30 answers

First Trimester Screening**updated**

****please see below for my update on 10-16, thanks!!!!****

My ultrasound and first batch of blood work was fine. I was 1 in 380 for downs. Perfect, I was told. Much lower then most women my age (I am 33). Then my 2nd batch of tests came back 1 in 190 for downs. Much higher them most women my age. The genetic counselor has me all freaked out now, and they want me in Monday (their first opening) for a detailed ultrasound with a specialist and a possible amnio afterward. I know that the tests are not 100% accurate, and 1 in 190 is still only like 1 1/2 of a percent, which is such a low risk. But I can't help but to be super freaked out. Does anyone have a story to share to calm me down OR prepare me? I am currently 17 weeks pregnant. And I don't want an amnio!!!

What can I do next?

So What Happened?™

I had my appt yesterday, but before I tell you the results, I would like to tell you a few things about myself and my family. My husband has something called "marfans syndrome."
http://www.americanheart.org/presenter.jhtml?identifier=4672
As a result, he had a heart valve replaced at the age of 23, and is partially disabled. He is a stay at home dad, and goes to college at night.
Our children have a 50/50 chance of inheriting this syndrome from my husband, it is literally a coin toss chance. We suspect that my 15 month old son, Chance, has it as well. I work in an
obgyn office, infact, I have been seeing a peri Dr in my clinic, from day 1. Due to the marfans and toxemia during my first pregnancy, I am considered high risk. As Gina put it, "it doesn't
help that I am in "the field." I have too much knowledge. I live it and read about it everyday. And sometimes too much knowledge, does more harm then good. That is why I was asking
for personal stories, as personal stories are worth their weight in gold, and mean far more then "statistics." I am new to message boards, and learned a valuable lesson; Next time I am
going to ask something so personal and close to peoples hearts, I need to give more information. Although, I was not asking for peoples "opinions." Not everyone can "leave it in gods hands."
My husband and I would choose to abort a downs baby. Would we think about this for the rest of our lives? Absolutely. However, bringing a downs baby into the world with a 50/50 death
sentence is not an option for us mentally, or financially. The majority of the response were assuming that we would keep the baby no matter what, and a lot of the responses although meant
to be encouraging, made me feel WORSE. I actually wished I wouldn't have put my question out there, I asked a question, and got a whole lot more then I asked for. And before you ask,
yes, an amnio can tell us if the baby has Marfans. However, the test is still new, and requires at least 6 weeks for the parent's and fetus' DNA to be grown and tested against each other.
I don't have 6 weeks. The choice of abortion would be VERY difficult for us at 17 weeks, and impossible for us at 23 weeks. I couldn't do it, but would have too. A downs baby with marfans
is NOT an option for us. Back to my appt.........I am pregnant with a very wiggly, perfectly healthy, little girl. We are ecstatic! There were no downs "markers" during the detailed ultrasound,
therefore we opted not to have the amnio. The blood test in conjunction with the ultrasound, out my numbers at 1 in 300. Thank you for all of your well wishes.

Featured Answers

I don't have too many specifics in my story but maybe this will help make you feel better. My sister had a girlfriend who tested positive for downs at some point in her pregnancy. She and her husband were very concerned, but did not share the information with friends and she carried the pregnancy to term. She came out with a totally healthy baby! :)

1 mom found this helpful

My understanding is that this test has a large margin of error. I know of 2 women who have been through this, both with false concerns.

More Answers

Chill out...everything is going to be fine. It doesn't help that you are in "the field" I am a 40 yo mom to a 16 yr old and a 7 mo old.....33 is not old and those stats are blown out of proportion. They are just being cautious....There are worse things to worry about...easy for me to say, I have already had my baby...No, Seriously!!!Hand it over. The stress is not good for the baby....I had a 1 in 77 and I just decided that I was not up for the amnio because it wouldn't change my decision to have the baby so why take the added risk. (I had 3 previous miscarriages years ago) It is your "choice" whether or not to have the amnio, the tech actualy is the reason I rejected it. The Dr seemed "put out" that I refused it. I didn't care. It is my body and my decision. Be strong....
I had a healthy 8 lb 14 oz, 21 inch bouncing baby boy!!!!He was a month early!!!!Good luck! I will be praying for you.Are you going to the perinatologist, Dr Richey? She is at Providence. She and her husband delivered my baby!!!If you need a pep talk please feel free to email ____@____.com
Hugs,
G.

