1:48 Risk for down Syndrome-should I Be Worried? - La Joya,TX

I had very similar results when I was pregnant with my second daughter. The newest blood tests were not yet available in my state so I opted for the amnio. I am a worrier and a planner and I just needed to know. I knew that it wouldn't change anything for me, I just needed time to process. The amnio wasn't that bad and my results came back back negative for ds. I was able to relax and enjoy the rest of my pregnancy. I know the blood tests are more available now than they were two years ago. There is nothing wrong with having to know. It really put my mind at ease.

Brenda,
You posted on this a few days ago and I didn't respond. Frankly, it's because I don't think anyone can give you the kind of reassurance you are wanting, other than your doctor and the medical community.

It would be irresponsible of me to tell you that everything will be fine. And it would also be irresponsible of me to tell you that it won't be fine. There are false positives on some tests, I have known of many cases where a false positive was just that, and I know of a few others where the indicators were there for a reason.

It may also be that an amniocentesis will be necessary to give you the answer you are wanting. My advice would be to really talk with your husband about what life might look like with a special needs child and what your feelings and fears are around this. I didn't get an amnio with my son because I knew that I was-- and could--- love and care for my child no matter what their needs were. And I also know many women who did get an amnio because they knew that they would terminate the pregnancy if the child wasn't 100% 'normal'. In my community, I have known of quite a few families of special needs kids whose parents have beautifully risen to the responsibility. These children have challenges and have also been embraced by our community.

All that to say, it's a very deep, personal choice and even if you do ask this question every day on this site, you will only get the peace you are seeking when you have some answers about *your* particular baby. So, do try to keep that in mind. I also think that if the doctors felt that your pregnancy needed more medical attention, they would certainly make that assertion and have you going in for more frequent ultrasounds. So, try to hang tight, talk with your husband about some 'what if's so you have some idea of what you are both wanting, and go forward ONLY when you have some information about *your* baby. Good luck.

The odds are in your favor, I would bet your baby does not have Down syndrome. Re: the ultrasound...they only show "markers" for Down syndrome. In other words if they see a marker, your baby will be at greater risk for DS but it is still not a sure thing. However not having any markers does not mean your baby does not have DS. The only way to know for sure is to have more invasive testing done like an amnio or CVS testing where they take a sampling of the baby's DNA.

I have 3 children. 2 of them came back with high odds from the AFP blood test. That blood test is notorious for being very wrong and needlessly worrying parents to be. The test has to be taken in a very small window of time during pregnancy. If your dates are even the slightest bit off (i.e. you didn't conceive at exactly 14 days and carry exactly 40 weeks to the day) it can skew the results. Age is immediately a factor against you no matter what else is going on.
In both cases my children were born without Downs or any other complications. They are both healthy and growing like weeds.
Each time we went and talked to the geneticist that asked a ton of questions. By simply asking those questions our odds improved dramatically. The ultrasound confirmed there was nothing wrong with my third. There were some issues found on the ultrasound with my second so we did the amnio. I do not recommend having an amnio unless problems are found during the ultrasound. The amnio I had caused contractions and I ended up on bed rest all weekend concerned I was going to loose him. The amnio came back with nothing wrong and follow up ultrasounds showed that the issues resolved themselves (immature circulatory system).
I know it's hard not to worry but you really do need to try. You said they have already done at least 1 ultrasound and found nothing wrong. That is a great sign and means that it is unlikely they will find anything wrong at the higher level ultrasound. A 2% chance of something being wrong means a 98% chance that nothing is wrong.

Age wise, you are a low risk. The only reason I was tested for Down Syndrome with my first baby was because I was considered "advanced maternal age." I was 35, 36 when our daughter was born. I had the blood work done right at the end of the window for testing. I think that is a big part of what gave the false positive.

In my experience, the doctor was very honest with me about what was seen in the blood work and in the ultrasound. If they had told you there was a high risk for Down Syndrome I think they definitely would have told you if they saw anything unusual.

