Ultrasound Diagnosis

Hi S.,

I had 2 amnios (because of "advanced maternal age") with Dr Shaver at the Perinatal Diagnostic Center in Charlotte. He and his staff were wonderful. My second son had a different marker that showed a potential for Downs. We were able to find out that he was OK, but if he did have special needs, I would have wanted to know so that I could be prepared for when he was born. Good luck in whatever you decide.

i was preganant and had a baby that didnt make it of april 30th of 2005

On ultrasound they said that the bowel showed up dark which could be Downs syndrome and I also did the blood test as well they came and ask me to go to the gentic clinic with anne jewel . she suggested a amniocentesis and i refused to do this but all the test showed her to be a downs baby and she indeed was.
however she had problems with her bowel and did not make it and she passed and here i was going in to labor at 7 months induced because of that.

well these test are NOT wrong as far as I am concerned because they were not wrong with my daughter either

they said the ultrasound showes fluid dark and bone is suppose to be white and her in bowel there were many white particales bone like stuff
If you like to talk more about this you can email me privately at
____@____.com

what doctor do you see what clinic


I hope everything works out for you
God bless
R.

You really should get the amnio. You need to find out for sure so you can make an informed decision. If you are still going to keep her then you can start now getting literature about downs and start learning how to care for your daughter once she is born. They say God doesn't give us anything we couldn't handle but no one can doubt you for it if you can't. You seem like a nice person and a good mother. If you think you can handle it then good for you. It will be hard but if you start learning now you will be prepared. You need to get the amnio only then will you know pretty much for sure whats wrong. Maybe it's nothing at all, maybe it is downs you just need to know. If you have the baby without knowing then it's going to be even harder when you have her. They have amnios for a reason so I think you should get one. It's not pleasant but it doesn't take long and you'll feel better for getting it. I will pray that everything works out for you.

S.,
I was about 20wks pregnant with my first child, my son, when they also found a possible problem in our ultrasound. They believed he may have down's syndrome or another chromosome defect due to fluid on the neck. They also found a hole in his heart. After careful consideration my husband and I decided to go ahead and have an amnio. I wanted to know if he did have anything wrong so that I would be better prepared to handle it once he was born. My husband was also scheduled to leave for basic training two days from then so we wanted to know before he left. They also did many echos on his heart. The amnio results showed there was no chromosome defects but there was a problem with his heart. He was diagnosed with tetralogy of fallot which requires surgery to repair it. We were given the diagnosis months before he was born. I was able to learn everything about the defect and all that was involved with treatment. Later in my pregnancy I was told that they had forgotten to test for digeorge so I had to have a 2nd amnio! It was very scary going through it but I have not doubted my decision for one minute. My son had his corrective surgery on Sept. 15th of this year, one week before he turned 4 mnths. He is doing great and is one chubby, happy baby! I hope this helps.

S.,

I think there are some important things that you should consider when making this choice:

1) YOU and only you can make the choice (with your husband, of course). Others have said what *they* would do or did do, but they are not you.

2) No two situations are identical ... that includes the severity of the defects involved with any diagnosis, including Downs. It's not all like what you see on TV. You need facts to make an informed decision. Please consider meeting with a genetic counselor who can give you facts and help you sort through the information you receive. You can do this now, prior to making the decision about amnio.

3) Cystic Fibrosis can be ruled out with a simple blood test on you. But the ONLY way to know about chromosomal defects, like Downs, is to have the amnio. Well, CVS, too, but you are too late in the pg for this test. The quadruple screen and future ultrasounds are screening tests only - when it comes to chromosomal defects. They will give you a 1 in X number liklihood of a defect occuring, but only amnio can give you a yes or a no.

4) There is a risk with any invasive testing, like amnio. Talk to your doctors about who would be performing the test. Would they send you to specialists? Experience and expertise of the doctor are crucial in regards to safety of the procedure. If you choose to have the test, reduce your risk as much as possible by choosing the best-qualified doctor to perform it.

