1st trimester birth defect screening - any experience?

[deenass]

So, now that I've been "outed", has anyone had this? My midwife said it is an option, it is a blood test and an ultrasound done between 11-14 weeks. Detects trisomy 13 (or 18, not sure which one) and down syndrome.

My husband wonders why I wouldn't have it done (since I will have quad screen and ultrasound) and I guess I'm hesitant b/c I've never even heard about it.

The paperwork I got says it is slighly more accurate than the quad screen.

[boolady]

I didn't do it, but my doctor's office did tell me about it. I'm sure everyone's health care provider gives different information, but told me they primarily recommend it for 35 + moms at this point. They also told me that many insurance policies do not currently cover it, and it can be quite expensive. With that information, I found out that it wasn't covered by my insurance because I was not 35 and not otherwise considered "high risk" by my insurance company and just waited for the quad screen. However, a friend just told me last night that her insurance covers it, so she's going to have it. Why not?

[maestramommy]

I had a blood test done between 11 and 14 weeks. I think it was the AFP or FIP (something like that!). But the ultrasound didn't happen til 18 weeks or so. I think 14 weeks is a little early to see anything.

Not sure if the one I got was the quad screen, but be aware that the blood test does have a percentage of false positives. That happened to my friend, and she was super stressed until she could get an amnio, which showed everything was fine. She elected not to have it with her dc2. I think I had to have it because I was already over 35.

[pb&j]

I had it done with both pg's and am a satisfied customer. The doc uses ultrasound to measure the nuchal translucency (fluid filled space at the back of the baby's neck), and bloodwork to check several hormone levels. The nuchal measurement, in combination with the blood levels, gives a risk for Trisomy 21 (Down syndrome) and Trisomy 13&18. It is more accurate than the quad screen, and occurs several weeks earlier.

More info at:
http://womenshealth.jhmi.edu/ob-ultrasound/patients/nt_info.html


-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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[pb&j]

Melinda -

It's amazing what you can see at 12 weeks! In addition to all the "important" structures, you could definitively tell gender for both of mine at that ultrasound. The doc did say not to rush out and buy gender-specific clothing until the 2nd tri u/s, though.


-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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[juliasmom05]

I had the Early Risk Assessment done which includes the nuchal transluency test (US) and the blood test at 12 weeks. I was 39 at the time, and didn't want amino. I didn't hesitate at all in deciding to do the test. The results of this test put me a very low risk for T18 and T21 and made the rest of my pregnancy less stressful. I think the test is pretty common now. Like the quad screen, it is a screen. It is not diagnostic. FWIW, my insurance covered it.

HTH

Marci

Mom to Julia 4/05

[MarisaSF]

Yes, I did it. At the time, my medical center was one of the few that offered it. It may still be the case that it is not offered everywhere. (If so, you are lucky!)

I pricked my finger at home and sent the blood sample somewhere. I had an u/s at the hospital.

I'm a "know as much info as possible as early as possible" person.
I saw no reason not to get it and many reasons why I should.

[asha]

Yup, got it done. My doc did not push for it, but suggested that I do it. My insurance covered it, so I decided to got for it. I am pretty sure I would not have done it if I had to pay outof my pocket. It costs 1100$ for the insurance company.

Anyways, it was great to know that my risk is really really really very low.

[mamica]

I had it done as well...under 35 years of age. It's only been around 1-2 years. It is more accurate, and I thought the false positive risk was lower (?). The pp's description of what it measures is perfect.

I definitely plan to get it done when we get around to dc2.

[lisams]

I did it - a finger prick and u/s at 12 weeks. They measure the nuchal something which is the fluid behind their neck. It was very reassuring for me. It's not a gaurantee though, it's a risk evaluation, so the results will tell you what your chances are, for example 1 in 10,000.

[boogiemom]

I could have had the test but declined for both pregnancies. I chose not to do it for a couple of reasons.

1)It is an early test providing the opportunity to terminate a pregnancy if a problem is found -- for me personally, that is not an option I would consider.

