Markers for Ds during 20wk scan

[xsara_d]

Hi everyone, just wanted to get some feedback regarding markers for Ds...

I'm 20wks pregnant with my 3rd child and I'm 31 years old this year. My baby's NT scan came back with a high-risk of Ds as the nuchal fold measurement was about 4mm if I remember correctly. Coupled with my age, the risk stood at 1:274.  CVS and Amniocentesis were offered but I did not take it up as I wasn't convinced there was enough evidence of an elevated risk of Ds since the nasal bone was also detected.

However, when I went for the detailed fetal monitoring scan yesterday, I was devastated when the scan found several more markers indicative of a higher risk of Ds in this baby. These included:  backflow of blood in the heart's chamber, baby's limbs are short, amniotic fluid is low, baby is below 3rd percentile in terms of gestational size, there was a clavicle abnormality detected and esogenic bowel tract also detected. The hospital strongly encouraged me to go for an amnio to confirm the probability that this baby will be born with Ds.

Has anyone ever had the odds stacked so badly against their baby and yet gave birth to a perfectly normal child? I've been reading about false positives in screening tests but I've also been realistic about noting that those parents only had maybe a high NT reading or one marker for an abnormality in their baby while I've got about 7 markers detected in mine.

Could anyone who either works in the medical profession or who might have gone through this personally please share your thoughts?

I'm scheduled to see my doctor in a couple of days' time and will probably opt for a last minute amnio before deciding on what to do. I'm not looking for a quick fix to what may potentially be an issue with my baby but I am realistic enough to know that I'll not be able to raise a child with Ds. Any information or kind words will help me cope with this situation.

Thanks in advance for reading and responding, everyone :)  

[expectingandhopeful]

Just wanted to give an update that my beautiful healthy babies were born on October 6th, 2011. They are prefect with no health issues. I am so happy and finally at peace. Good luck to all mommies to be <3

[seattlemom2plus]

I do hope that everyone that shared on here posts the final outcome after birth.  I am very curious of the results.  I have known several families here locally that were given major scares because of their test results and the babies came out normal.  One was even convinced that the baby was 10 lbs and had to be taken by c-section and then at birth the baby was only 6 lbs.

Even without the scans I still worry.  There are so many what-ifs that the only thing I can do is have faith and remain positive with the pregnancy.

[expectingandhopeful]

I am 34 weeks pregnant with twin girls. When I went to my 12 week scan I was told that the NT was very high for both of them. One had 3.5 and the other one a little bit over 4. Also they had some fluid in the brain. I was told that it looks like they may both have DS. It was devastating news. I demanded CVS the next day. I was able to have that done and then had to wait 5 LOOOONG days to learn that everything came out clear. At my 20 week scan I learned that one of the girls had a drop of urine in her kidney and the other one still had some cysts in the brain. They told me because CVS came out clear I should not worry otherwise it would be soft markers for chromosomal abnormality. I still worry everyday. Until I give birth and they are checked by the doctors I will not be 100% sure that they are ok. I will however deal with what I get and it will be hard. I have two other kids and my current relationship with my partner is not doing so great. I can feel your pain and am sorry for what you're going through. When I first found out I didn't even want to be reminded that I am pregnant. I wanted to forget and isolate myself so that in case there was something terrible going on with the kids I could easily abort. There's no easy abortion though. :-(

[AlexisMarie2012]

I had my nt scan which was normal. But both.of my blood test came back for downs. So I opted for an amnio. They told me that I had a 1 in 50 chance of having a baby with ds. When I got my results back they told me everything was okay with her. And they confirmed the sex of the baby. I choose to do it so I could prepare myself for it incase the baby did have ds. In my opinion i would get the amnio done. But just choose what you think is best for you and the baby.

[xsara_d]

Hi, thanks for replying...

I'm not scheduled for any more tests apart from the amnio (if I so eventually decide on having that) and that'll be to help me determine the risk of Ds in my baby and then I guess I'll take it from there. It's just so disheartening, with the odds stacked so highly against this baby :(

I just wish I knew with absolute certainty. Too bad Life doesn't do those :(

[seattlemom2plus]

I have not had this indicated in my own scans, but I personally limit scans because it is more important to me to remain calm and not worried during the pregnancy.  However I do understand everyone has a different in opinion on this.

I think babies have different growth rates even in utero.  As far as your age being a factor, I thought 35 was the magic number.  I'm 36 and on my 3rd child and was presented with the same option to have an amnio, etc. but for me personally, if there is nothing we can do while the child is in the womb and there is no cure for DS anyways, then why do I want to have additional tests to confirm.

Do they have you scheduled for an additional anatomy scan in the weeks to come?