Anyone gone through genetics counseling yet?

Question

I just had my genetics appointment yesterday and they went over the various statistics and tests that can be done.  It all scared the crap out of me but I’m trying not to get too overwhelmed.  I’m 38, so when I heard the Down syndrome stats, I cried.  I’m taking it one day at a time and starting with the NIPT test but I’m waiting for a prior authorization to get submitted to my insurance before I can even schedule it!  It’s all giving me anxiety and I just want this first part done so I can move forward and see if I need to opt for the scarier tests such as CVS or amniocentesis.  Anyone want to vent along with me or share their experiences?

Answer

I’m 39 and pregnant with my third. It is their job to present you with all possibilities/options for available tests but know that the majority of pregnancies that have a heartbeat at 8 weeks (even at our age) are normal and those that aren’t will often miscarry. Don’t hesitate to ask the geneticist questions. I would start with the NIPT (blood) and nuchal test (ultrasound). I have had a CVS with this pregnancy and my last due (no NIPT available with the last one and this one had a vanishing twin which could possibly return false results). The procedure is not pleasant but it is quick and I had no issues either time. Good luck and try to relax (I know it’s hard). Women our age and older have healthy babies all the time!

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Here's something to consider: the average risk for down syndrome for a woman your age is 1/171. That is less than 0,6%. That's still pretty low in my book 😉

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The chances of something being wrong based solely on your age are still quite low. I am currently nursing my first baby, conceived when I was 38, born at 39. I’m sure he’ll turn out to be imperfect, like all kids, but other than being terrible at sleeping and breastfeeding, he’s pretty perfect so far. Don’t worry too much unless you need to. My great grandmas had babies at 46 with no health problems.

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dont cry. got 1st baby for my 38th birthday. she is normal as can be for a rambunctious toddler

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They sat us down to go over all the stats at high risk dr at 14 weeks or so, scared me terribly. Then we did bloodwork which showed my babies chance of downs and trisomy WAY lower than the statistics say. At 18 weeks in anatomy scan they found everything they wanted to see and we’ve ruled those issues out as much as possible without doing invasive testing. Hubby and I probably wouldn’t go through with amnio or anything anyway, no matter what they could have told us I was determined to see the pregnancy through however it should turn out. My last pregnancy resulted in mc and I can’t imagine ever choosing to terminate unless the diagnosis was something that would cause suffering to the baby.

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How far along are you? They can also do a Nuchal Translucency Screening but I think it has to be done between 11-13 weeks. Did you talk to a genetic counselor? They can go over your family history and help you decide if the more invasive tests are necessary.

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Hang in there. Recently I was told there is extra fluid?  Soon I'll be doing the genetic testing too. I have heard that these results are more common than you think for those over 38 but people said their children came out fine. I wish you the best. When in doubt check other test options before those that are more harmful.

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So a quick update: Today I had my blood drawn today for the NIPT and also a genetic carrier test (Inheritest).  I’m crossing my fingers for reassuring results but I’m choosing to think of the positive side of things which is in one week from today I should get to find out if this little bundle of joy is a girl or boy!  I’ll figure out the rest after that! Thanks for the great advice everyone!  Here’s hoping all our babies are healthy 🤞🏻

Answer

Honestly, I’d do NIPT (your blood drawn) over nuchal etc because it’s much more accurate.  Many of the companies have cash pay options (I’ve paid $200-350) for my previous 2 kids and expect to pay about $200 (I’m pregnant with my 3rd).  For me, it isn’t about worrying something is wrong (I’ll be 37 when this baby is born) but for being able to plan ahead.  Certain genetic disorders come along with other problems that I want to be prepared to face (and in the right setting with the appropriate NICU if needed).  The problem with pregnancy (and kids in general) is that you will always find something to worry about!  Come up with a coping strategy and remind yourself that you are doing your best for your baby.  That’s all you can do!

Answer

I’m 39 and 23+2. We did the NT but opted to skip the NIPT. I wouldn’t recommend that choice to everyone. I went that route because I have a mutation in the sex gene which we were concerned about and the NIPT can’t tell the difference between which of those genes are mine and which are baby’s so we already knew we were going to be doing a diagnostic test thus doing a screening didn’t seem important. 
For us, the big question was CVS or Amnio or both. CVS comes with a +2% chance of miscarriage. My mutation has a baseline chance of 60% mc, so I wasn’t looking to add to that. The other thing that made us decide against the CVS is my weight. Turns out it’s less successful among plus sized gals (yay) and if they were unsuccessful we’d be getting an amnio anyway. The amnio has a much lower (<1%) mc rate and my weight wouldn’t impact the success of the retrieval. 
The absolute hardest part of that choice was the long wait for test and results—we didn’t get the ‘all clear’ until 21 weeks. 
If you’re a worrier, I’m not sure the NIPT will be a good option. They’ll be able to tell you no, but they won’t be able to tell you “yes” for certain on anything. If your screening shows an increased risk you’ll have to wait for the diagnostic tests anyway. 
CVS vs Amnio I’d say is probably a toss up if you’re not already at an elevated mc risk and are of average size. Though, if you’re large end of average I’d consult with your counselor or dr about where your weight falls in the success range. The advantage to the cvs is you know much sooner. (Also, don’t do it before 14 weeks—there are other possible complications that can arise if done too early).

Anyone gone through genetics counseling yet?

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