If you had genetic testing done while pregnant?

lpennie16

help me out here... I have a call in to my doctor's office, but haven't heard back yet. Due to the recent problems with DS (blindness and epilepsy) both caused by a stroke he had in utero, I want to get genetic testing done for baby #2.

What is involved? What exactly do they do?  Thanks!!

Oh, painful?

LynnInLove1007

A good friend of mine has an amnio with both her pregnancies. She said it was uncomfortable but not painful. Just pressure.

HTH.

AngeNAndy4106

I had the NT scan with bloodwork around 12 weeks. It involved an u/s to measure the nuchal folds of dd's neck and then a blood draw.  Then there was another blood draw approx. 1 week after the first.  Now that I see you are 14 wks along, I think you are too far along for that particular test b/c I believe it's usually done before 13 weeks.  Sorry I'm not more helpful!

AmyDrinkie

I had my quad panel, NT screening and genetic testing all done at one appt. ?They took 4 vials of blood and did a 45min ultrasound. ?Not painful except when they stuck me for the blood draw.

Heather R

I did NT and quad screens.  I was high risk, so no amnio.

JamieFL

We chose to go for genetic testing due to my husband's older sister having Down's Syndrome.  While we only wanted to know for preparation's sake, it was still nerve-wracking when you didn't know what to expect.

First, we had to meet with a genetics counselor who took our family history of "illnesses and conditions" down.  She also explained to us the different testing options that we had open to us if we chose to do an amnio or if we wanted other options that weren't as definite in results.  I remember her saying that unless we knew the exact genetic defect code that his sister had, we wouldn't get a clear answer unless we had the amnio performed.  I already knew in my head that that is the route that I wanted to take.  My one and only fear was the low risk to the baby during and after the procedure.

 After that appointment, they then scheduled our amnio.  Your nerves will get the better of you but I must say that it wasn't bad at all!  This won't mean anything to you unless you've done it, I'm sure.  I didn't look during the procedure but had my H for moral support.  I only remember slight discomfort/pressure when the needle was removed.  I didn't have any cramping afterwards but took the next day off of work to just relax.

The only miserable part was waiting 10 days for the result.  I just wanted everything to be ok...and it was, regardless of the outcome, I feel.  I'll be 35 soon so I just want to go straight for an amnio rather than do all of the other scans that are available. I think they recommend it for someone as old as me anyway!

I hope this helps you in some way.  Best of luck to you!

SBMBride406

I did an NT scan and quad screen. It was a 20 minute u/s and a finger stick. No pain.

Interestingly, we saw something during the u/s (notching in the uterine arteries) that they said "was probably nothing but can be an indicator for pre-e." We never thought about it again but I ended up nearly losing DS due to HELLP/pre-e. I will definately get the screening done again.

JamieFL

I should mention that I was about 17-18 weeks pregnant when the amnio was done.  Reading the other posts, I'd still ask to speak to a genetics counselor for them to even determine what test exists for you and your little #2. 

nictel

I actually had a separate appointment with a geneticist.  They reviewed our family's medical history and did a blood draw.  I have a family history of CAH and autism.  The family tree was a big part of it.

AmandaJane08

We did not do the NT scan or any of that, but then due to family history I had some testing done on me and when we found out that I have a Chromosome Translocation, we had an amnio done to make sure DS was ok. It wasn't as bad as I thought, just feels kind of like a bad cramp. Good Luck! Hope you get good news!

Amy Schramm

I had an amnio-- didn't really hurt, had very very mild cramping after. ?The whole procedure took like 15 minutes. ?Just make sure you go to a doctor who has done a ton of amnios. ?

liz606

I did CVS testing at 11 weeks.  In this testing, they sample a small piece of placenta and run a series of key genetic tests.  Depending on where the placenta is, they sample either through the vagina or thw stomach.  Mine was through the stomach. Very little pain and I had the results in 48 hours. I will do it again if we have another.

Bonus is that you find out the sex at that time, so we knew DD was a girl that early!

brandonsfuturewife07

i had the quad screen, just a big blood draw.  i would have had an amnio if any markers showed up, but none did.