1 mom found this helpful

Hi J.,

First of all, stay calm. Worrying before you have any test results back doesn't do you, or your baby, any good.

Enjoy every minute of your pregnancy, no matter what happens. There are too many gals in the world who cannot get pregnant or, for some reason or other, won't get to have their babies. Consider how lucky you are in the first place and a lot of the worry will go away right then.

As for the ultrasound, be sure to ask any question you darn well please during the session - and make sure the specialist answers them to your satisfaction. Nothing is more calming than knowledge. Be sure to let them know how deeply you're concerned, without freaking out. And why don't you want to have an amnio? I had one last year (I was 40 so my risk of a downs baby was 3 times higher than yours) and the amnio was the only way I was going to get the most conclusive results about the baby's condition. The chromosome study from the amnio was very valuable. We now have a beautiful baby girl who is 5 months old.

After all the results are back and you have a better idea of what's going on then you'll be able to go forward with confidence.

Be sure to check out the section in Mamasource from those who DO have Down Syndrome angels...you might not be so scared then. These babies are blessings just as much as all other babies are.

J. C

1 mom found this helpful

My name is M. and I was 36 when giving birth to my last child. It is very common for the Dr. to schedule this extra detailed ultrasound. I had to go through it also, just because of my age. However, I chose not to have the amnio, because my other kids were fine and this test in of itself can cause a miscarriage! I enjoyed seeing the special ultrasound and decided to take what God gave me. The amnio test is strickly your personal choice. Just thought I'd share mine!

1 mom found this helpful

I don't have too many specifics in my story but maybe this will help make you feel better. My sister had a girlfriend who tested positive for downs at some point in her pregnancy. She and her husband were very concerned, but did not share the information with friends and she carried the pregnancy to term. She came out with a totally healthy baby! :)

1 mom found this helpful

This sounds similar to what happened to may daughter with her first pregnance. She had amniocentis and learned that the baby was fine. She was told that the odds were in favor of the baby being normal. She was a little anxious but then after the results she felt more reassured about everything. The amnio can rule out other abnormalities.

My recommendation is to stop thinking about it if you mostly entertain negative thoughts. Find ways to keep your mind off it. And when you do start to worry remind yourself that you will be a part of the other 98 1/2 %. Doesn't that help you feel better?

It's like when I had my first surgery, I was so anxious and the nurse told me that I had a better chance of dying when I crossed the street to come to the hospital than I did having the surgery. And I had survived crossing the street. :):) Your odds seem to be similar. You don't worry about crossing the street. Don't worry about having a downs baby. Still it's a bit scary but it isn't life threatening. And I like the reminder that parents who do have downs babies report a lot of positives.

1 mom found this helpful

Hi J.,

My husband and I went through something very similar. We didn't even know they had ran the tests. The next thing I know my dr. office is calling me telling us we tested for downs and require more testing. I stressed my entire 9 months over some simple tests. I am 27, and I don't remember what my numbers were, but I think they were in the 1 in 150 range.

We had the level III ultrasound to look for markers. We opted out of doing the amnio, because my husband and I decided whether our baby had this special need or not we were keeping the pregnancy and baby of course.

Our son was born perfectly health, no problems at all. He in fact has only been sick 3 times in his 17 months, and never an ear infection.

Try not to worry until you have too. I know it is really hard. I hope this helps.

-- S.

1 mom found this helpful

My understanding is that this test has a large margin of error. I know of 2 women who have been through this, both with false concerns.

I had the same thing happen to me with my first baby (he is a healthy baby boy) and I think the important thing here is to not let the doctor or anyone else push you around. I declined the amnio my first time and just had the ultrasound which was able to screen for any major problems. It is a personal decision and you decide what you and your husband want. Don't let anyone sway you from what you and he think is best for your family.

They wanted me to do the same with the second one, but I just refused and told them I would have an ultrasound, but not even consider an amnio. They were much more supportive the second time around and it looks like everything will be fine.

Just hang in there and concentrate on your health and your family.

E.

