https://boards.hellobee.com/ Pregnancy, Baby and Parenting blog, by Hellobee en Mon, 06 Apr 2026 16:10:16 +0000 https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533730 Mon, 25 Apr 2016 15:37:38 +0000 Shantuck 2533730@https://boards.hellobee.com/ <p>@Goldengirl: I was told to call the genetic counselor's office and they would tell me when they wanted to see me. When I called, I was told the earliest they would want to see me for the Maternit21 test was 10 weeks and 4 days but I wasn't able to get in until the next day. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533602 Mon, 25 Apr 2016 13:36:54 +0000 Goldengirl 2533602@https://boards.hellobee.com/ <p>@Torchwood: @jaguar: @delight: Thanks for the info! I am 10 weeks 1 day now so I guess it's safe to go but I feel nervous to do it too early. Might wait a few more days. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533132 Sun, 24 Apr 2016 17:26:53 +0000 delight 2533132@https://boards.hellobee.com/ <p>@Goldengirl: I did mine at exactly 10 weeks. I was worried about receiving inconclusive results but it was fine. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533131 Sun, 24 Apr 2016 17:19:32 +0000 jaguar 2533131@https://boards.hellobee.com/ <p>@Goldengirl: What @Torchwood: said. =) I was told that being a bit heavier, it was better to wait a little bit to make sure that there was enough foetal DNA in the sample, so I did mine at 12 weeks. Friends have needed it re-done. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533118 Sun, 24 Apr 2016 16:04:16 +0000 Torchwood 2533118@https://boards.hellobee.com/ <p>@Goldengirl: I believe if it's too early, the results will just be inconclusive and it has to be redone. We did ours as early as possible (history of issues so I needed peace of mind NOW), but I also knew my dates for absolute certain. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2533036 Sun, 24 Apr 2016 11:04:51 +0000 Goldengirl 2533036@https://boards.hellobee.com/ <p>Question for those who have done NIPT... when precisely did you take the test? I was told you can do it at 10 weeks, but since gestation dates aren't always 100% accurate, is it a good idea to wait a bit longer past the 10-week mark? If it's too early, can the results be tainted? </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2520141 Fri, 08 Apr 2016 18:20:48 +0000 jaguar 2520141@https://boards.hellobee.com/ <p>I think a lot of it depends on your history, you know?</p> <p>With DD, it was before the NIPT became available in Australia, so I did the NT/combined bloods. She came back high risk and I spent the rest of that pregnancy terrified (because I refused an amnio due to m/c risk) - but she was fine.</p> <p>Then we lost our second baby, and genetic testing showed T21 - so any pregnancies that made it after that, we automatically qualified for NIPT. We lost the next two afterwards again (too early for a 'reason' but highly likely due to dodgy embryos/chromosome issues too).</p> <p>I'm 13 weeks and awaiting NIPT results this time around. We skipped NT completely (did a 12 week ultrasound anyway though) because the NIPT results are supposedly higher accuracy anyway. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do/page/2#post-2520101 Fri, 08 Apr 2016 16:56:44 +0000 delight 2520101@https://boards.hellobee.com/ <p>@agold: just thought I'd share my experience with genetic counselling. </p> <p>After we screened positive on the IPS screening, we were immediately set up with a genetic counsellor. Then she helped us decide if we wanted to do an amnio or the NIPT. She also went over everything about Edward's Syndrome which we had received a 1/17 risk factor for. After our NIPT was positive for Turner's she walked us through the next steps (amnio or doing nothing) and helped set us up with families who had children with TS and made all our hospital appointments and ultrasounds with us. We would have been lost without her. Now that I'm in a new pregnancy, she answers any questions or concerns and is a good person just to talk to when I'm worried. She has set up my ultrasounds and NIPT. I feel like I've had awesome care. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519856 Fri, 08 Apr 2016 13:00:25 +0000 agold 2519856@https://boards.hellobee.com/ <p>@Ms.Badger: Thanks for all of this info! </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519855 Fri, 08 Apr 2016 12:58:18 +0000 Ms.Badger 2519855@https://boards.hellobee.com/ <p>@agold: I think that if you are not completely clear what the results mean (exactly which conditions were tested for and ruled out, etc) then you should set-up a call. The tests have a very low false negative rate, so there is a very small chance that your baby has the conditions tested for, but there are many things not tested for which could still be identifed during ultrasounds or after birth. If you know exactly what the test means for you and your baby, then you can skip it </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519824 Fri, 08 Apr 2016 12:43:12 +0000 agold 2519824@https://boards.hellobee.com/ <p>@Ms.Badger: Thanks for that info. The genetic company that processed my test, Recombine, called me a few times about setting up a phone call to discuss the results. But my results were okay and I didn't feel it was worth the call. Should I reconsider? Do you think there is something that I could be missing? </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519789 Fri, 08 Apr 2016 12:30:16 +0000 Ms.Badger 2519789@https://boards.hellobee.com/ <p>@agold: Genetic counseling is a profession requiring a MS in genetic counseling (also proper genetic counseling can be provided by a MD geneticist of course). They are employed both by commercial testing companies and by clinics. Those employed by genetic testing companies, in my experience, do not speak to patients directly, only with clinicians, while those employed by clinics do work directly with patients. </p> <p>I don't know the standard for care for NIPT, but for all other genetic testing that I'm aware of, counseling by a genetic counselor or geneticist is required for all those who undergo genetic testing prior to testing and after receiving results. While for some individuals this may seem like overkill, the fact that 6% of women with abnormal NIPT results aborted without an amnio indicates that these women may not have had sufficient information about the nature of this test (screen vs. diagnostic). The majority of OB-GYNs do not have specialized genetics training. </p> <p>If I had a friend who received NIPT results and was unclear of their meaning, I would find them a genetic counselor pronto.<br /> From the NSGC website <a href="http://nsgc.org/page/non-invasive-prenatal-testing-healthcare-providers" rel="nofollow">http://nsgc.org/page/non-invasive-prenatal-testing-healthcare-providers</a>:<br /> How can I find a genetic counselor?</p> <p>Genetic counselors are health care professionals with specialized training in cfDNA screening and the psychosocial complexities surrounding genetic testing and screening. They can help your patient understand their options and facilitate a decision about testing. A genetic counselor can be located using the “Find a Genetic Counselor” link on the nsgc.org website. You can also find more information about individual genetic conditions and national advocacy organizations for these conditions at <a href="http://www.lettercase.org/prenataltesting/" rel="nofollow">http://www.lettercase.org/prenataltesting/</a>.</p> <p>Edited to add link including position of ACOG:<br /> <a href="http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy" rel="nofollow">http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy</a> </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519768 Fri, 08 Apr 2016 12:14:49 +0000 agold 2519768@https://boards.hellobee.com/ <p>@Ms.Badger: When you say "genetic counseling" do you mean talking with someone from the testing company after you receive your test results? And do you suggest doing that if the test results came back no/low risk for what was being tested? </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519715 Fri, 08 Apr 2016 11:26:11 +0000 travellingbee 2519715@https://boards.hellobee.com/ <p>We did the FTS and NIPT based on the Rec of my doctor. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519712 Fri, 08 Apr 2016 11:23:55 +0000 Goldengirl 2519712@https://boards.hellobee.com/ <p>@JenGirl: thanks for all the info! The price is not prohibitive for us so I'm trying to decide as if all options are equal in terms of cost. We're OK paying out of pocket if it's the best option. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519710 Fri, 08 Apr 2016 11:22:29 +0000 Goldengirl 2519710@https://boards.hellobee.com/ <p>@Ms.Badger: wow thanks for all the resources, will check them out! </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519708 Fri, 08 Apr 2016 11:18:46 +0000 JenGirl 2519708@https://boards.hellobee.com/ <p>Great question! I work in an adjacent branch of medicine, so I hear a lot about prenatal screening. I agree that FTS or NIPT/NIPS makes more sense than IPS/MSS/quad screens/etc.