2) I have known several women who had this test and something came back on the test showing a possibility or likelihood of a problem with the baby. Some women went on to have amnio's which then indicated that the baby was fine. There was obviously a lot of stress between this test and the results of the amnio. One woman, whose test indicated a high probability of down syndrome, did not follow up with an amnio and resigned herself to the fact that the baby had down syndrome. Turns out, when the baby was born the baby was perfectly healthy. Again, a whole lot of stress that could have been avoided.

3) Some say they feel better knowing that the baby is healthy after this test comes back fine. Well, this test only tests for a limited number of possible issues. There are so many other things that can happen that I didn't feel that this test could really alleviate my expectant mommy's worries.



I do know that this is a tough decision for some mommy's. Good luck in deciding what is right for your heart and your family.

[Zana]

I had it done at 13 weeks too. Blood test and Nuchal fold measurement by U/S. If you do this I believe they only do an AFP later (instead of a quad screen). Altogether they gave me general peace of mind not to go ahead with an amnio. It is not confirmatory test for genetic abnormalities though, only gives you odds ratios like PPs mentioned.

The insurance is important to check on, its usually not covered I think. However, my OB included the U/S as part of the doctors visit (therefore fully covered) and I only had to pay about $80 for the blood test (they sent it out to a particular lab not covered by my insurance).

[jd11365]

I had it done...and just got my final results yesterday. It was all good news. :)

Because of my multiple loss history, and chromosome issues, I chose to do this before I considered an amnio. If this was good, I would not do the amnio. After 3 losses, I wasn't going to do anything with even a minute chance of m/c if I didn't need to. The u/s detects not just downs, but certain Trisomies that can me terminal. It was just like a regular u/s only they look at a specific measurement at the back of the neck. They also take your blood that day, and again a couple of weeks later. They integrate the 2 blood tests and the u/s to give you a final result. For me, it was very important to do, and was completely non-invasive.

[jd11365]

I had it done...and just got my final results yesterday. It was all good news. :)

Because of my multiple loss history, and chromosome issues, I chose to do this before I considered an amnio. If this was good, I would not do the amnio. After 3 losses, I wasn't going to do anything with even a minute chance of m/c if I didn't need to. The u/s detects not just downs, but certain Trisomies that can me terminal. It was just like a regular u/s only they look at a specific measurement at the back of the neck. They also take your blood that day, and again a couple of weeks later. They integrate the 2 blood tests and the u/s to give you a final result. For me, it was very important to do, and was completely non-invasive.

[egoldber]

I had the nuchal translucency scan done this time. It was not readily available in my area when I was pregnant 2 years ago. Providers have to be specially certified to do this, so it is often only higher level hospitals and high risk specialists that do this. It checks for Downs, trisomy 13 ans trisomy 18.

I did it because I am 38 and because I also have a history of miscarriage and wanted to avoid an amnio if at all possible. The combination of the NT scan and Level 2 ultrasound has very high reliabilty and far fewer false positives than the quad screen (blood work done early in the second trimester).

One downside is that the NT scan does NOT screen for neural tube defects, so I elected to also only do the AFP portion of the quad screen at 15 weeks.

Personally, I want as much information as possible. I may or may not have chosen to terminate based on results but I am the kind of person who does not deal with surprises well and likes to have as much research done as possible.

If you're not over 35, I would probably decline it though unless there were other risk factors. Also if you're not 35 and don't have risk factors, your insurance may not cover it, and it is quite expensive.

[annasmom]

I got it done with this pregnancy. My OB practice does it for all of their patients, and they said that pretty soon it will be the standard of care for all practices.

[teddy]

My OB told me about this test, the BUN test (Blood, Ultrasound for Nuchal Thickness). I called my insurance to see if it was covered and it is. I had to give the specific codes for the test, which the insurance person checked. Per my doc, it has a 90% accuracy rate with a 5% false positive rate. The results are reported as either being "high risk pregnancy" or "low risk pregnancy," as the risk of having Downs syndrome or Trisomy 18. Does that make sense? If you are high risk, then you might want to look into further diagnostic testing.

