Genetic testing

moewhit25

For those of you that have opted for early genetic testing please share your experiences. I am concerned because although the NT measurements were well within range apparently my bloodwork came back for high risk for Downs Syn. Based on my age 42 and whatever markers were in my bloodwork I have a 1 in 41 chance. The norm for my age group is 1 in 45. My OB suggested an aminocentesis but I don't want to jeopardize the pregnancy. She then suggested the materniti21 test which I will have done on Monday. I'm nervous and have started to think about how different things could turn out. Whatever the results it won't change anything but I'm so concerned now....

Anne72

Moe, I'm praying for you and hope it all works out well. Please do keep us informed on your choices and how it works out. I'm 40 and also struggling with the choice if I will do amnio or not. I wouldn't terminate based on Down's but it would likely make my child-care choices a lot different.

mary313

Moe-- 1 in 41 v 1 in 45 seems right close to the norm for age....??? Would you terminate if downs?? If not, given the pretty close to normal for age risk numbers, you maybe could wait until 2nd trim bloodwork and then do the other test (can't remember but the non amino one) if the risk percentages increased greatly?? If you wouldn't terminate, you could find out all about the local downs resources available if you needed and not risk the pregnancy.... ?? Whichever way you go--- it will be what you feel best for you and baby... Xoxo

moewhit25

moewhit25

roby72

I did CVS (corionic villi sampling) at 12 weeks. It was a little painful (they went through the skin because my placenta was anterior), but very very fast. baby was in perfect position, doctor was fantastic and it was super fast. Got my results 1 week later...all the genetic tests possible and the sex of the baby were known at 13 weeks of pregnancy. There are a lot of false positive regarding the nucal translucency test, and because of my age (39 at that time) I opted for CVS and it was a HUGE relief to know that everything was perfect...I could enjoy the pregnancy and the birth of my baby without worrying about!!! You can still do amnio if you are worried. Overall your 20 week anatomy scan will be absolutely able to tell if your baby has down syndrome or not. All the best for you...take care and always think positive

hopefulchar

Millaportman

moewhit25

moewhit25

My Maternati21 test came back NEGATIVE!!! Took less than a week to get the results. So thrilled!! Thanks for the positive thoughts ladies :-)

Anne72

mary313

Moe - wonderful news! So happy to hear that! I thought it would be fine given you were right in normal range for your age, but sooooo glad you have it confirmed and don't have to worry about that the rest of the pregnancy! (one less thing is always good...!) Did it also tell gender?

moewhit25

sine4me

Congrats Moe, thats great news!

robin

Millaportman

Anne72

Anne72

Well, had my blood drawn today. I have the genetic counselling session on 17 September. Prayers appreciated but I'm staying positive

Anne72

Got the Fragile X and Harmony21 results yesterday afternoon. Everything is good! Yay! One less thing to stress about. My next appointment with the OB is this afternoon.

moewhit25

Millaportman

That's fantastic, Anne! Congratulations on the positive news!

sine4me

Congrats Anne, great news!!

redolfin26

the materniti21 test should give you some more info to help you with your decision. it comes down to numbers. when you get the risk assessment from the test you need to decide if you are comfortable with that number. for some people, 1:41 is good odds because they hope that are one of the 40, not the one. for some a risk of 1:5000 is not good because what if they were the one...all depends on what you would do with the results. if you decided to do the amniocentesis would you be having your reg OB do it or a high risk dr do it? one should weigh the risks of the procedure (fairly low) to the risk of having a baby with a problem and what that means to them..its a personal decision, if you were on the fence, to the materniti 21..see how it goes, get a consult at a high risk OB office and ask for an early Level II...they can do a screening for any structural abnormalities that might put you at a higher risk of a problem, or give you some piece of mind//good luck with everything,im sure this is not easy!

maria2

Awesome news!!!