Thanks - New York,NY

Hi Kelly,

The same thing happened to me. I was 42 at the time and we recieved this horrible news. We were given no choice and had an emergency CVS 2 days after the positive screening. The good news is; everything came back ok and we now have a beautiful almost 8 month old baby boy. He's perfect.

Just be careful - I know two women who had false positives - didn't abort, had normal babies. Good luck!

Hi Kelly, Firstly I know the stress and potential indecision you may be feeling. I had an amnio with my second pregnancy that confirmed downs. It was later in the pregnancy and very traumatic. I believe an amnio is done around 16weeks. I am currently pregnant again and this time we opted for a CVS. We bar-passed the screening as I was just so determined to know what was going on, (all is well this time). The CVS and anmio were similar for me. Both were abdominal. The CVS can either be abdominal or Vaginally. The procedure was quick. It took the Dr longer to set the gear up than do the procedure. I remember having more pain during the CVS rather than the amino but I'm not sure why. I had slight cramping for a day or so after - to be expected. Naturally there is a risk of aborting with the procedures so that was an added stress. Needless to say the knowing in both cases was a better option for my husband and I. Please feel free to email me if you would like to know more. Good Luck

Hi Kelly,

I'm 37 (36 when I got pregnant). We had the nuchal translucency test when I was 11 weeks pregnant and we were told that there was a 50% that our baby would have Downs or another chromosomal defect (this was changed to 30% by the genetic counselor later that day, but by that time we couldn't hear anything - we were too upset). We had a vaginal CVS that day. The next 2 days were hell. on the third day we got the "quick" results back and found she was negative for the 5 main defects (that's when we found out she was a girl, too). A few days later we got the full results back saying her chromosomes were normal. This is 100% for whatever they test for (in other words, barring a mess up in the lab, they will be definitive but they don't test for absolutely everything). we had other tests thru out the pregnancy mostly to make sure she did not have a heart defect (the nuchal test is also correlated with heart defects in a couple of studies). 30 weeks later our daughter was born and today she is happy and healthy and the love of our lives.

My heart goes out to you. The experience was in many ways our first glimpse into how enormous being a parent is. we learned a lot about ourselves and ultimately, I think it was an important part of this journey we're on.

Good luck and much strength.

At my 20 week ultrasound I was told that there were abnormalties with our baby. I was 24 and told that our little baby could have down syndrome or worse. We were strongly suggested to abort. We decided to continue the pregnancy, since abortion wasn't an option for us. 8 days after his due date a very healthy baby boy was born. We've never had any medical problems with him. I look back on it now and can only think how many other perfectly healthy babies have been aborted because the doctors thought something could be wrong. Also, Down's isn't the end of the world. Your child is still the love of your life, down's or not.

I personally haven't been through this but do know one mom that did. They told her that it was reading possible for Downs Syndrome, she decided against and Amnio because she felt whether the baby had downs or not she would love it just the same. The baby was born 100% healhty!!!! So just to let you know there are false positives on this test!

GOOD LUCK!

K.

Kelly,

I would get the CVS done. Just be sure that your doctor doing the CVS is properly trained for the procedure. Not all dr's perform the CVS and there is a rsik of misscarriage from having the CVS done. I had the CVS done and it was not a very comfortable procedure for me. I had it done abdominal. I had a lot of cramping after but was fine in a day. The results from a CVS test are suppose to be 99% accurate.

GOOD LUCK!

you are young, i bet the test is wrong. i know several moms of healthy babies who were told some test was not the results they expected. any test you get while pregnant will be nothing compared to childbirth. good luck.

When I was pregnant with our son 5 years ago, I was 43 and my husband 50. I was considered high risk for having a child with DS. We decided to pay extra $300 out of packet to find out if his arm bones were of the desired length and his nasal bone was already present (I forget the name of that particular ultrasound but I think is supposed to be done around 13-14 weeks) We were NOT interested in terminating the pregnancy if the results were DS but we wanted to be prepared mentally if that was the case to make plans for his arrival and learn how to care for him. My son turned out to be OK at the end.

I know of 2 couples that were told their babies had DS but ended having perfectly normal children.
Once you come to the conclusion that all will be OK even if he has DS, you won't worry so much, you'll enjoy the rest of your pregnancy and will look forward to meet your little one.

Many of us understand what you are going through. You are NOT alone.
A big, warm hug for you.

L.

Hi--I opted out of the nuchal fold test precisely because it is very common to get a positive screening that does not in fact indicate a definitive DS diagnosis. I just waited a few more weeks and got a CVS. They might offer you an option for extra money to get the preliminary screening results, but I also opted to wait the extra week to get the final results rather than make myself crazy. (I was 42, having twins--everything was fine.) CVS seems very scary, but If you go to a doctor who does them all the time, which I recommend you do, its not too bad. Feels weird, but its fairly quick. Hang in there and ask all the questions until you feel clear and satisfied!

although i haven't i just want to send love and prayers to you adn your husband. please stay positive. sorround yourself with people of faith, prayer, joy, and strength so that whatever the end result, you will be able to stay strong and be the best mom and wife that you are and see the miracle that this child is. God bless you and it will be okay!

Dear Kelly,
I can totally identify with what you are going through. I had a nuchal translucency reading of 2.9 at 13 weeks. After two miscarriages, it was a concern.

Please keep in mind that nuchal translucency upon ultrasound is NOT a very accurate way to detect Down syndrome or other abnormalities. All it means is that doctors have observed that fetuses with some genetic abnormalities are more likely (on average) to have a wide nuchal fold, however, it is not a definitive predictor because many normal fetuses also have a wide nuchal fold.