Well J. I am a mother of four and all were diffrent when I was caring. When I was pragnet with my third they did a ultersound and found that I only had two vains in the unmbilical and there should be three so all the testing started because this is usally a sing of a deformed child or a develiment problum for the child. They had me ever month three times a month for ultersounds and test to make sure all was fine. They told me that there was a high likly hood that the child would be born with deformentys and posible retardation so as you can imagin I was very freaked out and conserend of what was going to happen. Everything seemed fine and was the only thing that was wrong is that my son while caring was developing a little slower then a normale pragnecy so there was yet more concern that when the time came to deliver that the child would not be fully developet and able to breath on his own when he was born. When it came time they did the amnio and deside they where going to pospon the deliver for two more weeks. Do to the fact that I started haveing complictions they had to go in a take him anyway because they feared that if they did't I would not make it. So they took him a month and half befor he should have been born and yes his was in icu for four days be only because of his size he was fine and went home with me when I was relsed from the hospital. He is in purfect helth and is now seven and is a joy in my life he has some much life in him that most of the time he is the life of the party and of the family. I look at him everyday and wonder why I was so worryed it the end the lord will not give you more then you can handle and so don't get descureged if your little one is born with downs then you will be able to handle it because that is the little one that the lord wanted you to have that is a little one that the load thought that you could handle and that you could offer a good life. But as I sit here wrighting this I do not feel that your little one will have any problems and that he/she will be in perfect health. God Bless and try not to worry and get freaked out about it worrying may just worsen the situation more.Take care J.

Hi J.-
My heart goes out to you. Three years ago I went through this same stuff only I was in the end of my second trimester. i don't remember my numbers exactly but it worked out to be about 23% chance of downs. I was given the option to abort, amnio or let things be. Abortion was out of the question since I loved my baby already. My chances of miscarring with the amnio were around 30% so we decided to wait things out. Well-my son was born with no problems and they determined that my problems were because I was having a big baby. (He weighted in at 10 lbs. 5 oz). I will keep you in my prayers and hope for the very best for you. Just relax, breathe and hope for the best. Your chances are still pretty slim.

I was EXACTALLY where you are! My chance where 1/190 also with my second but I was 28. We waited until the ultrasound. If you see the baby doing everything they are suppose to do and have NO signs of downs then refuse the amnio. The doctor that reviews the ultrasound should tell AND show you the signs if there are any. Besides if the baby has downs then it is one more hurdle in life that you must jump over! My almost 2 year old is a VERY healthy, normal little girl. We chose the ultrasound, but NOT the amnio and everything was fine!

The tests are non conlusive and non accurate. Do your research. Trust your instincts!!

Good luck!

My name is N. and I have a beautiful one year old little boy. I am only 23 years old and when I was pregnant with him they gave me the exact same odds. I was completly freaked out, like you. I went through the same thing ultrasound after ultrasound, test after test, but I never got an amnio because I told myself if God wants me to have a downs baby that is just what will happen. so I went the rest of my pregnancy not knowing, but leaving it in Gods hands. Let me tell you that when your baby is born that will be the last thing you think about. Just so you know my son is just fine and he was born a month early. Healthy and growing like a weed. So all I can say is calm down don't get an amnio it just adds more risk of miscarriage nad leave it in Gods hands and everything will turn out great. If you need to talk to can e-mail me at ____@____.com.

J.,

Hang in there, Honey! I am 37, in my 7th month with my first pregnancy. A few months ago I was in your shoes. Too much information syndrome! The Dr's all have the best intention, but wind up scaring everyone to death. In the next few days try to keep focused on the positives.... you have access to *amazing* technology for your health care. You are healthy and are doing all the right things you can for yours and your baby's health.

When we were in the middle of tests, I was very upset and nervous. It helped me to discuss with my husband honestly what our decisons would be in different circumstances: If the tests conclusively showed downs, would we terminate or not?
What would the odds have to be for us to have "conslusive" results? 1 in 30? 1 in 10? 50/50? 100% certainty? Once we had talked through our fears about the worst case, it clarified whether there was even a point in putting ourselves through the emotional turmoil of all the tests. Once we understood where we were in our own hearts, then it made the "to test some more or not" decisions much easier. Only you and your husband will know what are the right decisions for you family.

Good luck! Please keep us posted on your progress!
K.

