abnormal triple screen

[myk]

my triple screen came back with "increased risk of down syndrome". i'm not freaked out by it, but i have an appointment with genetics tomorrow.. what should i ask? if anyone else has gone through this, what do you wish you knew? any suggestions?

[MaerynPearl]

did they tell you what the exact number is?

Ive seen women post here that they had supposedly increased risk... but it was still lower than anything worth worrying about.

[MPsSweetie]

I had a genetics counseling appt about a month ago and they ask everything. They take your and your dhs entire family history, then explain what your test results mean, and what your baby may be like if something is wrong. I don't really think we had to ask anything she was so thorough.

My risk was 1-31 for Down syndrome
and 1-76 for trisomy 18. My amnio came back normal and healthy!

[MyFullHouse]

Our GC was really great, even if taking our history brought up about a dozen other things she classified as "things we might want to check out".

My Down's had come back fine, but we were given 1:<5 chance of Trisomy 18/13. That was pretty dang scary!!!! We chose to do CVS testing, and everything came back fine.

[Baby~Braatens~Mama]

Just wanted to through some your way and wish you the very best of luck at your appointment tomarrow.

[myk]

thanks my husband can't come to the appointment tomorrow. i'll have to ask him if there's anything in his family history whatsoever that would be noteworthy - is it mostly chromosomal defects, neural tube defects that they ask about or is it other stuff too?

i know with me part of it is simply my age -36- but i also take a number of medications.

[MyFullHouse]

Originally Posted by myk

thanks my husband can't come to the appointment tomorrow. i'll have to ask him if there's anything in his family history whatsoever that would be noteworthy - is it mostly chromosomal defects, neural tube defects that they ask about or is it other stuff too?

i know with me part of it is simply my age -36- but i also take a number of medications.

We were asked about our ENTIRE genetic, general health, and geographic history. That's how I found out French Canucks can carry Tay-Sachs. Extra interesting b/c ds's father's ancestors were Russian Jews. That was never mentioned to me before.

We chose to stick with JUST the chromosome testing for the Trisomies, but it was an interesting meeting that kind of makes one wonder how anyone has a "normal" baby! So take it all with as many grains of salt as you can manage!

[lillymonster]

Originally Posted by myk

thanks my husband can't come to the appointment tomorrow. i'll have to ask him if there's anything in his family history whatsoever that would be noteworthy - is it mostly chromosomal defects, neural tube defects that they ask about or is it other stuff too?

i know with me part of it is simply my age -36- but i also take a number of medications.

They ask about everything - age at death, # of brothers and sisters, nationality, everything going back a few generations. Unfortunately DH couldn't come and I have no info on his family and no info on my dad's family except that he was the only one to make it past a few weeks old and he was sick as a child. They took all the information and then she said, "well it doesn't really matter anyway, it's just the genes" I was a little confused.

You can ask if there is no cases of downs syndrome in your family if you are still at risk. There were a large number of woman in my family that gave birth past the age of 40, from the early 1900s onward, so I feel a little better with that family history.

I would ask for numbers, because they say just being 36 is an increased risk, but I am 40 (I was 37 with my first), so I was told even though my numbers were better than the general risk, I am still considered "high risk" and the only accurate information is from an amnio.

[myk]

well, they actually did a quad screen instead of triple screen.. same thing but apparently a bit more accurate for certain things. so i met the genetic counselor who was VERY nice, and we had a great conversation. just asked info about our family histories with regards to any known genetic defects, general health, etc.

and then i went for a fetal assessment because based on the screen, my risk of down syndrome specifically was double what it normally would be for my age group. no problemo, i said.

and then they found some other markers for down syndrome, and they estimated a 1 in 20 chance of having an affected child. so i'm an emotional basket case right now. on the one hand, i'm terrified of losing a child from amniocentesis complications. on the other hand, i'm driving myself (and everyone around me) insane with the not knowing.

so i think i'll go for the amnio. hope it's good news.

[EllisH]

Hi,

I am sorry to hear about this. Just want to let you know that the amnio risk has lowered considerably over the past few years, but this hasn't been reflected in the stats. (My husband looked into this, so I don't have the links to data). I'd strongly advise to get the amnio, because if you are this stressed about it, that will not be good for the baby (a bit of stress is OK, but you don't want it for the rest of your pregnancy). Ask for an experienced practitioner, that is the key to not getting complications.

With 1 in 20 the odds are still very much in your favour - focus on those 19 healthy babies, one of which may very well be yours!

[myk]

thanks i've booked it for monday. i think it's the right decision, i'm not eating because of the stress. which isn't good. i need to have an answer and do my best to take care of myself.

[asobakabosa]

so how was your test? is everythin fine?

[myk]

everything's great! she's a very healthy little girl, absolutely perfect thanks for asking!