I think that the only advantage of having a nuchal fold reading is that it should really prompt you to have a CVS (genetic testing) right away which can give you a more accurate prediction of whether there may be a genetic abnormality such as Down's. A lot of people don't have this procedure done, which can be very useful in order to make decisions about the pregnancy. The CVS used to be a lot more risky, but now with the accuracy of imaging technology it has a much lower risk and you should definitely do it. It is practically painless and you should not be afraid of it.

If your CVS comes out negative, you might also want to consider a high definition ultrasound later in your pregnancy to try to assess whether other malformations might be there that may not be genetic in nature.

I also want to tell you that there is a VERY GOOD chance that your baby is FINE. As I said, I had a high reading too and for me it was quite a problem because I had had two miscarriages prior and I was 44 years old when pregnant at that time. But even though the nuchal translucency reading was high, the CVS came out OK for every genetic defect that we were able to test. At 45 years old, I gave birth (vaginally) to a beautiful baby girl who is very smart and fun at 1 1/2 years old. So again, I want to reassure you to go ahead with the tests and be hopeful that everything will be OK. It is very possible that your pregnancy is fine.

Hope this is helpful.

Mama

I don't know all the medical terms, so bear with me. My blood work all came back fine. During the ultrasound, they saw a "calcium deposit" on the baby's brain. and then the next ultrasound they found what they referred to as a "skin tag" on the baby's heart. both of which they told me could disappear on their own. But together- was a good sign of the baby being diagnosed with down syndrome. The Hubby and I did the whole genetic counselor thing... we found out that the pre-natal treatment is NO DIFFERENT for a down syndrome baby that it would be for a baby with nothing wrong. The amnio they offered us gives a risk of miscarriage- so we opted for a 2nd opinion from a different hospital. The 2nd opinion doctor was not as concerned about the "skin tag" and by the time I had this ultrasound done, the calcium deposit on her brain went away. Our baby did not end up having down syndrome- but why take any risks of finding out yes or no, if the treatment prenatally is no different?

Everything is going to be fine,,,,I am sure....

Hi Kelly,

I actually worked on the clinical trial in new york (called faster) before it became standard to do the testing. I did the follow ups with mothers. I spoke to many mothers who had false positives and were very upset because of it. There are many cases of false positives so additional testing such as CVS or aminio can tell u for sure. I actually did not get the testing done during my first pregnancy with twins because of this and also my dr asked if it would change anything for me. I said no. She said she does more testing during the second trimester which is more accurate so I opted for that. Good luck.

Hi Kelly

I had a CVS with my last child and everyone has their own reasons for doing it. The CVS was great it gave me the answers I needed early so I could have the facts.

I had amnios with my other 3 (all because of high risk factors), but that is too late in the pregnancy and you don't get your results back until you've started to feel the baby move.

Knowing early just gives you peace of mind.

I hope this helps

D.

Kelly,

This is who you want to go to if you're in the NYC area. He invented the CVS test, so he's the best you'll find.

http://www.nyp.org/FPHTML/1168360396570.html

http://www.nyp.org/news/hospital/875.html

Dr. Wapner comes to NewYork-Presbyterian Hospital and Columbia University Medical Center from Drexel University College of Medicine, where he was professor and chairman of obstetrics and gynecology and director of reproductive genetics. Board certified in obstetrics and gynecology, maternal fetal medicine, and clinical genetics, Dr. Wapner was instrumental in the development of chorionic villus sampling (CVS), a prenatal diagnostic test to assess the health of the fetus. And, as the principal investigator of a multicenter NICHD study group, he helped identify a first trimester screening method for Down's Syndrome, significantly changing the way prenatal genetic disorders are evaluated.

My thoughts are with you!

Kelly, a screening is only that, a screening. Many times it is a "false positive"; other times, sadly, the screening is doing what is designed to do and pointing toward a bad result. The only way to know for sure, as you know, is through a chromosome test such as CVS or amnio. You can do the CVS now or wait until 16-18 weeks for the amnio. For me, having been through similar, I wanted to know as early as possible. Here in NY we are lucky to have many doctors who have performed these procedures countless times, thereby making the procedure very low-risk to you and your baby.

No matter what you tell yourself or what others might say, you won't know how you feel or what you want to do, until you have a definite result in your hands. Those who say otherwise have never walked in your shoes. Good luck to you and I hope that all turns out well.

Kelly,
Those readings are not accurate, you can get a false positive. My doctor did an amnio to be sure. After the first one being false I opted not to have it with the other 2 and had an amnio which is accurate. All 3 pregnancies and the boys were fine. I wouldn't have it if I were you. If you are that concerned then have an amnio.
Hugs,
T.

Hi, i know you must be going through a lot right now! my thoughts are with you.

you can get an amnio as early as 16 weeks. and my sister in law was able to get preliminary results back in about 3 days on whether the baby had down syndrome. the full results take 2 weeks i think. but, she had peace of mind 3 days after the amnio knowing her risk, down, was eliminated. it was 500 dollars extra to get those early results which her insurance company paid for.

take care of yourself during this time. please let us know what happens. thanks.

Hi Kelly,

I also had a nuchal fold reading that indicated a higher than normal risk of having a down syndrome baby. We were very upset. Although, abortion was not an option I had to know for sure so that I could educate myself and be mentally prepared. Plus I didn't want to keep worrying or guessing the rest of my preganancy. So we had opted to take the amnio test. My doctor assured us that the risk of a miscarriage from the amnio test was very small. The amnio test only took a few minutes and I felt no pain during or after. Luckily the amnio test results were negative and I have a very happy and healthy baby girl who just turned 1 yesterday. I know the uncertainty is scary but please do remember the nuchal reading is only a screening. So just because it's out of the normal range does not mean your baby has down syndorme. If you cannot take the stress of not knowing for sure than take the cvs or amnio test.