J.,

I think the first thing you need to do is decide how badly you really want to know and what you'd do with the info once you have it. In general, the AFP test gives WAY too many false positives. I'm an *uhhem* older mom too so I know exactly what you are talking about. When I was pregnant with my now 3 y.o. the AFPs were fine but he had a few of the markers for downs on the ultrasound so they offered me an amnio. I said no - which completely pissed my husband off but it wasn't up to him! There was no way I was having an abortion no matter what it said (certainly not for something like downs... if it were something fatal maybe I'd have felt different but I don't know...) so there was no point in me putting myself through more stress. My perinatologist said the risk of getting an amnio at 20ish weeks was 6 in 1000 to cause a miscarriage. That was about equal to the risk of having a child with downs for me. If you aren't seeing a perinatologist, I highly recommend seeing one before you go any further. Their training and experience is really different than you get from a regular OB (I had a perinatologist with both of my children but my regular OB was still in the picture and delivered both of them - he was more of a consultant). They tend to be much less "alarmist." If you are in Las Vegas, I highly recommend Joseph Adashek at Desert Perinatal. I've seen him through 2 high risk pregnancies and I like him very much. He's very smart, very down to earth and not pushy at all. He explains your options, the risks and then lets you decide. He's a really good doctor. FWIW, my 3 y.o. son is perfectly healthy (he's on the autism spectrum but certainly doesn't have downs). I'd have loved him the same regardless...

T.

I suggest you do some research. Get the information about amnios. I might help you if you understand all you can. I can understand about not wanting to get one, the thought is scary. And when it comes down to it, you have to do what is right for you and your baby. If you do not feel comfortable with the risks, then tell your doctor that. They can't force you do anything. Knowing this early is about being prepared for what will happen when your baby is born, being prepared for a child with a condition. You will make the right decision for you and your family, as long as you are informed.
And of course you are freaked out. Just try and get plenty of rest during the weekend and find a way to relax a little.

Dear Jen,
Here's a true story about my daughters first pregnancy. She was 17 her first screening came back fine her second didn't as yours did, she too was upset and her husband, they went in to have the ultrasound and it was fine the baby was fine, now my daughter is develop-mentally delayed she has the mind of about a 12 yr old, so we felt the chances of a downs baby we felt was high, but her son is a beutiful rambunchous boy now almost 5. Now as for the amnio, I had that done and though it looks very scary it isn't that painful if you have ever had an IV in your hand the IV hurts worse of course everyone has a different tolerance when it comes to pain. But don't worry about anything I am sure your baby will be fine. You should ask yourself though would it really matter how the baby came out? God bless.
A.

J.

When I was 35 weeks pregnant, I was told my baby would need to have surgery as soon as she was born. I was also told that with the type of surgery she needed to have there was a 1 in 3 chance my baby would have down syndrome. My husband and I had a choice to find out if the baby had down syndrome before she was born. Since I was so close to my due date, we decided not to find out, because we knew that it wouldn't matter anyhow and as soon as we saw her we would fall in love her no matter what. She was born at 36 weeks and does not have down syndrome. She did have surgery but recoved well after 5 weeks in the nicu. She is now 11 weeks old and she is so beautiful and smart. I will pray for you and I know whatever decision you make about the amnio will be the right one.

I had a friend who also had such results recently and her baby was born perfectly healthy, and while the risk for downs is slightly more becoming overly stressed is not good for you or the baby. Most importantly, your doctor should have discussed with you that the amnio is optional. My doctor told me that the only reason I would really need one is if I may decide to terminate the baby due to having downs. There are pros and cons as with having an amnio. If you want to be absolutely certain to put your mind at ease it may be worth it to have the tests done. Even if you discover that your baby has downs it will give you time to prepare and learn. I'm sure I'm not being very helpful to you, but know that your doctor should ALWAYS explain any tests or procedures to you before doing them.