More than likely the reason the nurse said the baby's life isn't being threatened is because Down Syndrome is not a life threatening disability. The fact that they do not want to do a sono right away is good. If they wanted to do it ASAP, that would be more concerning to me. That would show that there is a health problem that they are worried about. Another reason they probably won't move it up is because they want baby to grow bigger so that they have a better view of things like the heart, the back of the neck, and the palms of the hands where they can see soft markers. When I had a follow up sono, baby wasn't big enough and I ended up having to go back in for another one about two weeks later.

I know it is hard not to worry, but you aren't doing yourself any good by worrying. Relax. The doctors know what is best and they will let you know all the information that you need to know. If you feel like you need to be doing something, educate yourself about what they will be looking for in the level 2 sono. Be prepared to ask questions. Ask exactly what they are looking for and what they saw in the initial test that led them to believe you have a 1:48 chance. Maybe see if you can make an appointment to talk to a genetics counselor. Putting too much stress on yourself is not going to make the situation any better. It will be OK no matter what happens. Take care of you!!

None of us know what is in the future for your child... I realize you are worried, but does that change the outcome?

Last year, a couple I know of (connected through a local school.. I don't know them personally) had a little girl.... when she was born, it was discovered she had Down's Syndrome. We were all told that it was a complete surprise, that none of the "soft markers" or indicators showed any risk for Down's Syndrome.

You don't know what is in the future for ANY child...... all you can do is trust that it will all turn out right.

As far as trying to reschedule the level 2 sonogram, the nurse tried to tell you that they did not feel there was an urgent need for it to be sooner. Try to find comfort in the doctor and nurse trying to tell you there really isn't that much to worry about.

All you current worrying is going to do is upset you needlessly, and possibly cause other issues with stress and lack of sleep.

1:48 is really LOW odds..... find comfort in that.

DS is not life threatening (though some DS babies have heart issues that are easily surgically-correctable at birth) so no rush unless you are planning for a 2nd trimester abortion if the baby is diagnosed with DS.

Meanwhile, check out the blog Noah's Dad (http://noahsdad.com/). Very informative, funny, and inspiring. It is a huge resource and source of emotional relief to many expectant parents who learn that their child has DS.

In my opinion about the nurse's comment; you are low priority compared to other pregnant women whose babies and/or mother are in a life or death situation.

You can pay out of pocket to have the ultrasound. In California many do this. It could be for fun (finding the gender extra early). The Sonographer I used has a machine that is much more high tech than the ones in a typical doctor's office. I actually am not sure if this person will tell you directly or if he would contact your doctor is there is an issue. Here is his website. Maybe you can find one similar in your area. http://www.scanbabies.com/index.html

I could tell you to relax and do not worry, but you are clearly thinking about this non stop. If shelling out $150 to get rid of the stress 2 weeks sooner, then I think it is money well spent.

Down Syndrome is usually a high risk for older moms. What puts you in a high risk at your young age? If the doctor specifically saw something she would have told you. I'm just curious why you are at a high risk at your young age. Did she explain why? If she did not you need to talk to her about it so you understand. There's no reason why you should be stressed out and not know the reason why.

They have regular routine ultrasounds. If there's no risk to you or baby they're not going to do anything outside of their normal schedules, so that's a good thing.

I don't know why she mentioned the ratio for you for Downs but I would call and ask her. Write down a list before you call so you get all of your questions answered. Just enjoy the moment and try not to stress yourself out.

K. B
mom to 5 including triplets

Get the blood test done tomorrow! You could possibly have results by Friday or Saturday. Why put yourself thrru a month of worrying.

I got to 1:3 and baby did not. Your odds are still low.

I hate that test.

The dr. probably only said something, to cover themselves. They have to mention any and all possibilities in the pregnancy, so that if your baby were to arrive, and test positive for Downs, you couldn't turn around and sue for not knowing.

The important question isn't does your baby have Down's. The important question is, does it matter if your baby has Down's?

When my mom was pregnant 27 years ago, she had 4 friends that were also pregnant. She didn't have the test done. Her four friends all did. They all got similar or higher results. One family was given a 'positively' result. One parent wanted to abort. One parent did not. It put a lot of stress on the pregnancy and marriage. In the end, they carried the child to term. The child was born with mild Cerebral Palsy, and if you didn't know, wouldn't know that there was anything different.