Prenatal Screening
April 30, 2015 1:31 PM Subscribe
Just found out that we are expecting our first child. We are about 8 weeks along! We are lucky enough to split out time between Kentucky and Florida. Currently, I am seeing two different doctors, one in each state, as we travel back and forth a bit. Coming up on 10 weeks, both doctors have recommended prenatal screening. One office recommends a "Sequential Screen" test (also called Integrated Screen as well as a Quad screen). The other office offers a similar NIPT screen called "Panorama Prenatal Screen". I understand that different companies offer different services, but I'm trying to figure out if one of these is recommended over the other. Any insight would be appreciated!
The quad screen is very well established and its predictiveness and specificity are well understood. This Panorama test is very new, and under trademark, which always makes me nervous regarding medical tests. The International Society for Prenatal Diagnosis shares some of my concerns. I might consider doing the Panorama test in addition to the quad screen, but I wouldn't do it instead.
posted by KathrynT at 1:58 PM on April 30, 2015 [1 favorite]
posted by KathrynT at 1:58 PM on April 30, 2015 [1 favorite]
The NIPT screening (Panorama) is much more definitive than the sequential/integrated screen. Though neither is considered diagnostic, the Panorama is much more sensitive and is near-diagnostic. NIPT screening is generally restricted to women with some higher risk (including advanced maternal age), but some insurers will cover it for all pregnancies.
Personally, I'd go with the NIPT screening of its offered because of the much lower risk of a false positive or negative.
posted by devinemissk at 2:00 PM on April 30, 2015 [3 favorites]
Personally, I'd go with the NIPT screening of its offered because of the much lower risk of a false positive or negative.
posted by devinemissk at 2:00 PM on April 30, 2015 [3 favorites]
The Panorama screening test cultivates fetal DNA in your blood stream to test for the risk of chromosomal abnormalities, whereas the sequential screening tests for the presence of certain proteins to evaluate the risk. This is usually paired with an ultrasounds nuchal fold test.
I would do (in fact, I did) the fetal DNA test (a different brand, similar approach). It is much more precise. The chance of false negative is very very low. The chance of false "positive" is much lower than the quad screening. Many people test for an elevated risk (in the quad screening) and then go on to do a more invasive/higher risk test (CVS or amnio) and find all is normal.
The Panorama test may or may not cost you some money (for me, max out of pocket was under $300). To me, it was absolutely worth it. I would want to know sooner than later.
Also, my doctor recommended doing the fetal DNA test a bit after the 10 week mark (I did 10w4d), just to make sure there was enough fetal DNA present to get a good sample. He said sometimes people go right on the 10w mark, then wait two weeks only to be told that the test was inconclusive and they have to do it (and wait), again.
Also, the Panorama test will tell you the sex, if you want to know.
posted by vunder at 2:06 PM on April 30, 2015 [3 favorites]
I would do (in fact, I did) the fetal DNA test (a different brand, similar approach). It is much more precise. The chance of false negative is very very low. The chance of false "positive" is much lower than the quad screening. Many people test for an elevated risk (in the quad screening) and then go on to do a more invasive/higher risk test (CVS or amnio) and find all is normal.
The Panorama test may or may not cost you some money (for me, max out of pocket was under $300). To me, it was absolutely worth it. I would want to know sooner than later.
Also, my doctor recommended doing the fetal DNA test a bit after the 10 week mark (I did 10w4d), just to make sure there was enough fetal DNA present to get a good sample. He said sometimes people go right on the 10w mark, then wait two weeks only to be told that the test was inconclusive and they have to do it (and wait), again.
Also, the Panorama test will tell you the sex, if you want to know.
posted by vunder at 2:06 PM on April 30, 2015 [3 favorites]
I should also note, though, that the nuchal translucency scan, which is typically part of the integrated screen, is worth having even if you do the Panorama, as it can reveal anatomical abnormalities that are not genetic and wouldn't be revealed through NIPT (and much earlier than the second tri anatomy scan).
posted by devinemissk at 2:10 PM on April 30, 2015
posted by devinemissk at 2:10 PM on April 30, 2015
Make sure the people administering understand the test. Panorama was so new I think the doctor--a relatively young lady--didn't trust it, and insisted our third kid had Down's based on certain ultrasound indicators. She referred us to some "Genetic Counselor" to talk about it--a non-medical person who was less than useless--presumably to help us join the roughly 90% who'd "terminate" such a "pregnancy"? It's not 100% accurate, but the Panorama nearly conclusively ruled out Down's. If you're at all tempted to "terminate" your "pregnancy" based on the results of one of these screening methods, for the love of God at least get a second, third, fourth, etc., opinion.