[bubbaray]

First of all, congratulations!

I was offered the 1st tri test (can't remember the name), the blood test and nuchal fold u/s by my OB. My GP really pushed it, but after discussing it with my OB, I decided against it. I knew that I wanted the amnio, which is diagnostic, as opposed to any of the screening tests, which aren't diagnostic. For me, it was a personal choice, based on the fact that I knew I wanted the amnio (which I had today).

The addition of the NT u/s increases the accuracy of the test results. I understood that the NT fold measurement is only for Downs. I'm not sure exactly what the blood test measures.

FWIW, my OB told me that an amnio is very accurate and tests for far more things than the screening tests (a whole host of genetic disorders, as well as spina bifida and other things I can't remember right now). For me, that definitely factored into my decision. Like I said, its a very personal decision. Given the risks associated with amnio, it was not a decision I made lightly (I had a m/c in January and a long IF history), but one test that I was 100% sure I wanted to do.

Good luck with your decision!

Melissa

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[tarahsolazy]

I completely respect your decision and reasons for it.

However, I really urge people who decline screening tests because they would never terminate a pregnancy to consider that there are other benefits to some of these tests.

It can be very helpful to diagnose some disorders prenatally. Medically, it can insure that the mother delivers her baby in a hospital prepared to care for the problem. Delivering a spina bifida baby in a tiny community hosptial increases the risk that the baby will develop serious meningitis, due to the need for transport to another facility and lack of experience with the lesions in smaller hospitals. Babies with Down Syndrome often have heart problems that can be life-threatening, and are best initally managed at an advanced center. Etc, etc. Psychologically, parents expecting babies with health problems get some time to process that before the baby is born. Some people really need that time, others maybe don't.

Naturally, these screening tests don't diagnose anything, and there are false positives. But the false negative rate is lower, so that most of the truly at risk pregnancies can be identified.

This observation may not matter at all to anyone, but its a part of this discussion that I rarely see included.

[HannaAddict]

The type of U/S she is describing would not work at 18 weeks. It is an ultrasound to look at the nuchal fold and has to be done in the fairly narrow, early window to measure the fluid/nuchal fold at the base of the neck. The 18+ week ultrasound is a totally different test. The nuchal fold test has been done in Europe and Australia for several years, was in the final research stages a couple of years ago in the USA and is now out of the research stage. It is non-invasive and a great screening test, ie it doesn't diagnose a problem but will give indicate if there could be a problem and parents can decide to do additional, more invasive screening (ie amnio).

HTH,
Kimberly

[HannaAddict]

Thanks Tarah,
That is exactly why we opted to do the non-invasive screening. Though we wouldn't change the course of the pregnancy, there are really good reasons to know ahead of time what you are facing. My OB said the same thing, it could change how you deliver (vaginal versus c-section), what doctors are present, where you deliver, etc. and being prepared ahead of time can help a ton. Even a relatively small thing like breast feeding of a child with a disability is something that can be prepared for.

I do think it can feel overwhelming with all the info you can find out and having to make choices of how much to find out ie if the screening comes back positive do you do amnio (with attendant risks) or just wait for later U/S to check things out, etc.

I always like hearing from a "real" doctor too! Thanks for your post.

Kimberly

[dules]

I have similar issues with the test and wish I had not done it. It added a lot of stress to my pg without need. The test only talks about your *likelihood* of a problem, it does not tell you it's not there...so if the normal likelihood of Down's for your age group is 1 in 300 and your test comes back at 1 in 150, well there you've doubled your chances BUT the likelihood is still that your baby will not have Down's.

Anything these tests needed to tell me could have been determined at our Level II ultrasound (so that we could prepare for any special needs at delivery etc.). If we were to have another child I would definitely decline.

I'm sorry. I just can't seem to put into words how much I regret having that test.

Best,
Mary

[lisams]

That's why we had it done as well. I would want to be prepared. For example, some Down Syndrome babies have a hard time breastfeeding, and if I knew my child had down sydrome I would have help lined up and have researched through the possible problems and ways to deal with them.

