Genetic testing

Melissa72777 · August 2013

Hi ladies, I haven't been on this board in a bit and have been lingering in my birth month board. However, I am now back with questions related to us over 35 ladies. Have any of you undergone or will be undergoing genetic testing? I have an appt with a genetic counselor set for August 27th and at that time will likely have the Mat21 test done. My gyno/OB only discussed blood tests then potential amino or CVS with me however I'm now reading about something called an NT ultrasound. I'm probably the only person who doesn't know what that is so can anyone fill me in? I am going for an OB appt on Thursday so I'm sure I can discuss it with him Thursday but I figured I'd try to get as much info as possible before I go so I know what kind of questions to ask. Anyone willing to share their experiences and/or knowledge of genetic testing would be greatly appreciated! Thank you :-)

happyturtle03 · August 2013

I had the Maternity 21 test last Friday, but haven't gotten results back yet. My songrams were all good and the Perinatologist said she didn't see anything that worried her at all, baby looks great so far. We went ahead and had the test mainly because I'm 40 (soon to be 41) and we just wanted to be prepared if there was anything to be aware of. This is my first experience with testing, and it's been a little overwhelming!

EmR22 · August 2013

The NT scan measures the fluid thickness at the back of the neck of the LO. A thicker layer of fluid is correlated with a higher risk of chromosomal abnormalities. It's just a regular ultrasound. I had that as well as a blood test to measure levels. Those two combined gave me a "score" of how much risk I was at. Because mine was low I did not have any further testing done. If it had been high I would have proceeded with the Mat21 testing.

I did meet with the genetic counselor and it was very informative but very scary. Remember it's their job to tell you about all the possible bad things. It was kind of overwhelming and easy to get more scared.

jbelle · August 2013

The NT Scan (https://en.wikipedia.org/wiki/Nuchal_scan) is part of the first trimester screening.

LucyRicardo3 · August 2013

The NT scan must be performed within the 11th-13th week of pregnancy for most accuracy. So don't wait too long to discuss it with your OB.
It is also typically combined with a maternal blood draw or two. I've had the NT scan and my first blood draw since it is standard with my OB's office for anyone over 30. The second blood work will be drawn around 16 weeks.
I am hoping to have one of the newer blood tests drawn soon. Harmony, Mat21, Verifi, & Panorama are different brand names of similar tests. The name depends upon the lab reading the results, basically. These tests have recently become available so some insurance companies and OB's are not very familiar with them.
Good luck!

Melissa72777 · August 2013

Yeah I will be 10 weeks 4 days when I see my doc on Thursday so I will be discussing the NT ultrasound then. I am also scheduled for the genetic testing on August 27th. So hopefully I'll be on track.

RNmommyof2 · August 2013

I had the NT done, but baby was measuring so big that they couldn't correlate the scan results with the blood test results. I also had the Harmony test done (everything looked great there) and my anatomy scan went well too.

Supergirl2013 · August 2013

I had a genetic test called the quad and afterwards i had an amnio done. Baby is doing just fine.

tfkre8ive · August 2013

My OB now offers MaterniT21 in place of the NT because it is 99 per cent accurate. The NT scan plus it's associated bloodwork gives a ratio of the likelyhood that there are problems and is more like 75 per cent accurate. I had the Mat21 at 11 weeks. Took 12 business days to get the results back.

ScorpioMum · August 2013

I declined all testing and refused to see a Perinatologist. My 20 week anatomy scan was fine. This is my 5th baby and I declined all the testing with the others as well. The results wouldn't change what I'm going to do with the pregnancy so I figure the less stress the better for me & baby.

[Deleted User] · August 2013

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emfolstad · August 2013

I met with a genetic counselor and thought it was very informative. For whatever reason, I didn't get freaked out by it. We had the ultrasound done and all looked good and then we had the harmony testing done, basically because it was the most accurate and was covered by my insurance. That test actually picks up on the babies' DNA in your blood. The results from that looked good too so we didn't go any further with the testing. She's 6 months old now and all is good!

happyturtle03 · August 2013

Oh, and yes, I also had NT scan, which was normal, but we went ahead with the Mat21 just to be extra cautious. It wouldn't change how we feel about our baby, but in the event there is anything to be aware of, babies with genetic disorders often require a lot of immediate specialized care and we don't want to walk blindly into that situation, so we just want to know if that would be what we'd be dealing with. I got sent to the Perinatologist in the first place though because of the many health issues I have, which are under control, but could become a problem at any time and certainly need to be monitored. I like having the extra care and finding out more than the normal info with the regular OB, but I'm that kind of person who wants to know and be in charge of the situation. Whatever it is, I can deal with it however it needs to be handled, but I can't deal with not knowing or leaving it to chance. That's just me though. Sometimes I really envy people who can assume everything is fine until they are told otherwise. *sigh*

sporklemotion · August 2013

I had Mat 21 and NT, but the NT didn't add anything because most, if not all, of what it shows overlaps with the Mat21, and Mat21 is more accurate. They did it more to get a baseline in case things changed at the U/S and also to reassure me that there was still a heartbeat (I am PGAL and very nervous overall). It helped me relax during the wait for results, too. In my case, while I went into the appointment with the idea of what I would do, the genetic counselor walked us through everything beforehand and we made the decision that day. She took a more detailed history before making suggestions about what to do. Depending on how far along you are, you may be able to make the final decision at the Aug. 27 appointment. You may also want to call your insurance to see if that may change things-- some plans don't cover Mat21 but will cover NT along with the quad screening (another blood test). We opted for Mat21 regardless because NT+ quad screening use age as a big factor in determining probabilities, and at 41 I worried that the # wouldn't be as reassuring. We were prepared to pay OOP for the Mat21, though we haven't been billed for it.

strawberrymom2 · August 2013

I had Mat21 and not the nt test because they factor in age as part of the %, so it can artificially inflate your risk factor, and it is not as accurate.

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