</p> <p>The most important thing to realize is that these are ALL screening tests, not diagnostic tests. They all have false positives and false negatives and any positive result should be followed up with diagnostic testing through amnio or testing after birth.</p> <p>The benefit of FTS is that it can be more likely to be covered by insurance (though not always). Plus the nuchal (NT) measurement screens for more than just chromosome disorders. </p> <p>The benefit of NIPT/NIPS is that it has a higher detection rate for chromosome disorders than any other type of screening. That means that getting a negative result will be more reasurring. HOWEVER, in low risk women (young women without known chromosome issues) NIPT/NIPS can have a low positive predictive value, which basically means that if you're low risk and you get a positive result, there's a good chance it's a false positive, especially depending on which chromosome disorder your NIPT/NIPS is positive for. That's why you have to follow up with diagnostic testing.</p> <p>For me, I am very familiar with the risk of a false positive and was confident that I wouldn't freak out if I got a false positive. I actually ran my personal risk figures (based on my age, gestational age, and the lab's reported sensitivity/specificity) prior to doing the testing. At 32 years old and 10 weeks pregnant my positive predictive value for Down syndrome was 62%, for Trisomy 18 was 20% and for Trisomy 13 was 24%. So I knew that a negative was very reassuring, but a positive had a good chance of being false, so if I got a positive, I'd just consider it an indeterminate result until I could get an amnio. Luckily my NIPT/NIPS was normal, so I didn't have to do any follow up and had some peace of mind for the rest of the pregnancy. </p> <p>Also, it might be worth contacting the NIPS/NIPT lab and seeing if they have any price breaks for women whose insurance doesn't cover testing, many do. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519679 Fri, 08 Apr 2016 10:59:20 +0000 Ms.Badger 2519679@https://boards.hellobee.com/ <p>@hilsy85: Here are some links with different levels of information. I work as a scientist in genetic testing (not cell-free tests) and I think genetic testing is great, however, it is just a screen and all women who get genetic testing should have genetic counseling to that effect.</p> <p>This research article finds very low false positive rates for Trisomy 21 and 18 (cannot compare 13 because only used as follow-up test): <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1311037#t=articleTop" rel="nofollow">http://www.nejm.org/doi/full/10.1056/NEJMoa1311037#t=articleTop</a></p> <p>However, this article gets into what a low predictive value means despite low false positive rate showing that the false positive % is not a good measure when the condition has a very low risk of occuring (in younger population)<br /> <a href="http://www.nejm.org/doi/full/10.1056/NEJMoa1408408?query=featured_home#t=article" rel="nofollow">http://www.nejm.org/doi/full/10.1056/NEJMoa1408408?query=featured_home#t=article</a></p> <p>Here's the Society for Materal Fetal Medicine says:<br /> <a href="https://www.smfm.org/publications/183-cell-free-dna-screening-is-not-a-simple-blood-test" rel="nofollow">https://www.smfm.org/publications/183-cell-free-dna-screening-is-not-a-simple-blood-test</a></p> <p>Here's the Boston Globe's take (<a href="http://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html" rel="nofollow">http://www.bostonglobe.com/metro/2014/12/14/oversold-and-unregulated-flawed-prenatal-tests-leading-abortions-healthy-fetuses/aKFAOCP5N0Kr8S1HirL7EN/story.html</a>)</p> <p>which includes this terrifying (to me) sentence: "A recent study by another California-based testing company, Natera Inc., which offers a screen called Panorama, found that 6.2 percent of women who received test results showing their fetus at high risk for a chromosomal condition terminated pregnancies without getting a diagnostic test such as an amniocentesis."</p> <p>Again, I love genetic testing but it is not a panacea and should be marketed and counciled correctly. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519577 Fri, 08 Apr 2016 09:46:10 +0000 Goldengirl 2519577@https://boards.hellobee.com/ <p>@catlady: I am typically the same... more info than less. I think if we are able to get the test and if my doctor is OK with it, I will go that route. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519567 Fri, 08 Apr 2016 09:39:50 +0000 catlady 2519567@https://boards.hellobee.com/ <p>With LO, we did the NT scan and some basic bloodwork. I asked about NIPT but they wouldn't even do it for me (I was 32). With my last pregnancy, I was offered NT scan plus Materniti21 due to my age. If we had not lost that pregnancy, I would have done it. I plan to for the next pregnancy and follow up with an amnio if any potential issues are found. My DH and I prefer more information rather than less. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519527 Fri, 08 Apr 2016 09:05:50 +0000 ShootingStar 2519527@https://boards.hellobee.com/ <p>@Goldengirl: I did MaterniT21 and Panorama. I liked that MT21's odds went as low as 40,000:1. Panorama I was able to do earlier (though some people have mixed results) and the results came back as 10,000:1, which is their lowest. Oh and I didn't have to pay because I was over 35 both times. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519511 Fri, 08 Apr 2016 08:53:48 +0000 T.H.O.U. 2519511@https://boards.hellobee.com/ <p>We did the NT scan + bloodwork. Yes there is a chance they miss something but coupled with that and the 2nd trimester Anatomy Scan, we felt pretty comfortable. I wasn't willing to pay that much out of pocket. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519502 Fri, 08 Apr 2016 08:47:54 +0000 Goldengirl 2519502@https://boards.hellobee.com/ <p>@ShootingStar: thanks! Glad to hear you were happy with it. Which test did you do and did you have to pay? </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519480 Fri, 08 Apr 2016 08:26:31 +0000 ShootingStar 2519480@https://boards.hellobee.com/ <p>With both of my pregnancies I did the NT scan and the NIPT blood work. And in both cases, I was very happy I did the NIPT. Both times I've had a questionable finding show up on an ultrasound, but the blood test allayed my fears. It's also awesome finding out what you're having at 10 weeks :). </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519463 Fri, 08 Apr 2016 08:17:45 +0000 hilsy85 2519463@https://boards.hellobee.com/ <p>@QBbride: @Ms.Badger: where are you finding out about false positive rates for these tests? I remember looking it up when we had it done and it was less than 5% I think... </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519456 Fri, 08 Apr 2016 08:11:47 +0000 Goldengirl 2519456@https://boards.hellobee.com/ <p>@QBbride: Interesting. I guess it's different in different locations, because both my FPS and IPS options include the nuchal scan. So I think no matter what I will get that scan. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519451 Fri, 08 Apr 2016 08:09:22 +0000 Goldengirl 2519451@https://boards.hellobee.com/ <p>@Ifyoulikepinacoladas: I'm so sorry for your losses and can understand why you'd want that peace of mind. I'll be thinking good thoughts for you! </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519285 Thu, 07 Apr 2016 23:44:51 +0000 QBbride 2519285@https://boards.hellobee.com/ <p>With my first I didn't do any screening. I was too worried about the high false positive rate with IPS. </p> <p>With my second I did the NIPT but only because I was part of a study and it was 100% covered. </p> <p>Where I'm from, there aren't many ultrasound techs who are trained to do the NT u/s (even though I live in a big city) and it is expensive for the government, so it is only covered if you're high risk or over 35. Otherwise you just qualify for IPS and there are way too many false positives for my liking. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519266 Thu, 07 Apr 2016 22:39:10 +0000 Ifyoulikepinacoladas 2519266@https://boards.hellobee.com/ <p>@Goldengirl: After 4 MC's, one of which was positive for Turner's, I went for the Verifi NIPT with my last (healthy) pregnancy in conjunction with the nuchal scan. Getting that peace of mind when the results came back with the lowest possible odds was worth every cent out of pocket. I'm currently 7 weeks pregnant, and if I make it to 10 weeks I'll do it again in a heartbeat. </p> https://boards.hellobee.com/topic/screening-tests-nipt-what-did-you-do#post-2519218 Thu, 07 Apr 2016 21:16:52 +0000 sapphire 2519218@https://boards.hellobee.com/ <p>I did the sequential screen (IPS). I had results back by 16 weeks. No risk factors so would not have paid out of pocket for free fetal DNA. I liked the extra accuracy of sequential with not that much longer of a wait. </p>