[o_mom]

ITA with this also.

There are other ways that you can benefit from knowing ahead of time. For example would you consent to a C-section for fetal distress knowing that the baby had Trisomy 18? Would you want to have clergy present? Would a c-section be in the baby's best interest with spial bifida? Knowing that your baby would go directly to special care would you give your DH any different instructions or change your birth plan?

Termination is NOT the only reason to have these tests and you are right, Tara, that this is rarely discussed.

[pb&j]

Thank you for mentioning this, Tarah. ITA.


-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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[boogiemom]

That's a good point. I completely agree that people need to consider all of these things when making their decision.

I was only speaking to my personal situation. -
I was not high risk in any way. I was 26 years old for my first delivery and 29 years old for my second so age was not a factor. Also, I was already delivering at one of the top hospitals in my state and the only large hospital I would consider of the options close to me. If there were to be any issues at birth, I would already be at the hospital to which I would have been sent had I delivered anywhere else.


Also, I know that some parents do benefit from knowing these possibilities ahead of time. Those people should definitely consider the test. As for me, I would just stress and worry about everything going wrong to the nth degree. I know this about myself and therefore, I didn't feel it would benefit myself or the baby to have all of the added stress throughout the pregnancy.


Certainly, each mom and each family have to do what is right and best for their own situation. I feel that I made the right choice for my own situation. I'm certainly not condemning anyone for choosing to have the test. It just wasn't for me.

[anutalp]

I would definitely do it.
With both of my pregnancies I did cv-sampling (like amnio just done earlier on week 12). I'm a low risk but I decided to do it anyways.
For me giving birth to a child with the birth defect is not an option. If I would discover that something is wrong I would do an abortion.
So I guess it depends what will you do with the result...
Congratulations!!!

[shilo]

yes, had the nuchal u/s only, done at about 12.5weeks. i was 28, but my ob practice recommended it as opposed to the triple/qaud screen after i lost a twin of ds around 11weeks. i was told (by both my OB and the peri up at stanford that did the NT u/s that the blood markers in my case would almost surely give a false positive because of the resorbing twin. I wound up having 2 level II u/s after that (for DS and to track the resorption of the 2nd - i never actually wound up m/c). at both level II's, the peri's told us they were taking extra time to scan DS's spine looking for neural tube defects, since i couldn't have reliable blood work done. ours wasn't a usual case, but just letting you know that they can gain valuable information from just the nuchal translucency screening which can help you with your decisions to proceed or not with more definitive testing.

hth, lori
Sam 5/19/05 How lucky I am that you chose me.

[maestramommy]

Really?! Hmmm, I wonder why I didn't get this test, esp. since I was of "advanced maternal age?" Actually, I was supposed to get the ultrasound and amnio at the same time, but I declined the amnio. So this must be a more advanced test. Oh well, maybe next time.

[maestramommy]

Ry, I had my "determine birthdate" ultrasound at 11 weeks. I was amazed to see a baby in there, with arms waving, scratching the foot, etc! But I didn't know you could already tell the gender. Certainly the nurse who did the ultrasound didn't say anything. Still, there's a big difference between 11 and 12 weeks I'm sure!

[egoldber]

I'm not sure where you live, but it is not available in many parts of the country or in smaller areas. The person doing the ultrasound has to be specifically certified to do this test.

http://www.babycenter.com/refcap/pregnancy/prenatalhealth/118.html

[HannaAddict]

I'm sure Beth is right. Not sure where you are located. The test is still new enough in the US and requires a high degree of precision for correct measurements, etc. so not available in all markets. Our local "baby factory" hospital in Seattle and their associated radiologists were part of the national study a couple of years ago. My cousin was just referred to this same hospital from her town about 3 hours from Seattle for the test since no one in her area was trained to do this test.

Kimberly

[fattytuna]

I think it ultimately depends on what you do with the information once the test results come back. It's a very personal chioce.