This has happened to several women I know. Mostly the doctors were WRONG! They suggested the "option of aborting"! The ones who said no are beyond glad that they did. 7 out of 10 "experts" were wrong... The 2 I know who did choose to keep their downs children were never told they had a downs baby on board. BUT, both though initially freaked out about the sudden delivery of a downs syndrome baby, (not expecting this) have come to love unconditionally these children they now call a blessing and joy for all of the family. There are varying degrees of mild retardation as you may well know.There are now famous down syndrome actors and actresses as well as singers. Most learn to live in safe group homes with others of same, and work and live independantly as adults should they choose to. They are very affectionate, loving, gentle and kind. It is like never losing Your "child". Of course they are slower in doing the "firsts" but not for long.There is a very famous writer/high demand speaker by the name of Pam Vredevelt who is also in private practice as a PhD.She lives in Gresham , Oregon. Their 3rd child Nathan is downs syndrome. She has written some awesome -meaningful,even humourous books on life with a down syndrom child once the shock and disspointment pass. She likened it to planning a trip to France your whole life and finding when you deboard from the plane, that you are not in fact in France, but in some other country you did not study and plan for but yet there are delightful things to see, do and endear you to that country. My prayers are with you. I think God does not give us more than He knows we can bear and He is there for us so there for us always. Jean

Hi J.,
Follow your instincts. I had an amnio with my second and it was optional and will never have another one again. While it was less painfull than drawing blood I got sick to my stomach a couple of times afterwards (normal) and had cramping for a few days. If you do not want one, opt out of it. Does it really matter to you if the baby is born with downs? My nephew has Downs and is the most loveable child I have ever known. My sister-in-law did not want an amnio so they just went off the blood work which said that it was likely he would have downs but it was a high percentage, much higher than yours. Just follow your gut and dont let the doctor bully you.

Pregnancy is a human condition, not a medical condition.

Brightest Blessings,
E. N

Don't be worried. If your child happens to have downs then that is just something you will have to cope with. Amnio's can be very dangerous, even with an expert performing the procedure. Even if they do an amnio to see if your child really does have downs that is not going to change your pregnancy at all. It may confirm it, but why risk doing a procedure when you can just find out for sure when your child is born. Your pregnancy won't be different after knowing. It will just worry you and stress you out. Just relax, and don't let the drs worry you.

Hi J.,
I just had to write to you. My cousin had a amnio and it said her baby was going to be a spinabifida and she decided to go with the odds and have the baby. Thank God because her baby was perfect. God is in charge no matter what. So I guess I would advise you to relax and go with it dear. My friend had 2 children after 40 and they were both fine. God is good and what will be will be. Also My niece was downs and she was so very special to us. I take care of special needs adults and traumatic brain injury folks and they are all loveable people. Leave it in Gods hands and enjoy your pregnancy and enjoy what God gives you. Good Luck

Hey,

First I want ro say congrats on your pregnancy.

I had very similar experienced as previous post. I was 34 years old at time and my #'s were very high.

My husband & I talked about the amino (which to me no matter how many are done safely to me it was risky) We had a serious discussion that if we went through the amino and it did show Downs would we terminate the pregnancy or not.

We decided we wanted baby no matter what and we weren't comfortable with the amino, so we just waited.

Throughtout my pregnancy it was always on the back of my mind. Can we? What if? etc?

We had a healthy boy of 9lbs and 8oz

My suggestons are

First:you have serious talk with you husband and decide if it would change things, if it would go for the amino.

If not don't do amino if your uncomfortable with it.(read advice (2-4)

Second: Get friends or family you can talk with through this about your concerns.

Third: Be prepared. look up stuff on downs

Fourth Try to not let this over shadow the joy of the pregnancy

I have a friend who was much older and got disturbing results back as well. They decided to avoid all other tests and just enjoy the pregnancy knowing they would deal with whatever came there way on that day. They were going to love the baby no matter what. She ended up having a healthy baby girl and went on to have two more, all healthy. Stay positive since the test cannot be 100% accurate. Either way, you were given this sweet child with a purpose and you will be the best mom this baby needs. He/she needs you to love him/her unconditionally starting now. I wish you the best!

When we had our twin girls (very high risk) they asked us if we wanted all of the 'stuff'. Our question to ourselves was, "Will we love our baby any less if there are challenges?" Our answer was "NO". We chose not to have the amnio and don't regret a thing. One of the girls does have Cerebral Palsey from a completely different issue, but we love both of our girls soooo much and wouldn't want her to be any different than she is. We want her to walk and function normally, and work like little dogs to help her do that - every day!! Don't freak out - your baby is your baby and as parents, we choose to love them - everyday, sometimes multiple times a day for toddlers and teenagers. Follow your gut - if you don't want the amnio - don't get it, but start choosing everyday now to love your little bundle of joy that is on the way.