posted by resurrexit at 2:26 PM on April 30, 2015
posted by resurrexit at 2:26 PM on April 30, 2015
Response by poster: Awesome info everyone! I know both doctors recommended the testing because my wife just turned 35, and this is our first child. As to whether insurance wants to cover the testing, well, that will be another adventure for us.
posted by slowtree at 2:34 PM on April 30, 2015
posted by slowtree at 2:34 PM on April 30, 2015
The evidence is starting to come in that the fetal DNA test (the Panorama) is MUCH more accurate that the combo of ultrasound and quad screen, although it's important to note that they still have a small false positive rate and so if you get positive results (i.e., it suggests a problem) it is not a definitive diagnosis. Speaking as someone who had a crap quad screen/ultrasound and then had to sweat it out until a totally normal amniocentesis with both my pregnancies, I wish the fetal DNA tests had been better validated back then! If it's covered by your insurance I'd definitely go with the Panorama.
posted by The Elusive Architeuthis at 3:02 PM on April 30, 2015 [2 favorites]
posted by The Elusive Architeuthis at 3:02 PM on April 30, 2015 [2 favorites]
I'm a doctor who's been pregnant twice in the past 3 years. In both cases I refused the quad screen and nuchal translucency study in favor of the much more accurate cell free DNA testing (I used Harmony and MaterniT21). My husband and I were willing to pay for them out of pocket if necessary, since I am under 35 and currently the tests are only recommended if you are "high risk" such as advanced maternal age.
To be blunt, the quad screen and NT scan are crappy tests looking at secondary markers. False positives happen far too frequently which require further testing to be done. The DNA tests look directly for the chromosomal abnormalities. We did not want to get a false positive quad/NT study because that is needless stress during an already stressful time, and then you're put in the position of being recommended for amniocentesis which is invasive and carries risk but is the "gold standard test".
in short, I feel certain it is only a matter of time before the DNA tests are recommended for all women. Feel free to MeMail me if you have other questions.
posted by treehorn+bunny at 3:17 PM on April 30, 2015 [12 favorites]
To be blunt, the quad screen and NT scan are crappy tests looking at secondary markers. False positives happen far too frequently which require further testing to be done. The DNA tests look directly for the chromosomal abnormalities. We did not want to get a false positive quad/NT study because that is needless stress during an already stressful time, and then you're put in the position of being recommended for amniocentesis which is invasive and carries risk but is the "gold standard test".
in short, I feel certain it is only a matter of time before the DNA tests are recommended for all women. Feel free to MeMail me if you have other questions.
posted by treehorn+bunny at 3:17 PM on April 30, 2015 [12 favorites]
regarding the NT scan issue thedevinemissk mentions, it's something you should discuss. As I mentioned the concern with doing both tests is that if you get a false positive NT study they will most likely recommend amniocentesis even if your Panorama test is normal (making the Panorama test not clinically useful unless you would decline amnio in that situation and hope the Panorama is good enough). As far as structural abnormalities go that you would see before the anatomy scan, the question is whether you would terminate for the abnormality you find, because there isn't likely to be any treatment for the problem you would find at that point anyway. If you're stymied by all this, I would recommend talking to a genetic counselor for further details and to figure out what the best option is. I also did that before both pregnancies despite no known genetic issues and I thought it was helpful.
posted by treehorn+bunny at 3:28 PM on April 30, 2015 [1 favorite]
posted by treehorn+bunny at 3:28 PM on April 30, 2015 [1 favorite]
To be blunt, the quad screen and NT scan are crappy tests looking at secondary markers. False positives happen far too frequently which require further testing to be done.
For this reason we elected to skip these tests altogether and have a CVS + microarray done (we did ours at 11wks, vs. amnio I believe you can't do until about 16wks).
Drawback of course is that CVS is hugely more invasive (and more expensive). But because we have various high-risk factors we didn't want to fool around with the possibility of false negatives/positives.
posted by vignettist at 3:57 PM on April 30, 2015 [2 favorites]
For this reason we elected to skip these tests altogether and have a CVS + microarray done (we did ours at 11wks, vs. amnio I believe you can't do until about 16wks).
