers from Cleveland on

Hi mama, Congrats on your new little one.

i'm going to pm you to share my story. but for any one else reading I think at this point, if when baby is born you or the drs have any concerns you are already one step ahead because you know what to look for. and could then base treatment from there.

Have someone with you at your next OB appointment if you need the support. Tell the DR you decline any further testing,but if dr wants they are more than welcome to read up on the disorder, find specialists in your area should you need them, and show support that way etc. After hearing Christine, i would ask for much more info about the company that is offering the inital testing and how accurate results are.

Good luck to your family.

1 mom found this helpful


answers from Los Angeles on

I'm with you. If it was convenient and insurance was covering it, fine I'd make my hubby do it. If not, forget it. The likelihood that the outcome will be the worst, and your baby actually has this genetic disorder, is pretty slim (your husband would have to have the rare recessive gene too, you've already had two other kids with clearly no sign of the disease). And since you wouldn't be able to do anything about it during the pregnancy, just relax and enjoy the pregnancy. It's hormones (and a crazy OB) that's getting to you. I let my OB get me all stirred up about swine flu when I was pregnant with my second (remember swine flu?) She had me losing sleep over all the pregnant women who were dying of swine flu because they didn't get the vaccination. Oi. I was just in a crazy hormonal state.
Enjoy the pregnancy, it will all be fine! You wouldn't even know any of this if you had skipped the testing.

1 mom found this helpful


answers from Milwaukee on

No, I wouldn't "have" to know. I wouldn't have gotten the genetic testing done to begin with, but I understand why you did.

As for your OB scheduling extra ultrasounds, I highly suggest not going ahead with them. Do a little research on the safety of ultrasounds.
There is a lot of information available.

Chances are that you have a perfectly healthy baby and you wouldn't want to jeopardize that with useless tests and stress. I think you're doing the right thing. It must be hard to have your OB giving you a hard time about it -but from my perspective, she's wrong. You don't NEED the test. ESPECIALLY because you can't do anything about it in utero ANYWAY. (btw, my caps are not yelling - I don't like how it appears that way in font though.)

Good luck with everything!!! :)

1 mom found this helpful


answers from Washington DC on

My best friend had received an amniocentesis and they told her that her son would be born with down syndrome. Well she ended up delivering a beautiful, healthy baby boy. So with that information I refused the test because the stress that me and the baby would endure. I think you just need to relax you have a 2 children already that weren't born with any disorders and you have had the same recessive gene in your body when they were conceived. Relax if you do have a healthy baby you are stressing way to much and that could harm the baby. Whenever you start to worry about your unborn child just pray and say "God please calm my fears and give me a healthy and happy baby" and trust in your heart that he will give you what you want and what you need.

I am also pregnant and i don't take those test because it sounds like a good idea but in the end you worry yourself half to death.

I hope I helped your situation and hope everything goes great

1 mom found this helpful


answers from Denver on

K question 1 is this the same dad as with the other children? If so then the possible disorder would have already shown itself in one of your other children. Since its recessive the only way the kids could have it is if daddy did soooo with that said if your other children are healthy this one will be to. I would relax and just know that you have it on record.

1 mom found this helpful


answers from New York on

I would have jumped at the chance for a 400 dollar genetic test. It is a tiny drop in the bucket compared to the cost, stress and heartbreak of having a sick baby. I know. My hubby and I have no history of anything, we have a healthy 4 year old son, and now we have a terminally ill 11 month old daughter. My doctor never told us about the number one genetic killer of babies under 2, spinal muscular atrophy, which my beautiful daughter has. I never heard of it, never knew my hubby and I were carriers, yet 1 in 40 people are carriers! Every one should know their carrier status. There are many many awful things out there, but the # 1 genetic killer, I would want to know.

For Updates and Special Promotions
Follow Us

Related Questions