Just my opinion, hope it helps!!

V.
Dad to 12 y-o boy, 4 y-o boy, and twin girls 1 1/2 y-o

Hi J.,

With my first baby all of my tests came back normal. I was never sick, no bleeding, nothing out of the ordinary. It turned out that our son had an anomaly that was not detectable by amnio and that was not compatible with life. He died at about 22 weeks gestation.

My point is that even had I gone through an amnio, we would have still thought we were having a healthy baby. I was 33 at the time and had refused amnio. So having an amnio may tell you that your baby does not have Downs, but an amnio isn't a catch-all, you know what I mean?

I have two healthy baby boys now and during each pregnancy I just decided to focus on things I could control such as eating healthy, exercise, having fun decorating the nurseries...all the controllable stuff.

I think the fears of pregnancy are good practice for being a parent. You want to protect them but at some point you realize that you cannot control everything. What you can do is try to live more in the moment and enjoy what is going on today. Right this minute.

I don't know where you are delivering or receiving care but I had all my babies at St. V's and went to Northwest Perinatology for genetic counseling and ultrasounds. The staff are all knowledgeable, and very nice to boot.

Good luck! P.

Hi J.
Stick to your guns and do what you feel in your heart. I was in a position where they kept insisting I needed an amnio. They said my tests, my baby's head measurement, and the fact that I had way too much amnio fluid led them to think I probably had a baby with some sort of birth defect - maybe even downs, they didn't know and they wanted to test. I knew the risks of the amnio test to the baby out weighed anything. I wasn't going to do the test - besides, if it confirmed anything I knew I couldn't abort. I stuck to my guns, prayed the whole time that my son would be so smart I couldn't keep up with him. (Watch what you ask God for) He was born 3 weeks early and absolutely perfect. He is 3 1/2 now and so smart that he baffles our minds with the stuff he says and does.

I felt really compelled to respond to you because 4 years ago I was exactly in your position with a due date of March 27th. Good luck with your choice and I know you will make the right decision.

L.

I work in the labor and delivery area of a medium sized hospital and have been a NICU nurse for 12.5 years. I can't tell you how many moms were scared to death after being told their baby would be born with down's or some other problem. My own baby was at high risk for rubella related problems such as blindness, deafness, deformity, heart and kidney problems. I put the whole pregnancy in God's hands and was so greatly rewarded. I got a beautiful child who's the happiest influence in my life with his sunny disposition.

I have no idea what these number's mean because I had my babies at a young age but the doctors even said to me that I might be too young for child birth.He told my i was High risk. I was 18 with my daughter who by the way was born at 9lbs 5oz and has been the most healthy, smart and adorable gift I have ever had.I belive that whatever god gives you it is ment for you and you can handle it. Everyone is put here with a plan and a reason. and this baby is given to you as your light. If you worrie it's just going to put stress on the baby. So if you plan for the worst and hope for the best I belive everything will be fine. With my daughter i read everything I could get my hands on from how to push to what kind of disfigurements and illnesses are out there. That way you know what to expect IF something does go wrong. But if you concentrate on the beutiful baby clothes and toys then you wont keep your mind on the worst. Just plan for it. Read up on what doctors do what and who's the best at it. How much things like this cost. Find websites. Educate yourself so you are prepared for anything. Your baby will be Fine. Just remember the baby is god's gift for you. And you'll have to belive that to make it true.

I did not have the privelage of birthing my own children but I do have experience in helping with births as I have several nieces and nephews. I can tell you that I have a nephew with downs and he is wonderful. When my sister-in-law was pregnant a second time they wanted her to go through all the test to make sure the 2nd child was not the same and she did not want to take the risks of an amnio so they decided to let things be. My 2nd nephew was born healthy. I went to her visits with her. The thing you have to asks yourself is what are your options. If the test come back that you are having a downs baby what will you do(Will you keep the baby or des it matter)? From my sister's point of view is "If the baby has Downs, I will just have to take extra special care of another child, so why bother with a test that may harm it more". If you feel that you will keep your baby no matter what just let things be. You don't have to understand my opion but I hope it helped.

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