I only had the AFP done (NT test was not offered by Kaiser at the time), although I don't know if it would have mattered anyway. My AFP test came back with a high risk of Trisomy 18. Unlike Down syndrome, Trisomy 18 is usually fatal, with most of the babies dying before birth and those who do make it to birth typically living only a few days. (There are rare cases where the babies live at least one year, some even longer.) I didn't want to spend the rest of my pregnancy with a big question mark hanging over my head every day and I needed to know one way or the other so I could take the next step, whether it'd be termination or carry to full term. I went on to have a Level II u/s. Although the perinatologist did not see typical soft markers associated with Trisomy 18, he did see echogenic cardiac foci (bright spots indicating the number of echoes inside the left or right ventricle of the heart). While some researches have suggested cardiac anomaly related to Trisomy 18 and 21, a lot of babies with an echogenic focus in the heart are completely normal. My husband then asked the perinatologist point blank what would he do if this happend to his wife, to which he replied, "Are you asking what I would do or what my wife would do? My wife would have said no amnio. I would suggest get the amnio." So I had the amnio, which is why I said earlier it just happens that it wouldn't have mattered whether I had the NT test done or not. Luckily the amnio came back negative on all three Trisomies (13, 18 & 21). If you asked me when I first found out I was pregnant whether or not I would have had an amnio, I would have told you no way; if you ask me today if I would have had an amnio if I'm pregnant again, I would have told you definitely. That's why I also mentioned it's a very personal choice. While I have had much better days than the two weeks waiting for the amnio results to come back, it was better than not knowing.

[pb&j]

It has to be a good u/s machine, an experienced tech/ob, and a tech/ob who is willing to make a guess! It's not always correct - in males, sometimes things take a little longer to descend and whatnot. But seriously, at 12 weeks, there was *no* mistaking that my boy was a boy. Holy mackeral!! :D


-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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[bubbaray]

No, this test is not more advanced than amnio. Amnio is diagnostic, the NF/NT test is a screening tool, as is the quad screen blood test.

Generally, while u/s is used as part of the amnio procedure, you don't get the level II u/s until 2-4 weeks after the amnio (assuming you have the amnio done at 16w).

HTH

Melissa

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[deenass]

I keep reading that the test is "non-invasive" but no where does it say whether the ultra sound is internal or external.

[lisams]

It's not vaginal, if that's what you mean. It's the same kind you would have at 20 weeks.

[pb&j]

If the tech/ob can get the view they need transabdominally, they'll do it that way. If they can't, they may need to do it vaginally. I've had one of each (same doc and tech both times).


-Ry,
mom to Emma, stillborn 11/04/04
and Max, 01/05/06

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[bubbaray]

I agree -- it will usually be transabdominal, but could be transvaginal (with the love wand) if they can't get a good view the other way.

And, its not the same u/s as @ 20 weeks -- they are looking for different things/structures.

HTH

Melissa

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[lisams]

What I meant is the procedure was the same as the 20 week u/s at least for me, but you are right, they look for different things.

[vdrake71]

I just had it done last week. I turned 35 the 1st part of August. When my doctor brought it up I asked about the accuracy, the cost, and if it would harm the baby. I was told, the accuracy is fairly high, but it has to be done during the weeks they specify. The cost, insurance pays and no harm to the baby. I received my results on Tuesday and this is what they told me:
Before the test my risk of Down was 1 to 278 after the test my risk is 1 to 858.
Before the test my risk of trisomy 13 and 18 was 1 to 525 after the test my risk is 1 to 10481.

[vdrake71]

I just had it done last week. I turned 35 the 1st part of August. When my doctor brought it up I asked about the accuracy, the cost, and if it would harm the baby. I was told, the accuracy is fairly high, but it has to be done during the weeks they specify. The cost, insurance pays and no harm to the baby. I received my results on Tuesday and this is what they told me:
Before the test my risk of Down was 1 to 278 after the test my risk is 1 to 858.
Before the test my risk of trisomy 13 and 18 was 1 to 525 after the test my risk is 1 to 10481.