Drawback of course is that CVS is hugely more invasive (and more expensive). But because we have various high-risk factors we didn't want to fool around with the possibility of false negatives/positives.
posted by vignettist at 3:57 PM on April 30, 2015 [2 favorites]
Totally agreeing with considering going straight to CVS if you are interested in definitive information from the start. NIPT, quad screen, sequential screen, etc are all non-diagnostic, highly limited in what they do assess for and will still necessitate a diagnostic procedure if the screening results indicate a possible fetal abnormality. Both false negatives and false negatives abound. Also Panorama and other NITP analyses are now adding microdeletion assessment and that PPV is even less than aneuploidies'.
NSGC fact sheet: http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results
Recent Boston Globe article on oversale of NIPT including false negatives
https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html#comments
posted by beaning at 5:21 PM on April 30, 2015
NSGC fact sheet: http://nsgc.org/page/abnormal-non-invasive-prenatal-testing-results
Recent Boston Globe article on oversale of NIPT including false negatives
https://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html#comments
posted by beaning at 5:21 PM on April 30, 2015
The CVS has a 1 in 100 chance of miscarriage. This stat is much much higher than the chance of a false negative in either set of genetic testing.
I find that Globe article really strangely alarmist. It asserts that a person would go directly to termination on a positive without moving on to the diagnostic test - anyone who would do this is not paying attention to what the test is about.
posted by vunder at 5:34 PM on April 30, 2015
I find that Globe article really strangely alarmist. It asserts that a person would go directly to termination on a positive without moving on to the diagnostic test - anyone who would do this is not paying attention to what the test is about.
posted by vunder at 5:34 PM on April 30, 2015
Any one who thinks pregnancies aren't being terminated solely on the basis of NIPT results hasn't been on the pregnant women's/moms boards, particularly in states with highly restrictive TOP laws. IME, the 1% risk of miscarriage with CVS is overstated, and highly dependent on operator's experience.
Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26. doi: 10.1002/uog.14636.
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
Akolekar R1, Beta J, Picciarelli G, Ogilvie C, D'Antonio F.
The weighted pooled procedure-related risks of miscarriage for amniocentesis and CVS were 0.11% (95% CI, -0.04 to 0.26%) and 0.22% (95% CI, -0.71 to 1.16%), respectively.
from AJOG http://www.ajog.org/article/S0002-9378%2814%2900818-7/pdfSummary
6.2% terminations without karyotype confirmation, and 16.0% lost to
follow-up.
posted by beaning at 6:25 PM on April 30, 2015 [1 favorite]
Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26. doi: 10.1002/uog.14636.
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
Akolekar R1, Beta J, Picciarelli G, Ogilvie C, D'Antonio F.
The weighted pooled procedure-related risks of miscarriage for amniocentesis and CVS were 0.11% (95% CI, -0.04 to 0.26%) and 0.22% (95% CI, -0.71 to 1.16%), respectively.
from AJOG http://www.ajog.org/article/S0002-9378%2814%2900818-7/pdfSummary
6.2% terminations without karyotype confirmation, and 16.0% lost to
follow-up.
posted by beaning at 6:25 PM on April 30, 2015 [1 favorite]
I did the panorama test a year and a half ago, at 9 weeks gestation. I was happy to have the test done so early in the pregnancy, and after doing a ton of research, I felt like it was the best option. I liked how there was zero risk of a miscarriage. I experienced such a relief at the results of the test that I was able to relax so much more the remainder Of the pregnancy-- it was my third child and I really stressed a lot with the first two pregnancies. Pamaorama had a set up where if you had insurance, any insurance they could bill, regardless of what your insurance actually ended up paying out, your maximum charge would be $250. it was well worth that price and I honestly would have been happy to pay more. I was 43 at time of testing, so of course I had some concerns about the pregnancy.
posted by Rapunzel1111 at 10:12 PM on April 30, 2015 [1 favorite]
posted by Rapunzel1111 at 10:12 PM on April 30, 2015 [1 favorite]
As mentioned above, both these tests are SCREENS, not definitive tests. They will give you a risk figure but not a black-and-white answer. But parenthood is not black-and-white so don't overthink it. Both tests are good and will pick up the vast majority of chromosomal anomalies.
NIPT is more sensitive and specific for chromosomal aneuploidies (essentially, Down syndrome, trisomy 13 and 18). It's not really there yet for microdeletions though I think the companies are offering it. That said, microdeletions are extremely rare compared to aneuploidies (and that's the reason the technology isn't great for them yet - because they haven't been validated on enough cases).
The advantage of the combined screen is that it can pick up things that NIPT isn't designed for - eg an enlarged nuchal due to a heart defect. Mind you those things would be picked up on the anatomy scan later in the pregnancy anyway.
I agree with treehorn+bunny that NIPT is going to be widespread, once it gets cheap enough.
posted by superfish at 12:08 AM on May 1, 2015 [2 favorites]
NIPT is more sensitive and specific for chromosomal aneuploidies (essentially, Down syndrome, trisomy 13 and 18). It's not really there yet for microdeletions though I think the companies are offering it. That said, microdeletions are extremely rare compared to aneuploidies (and that's the reason the technology isn't great for them yet - because they haven't been validated on enough cases).
The advantage of the combined screen is that it can pick up things that NIPT isn't designed for - eg an enlarged nuchal due to a heart defect. Mind you those things would be picked up on the anatomy scan later in the pregnancy anyway.
I agree with treehorn+bunny that NIPT is going to be widespread, once it gets cheap enough.
posted by superfish at 12:08 AM on May 1, 2015 [2 favorites]
I was 37 when I was pregnant with my first child. I didn't do any screening tests, went straight to CVS. I wanted to be as certain as I could (I don't do well with uncertainty). I did the same thing this time around. Since I was over 35, the insurance company didn't give me any problems about it. Fortunately, they didn't find any chromosome problems either time, and I didn't miscarry.
posted by Anne Neville at 5:56 AM on May 1, 2015
posted by Anne Neville at 5:56 AM on May 1, 2015
Congratulations!
You've gotten a ton of great, factual information above regarding the tests you're considering. I have nothing to add regarding the purpose & function of those tests. As someone who just delivered in December, I want to recommend that you also consider whether or not you would terminate the pregnancy based on the results of the testing.
I declined any form of NIPT as well as the NT because I'd already decided I wouldn't terminate based on results, and more or less anything the tests discovered would be something I couldn't change. If termination isn't something you'd consider, ask your healthcare provider what testing they still feel is necessary. On the other hand, one argument I've heard others make is that even if you're not going to terminate, discovering the presence of an abnormality early in the pregnancy would give you time to prepare for the challenges of raising a child with special needs. I didn't feel the same way; I felt it would make the rest of my pregnancy needlessly stressful.
I hope this isn't coming off as a subtle pro-life plug. I am staunchly pro-choice and spend both my money and time defending a woman's right to choose what happens to her own body. When it came to my body, however, these were the choices I made.
posted by pecanpies at 6:03 AM on May 1, 2015 [1 favorite]
You've gotten a ton of great, factual information above regarding the tests you're considering. I have nothing to add regarding the purpose & function of those tests. As someone who just delivered in December, I want to recommend that you also consider whether or not you would terminate the pregnancy based on the results of the testing.
I declined any form of NIPT as well as the NT because I'd already decided I wouldn't terminate based on results, and more or less anything the tests discovered would be something I couldn't change. If termination isn't something you'd consider, ask your healthcare provider what testing they still feel is necessary. On the other hand, one argument I've heard others make is that even if you're not going to terminate, discovering the presence of an abnormality early in the pregnancy would give you time to prepare for the challenges of raising a child with special needs. I didn't feel the same way; I felt it would make the rest of my pregnancy needlessly stressful.
I hope this isn't coming off as a subtle pro-life plug. I am staunchly pro-choice and spend both my money and time defending a woman's right to choose what happens to her own body. When it came to my body, however, these were the choices I made.
posted by pecanpies at 6:03 AM on May 1, 2015 [1 favorite]
I think pecanpies makes an excellent point about deciding now what you will do with the information if it doesn't go the way you expect it to.
Be aware, if you are going to talk with your doctor about what they recommend, they most likely will recommend everything anyway. My doctor was very explicit with me that for her own insurance purposes she needed to be able to document in my chart that we'd had the discussion and that she had recommended the testing. That way if we skipped the testing and then tried to sue her later for not advising us about risk factors she would be covered in terms of a charge of malpractice.
(That's one of the reasons why I love my doctor though, she tells it to me straight).
posted by vignettist at 7:49 AM on May 1, 2015 [1 favorite]
Be aware, if you are going to talk with your doctor about what they recommend, they most likely will recommend everything anyway. My doctor was very explicit with me that for her own insurance purposes she needed to be able to document in my chart that we'd had the discussion and that she had recommended the testing. That way if we skipped the testing and then tried to sue her later for not advising us about risk factors she would be covered in terms of a charge of malpractice.
(That's one of the reasons why I love my doctor though, she tells it to me straight).
posted by vignettist at 7:49 AM on May 1, 2015 [1 favorite]
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If you get a result that could make you consider an abortion at 11w v 16w v 20w, your options (or complete unavailability of abortion) differ by state.
posted by ellenaim at 1:49 PM on April 30, 2015 [1 favorite]