5) Even if you already know for certain that you would not consider terminating the pregnancy regardless of the diagnosis, there are advantages to having as much information as possible prior to delivery. There are situations where a child would need to be delivered via C-section in order to survive. And there are cases where a baby might need emergency surgery at birth or other special considerations. Knowing these things prior to delivery would help the doctors take the best possible care of you and your baby. The decision about whether or not to have amnio is not all about asking yourself if you would terminate or not based on the results. There are other important things that can be gained by knowing versus not knowing.

Please ask your doctors about referring you to a genetic counselor as soon as possible. They could really be a help to you as you consider your next step.

All the best to you and your family.

I agree with Jennifer about getting as much non-amnio testing done as possible, because what if she is fine and the amnio makes you miscarry? I also agree that you should prepare for the worst, and if you think you can handle the worst, then you don't need an amnio. My friend had one because she had levels to suggest down's and her baby was fine. So just do some soul searching to see what YOU want to do, and whatever you decide don't let anyone make you feel bad. God is there for us through everything.

May God Bless you in whatever choice you make.

YOU ultimately have to live with the decision the rest of your Life, regardless of the outcome. Only you and your husband know the intimate facts about your finances, insurance, religion and personal lifestyles.

Technology has come a long way. There are risks in everything we do. (Hey, up until 2 weeks ago, spinach was GOOD for us!)

However, you should make the decision SOON, as waiting only leads to more complications.

Hugs

I am not sure if anyone has given you this advice yet, but my prenatal nurse told me that if I was positive that if there was something wrong with the baby I would have an abortion then to go ahead and get the amnio, but if I was positive I would never get an abortion no matter what than not to have it done. I did not have the amnio and my daughter is 100% healthy! I was 24 when I was pregnant and the doctor told me that downsyndrome was highly unlikely anyway.

I hope this helps!

B.

I think that you should not get the amino But just take the info that they give you about what might be wrong and Learn about it ! With my 3rd child they told me She might be Downs and told me I should get a amino . I declined it I was scared but my mom works with special needs children. She told me that downs syndrom children are wonderful children. My mom knew of a person that had amino and they hit a nerve in the childs face. This child was fine but will now have to go through life with a a disability. I know this is scary. You will have to make some hard decisions and feel your way through this. The hardest thing is to wait. My daughter was fine when she was born. She did have a heart mumer and cist. She is now a beautiful two year old.She is very smart and seems healther than my three year old who has allergies. We will keep you in our thoughts.

I feel that God does not give you anything you can not handle and that every child is a blessing. Even if they did the Amniocentesis you could not change the out come of Downs. So you just have to ask your self is it worth it to you to do it. They suggested that with us and we decided we would take what God blessed us with and knew he would watch after us and our family. If they say they can do something now to help what ever condition may be there then that is another thing but to just tell you that your child has downs is not going to change anything. I will pray for you because I know that is hard.
C. W

S., My husband and I are Christians and our OBGYN wanted us to have genetic testing and the amniocentesis to make sure our baby boy was healthy with no problems. I refused it all since we know that God does not make mistakes and I don't think you can really be prepared for having a child with defects. You can prepare yourself with knowledge but never prepare mentally (even though you think you'll be prepared) or emotionally. Our youth pastor and his wife had a Down Syndrome baby and they said there is no preparation. My doctor even said that a lot of parents want to know just so they can make the decision as to whether they would want to terminate the pregnancy. I don't think this is how you feel though. As you go farther in this pregnancy with more ultrasounds they will be able to tell just by those without all the other tests with risks. I had a couple of scares with my pregnancy and every time they would do a stage 2 or 3 ultrasound the worries were gone. He's very healthy and perfect and no matter what the outcome with your own baby she will be perfect.

HI S.,
I think that doing or not doing the amnio is a personal choice, but there are other simple blood tests that could let you know one way or the other. Ask your doctor to check your blood for the cystic fibrosis gene. If you don't have it then the baby will not either. If you do then your husband should be tested. If he does not have it then again, the baby will not. If he does there is a 25 % chance the baby will have it, 50 % chance it will just be a carrier of the gene, and 25% chance that it will not have the gene at all.
As far as the Down's goes, have the triple screen blood test done, also ask about the 3-d ultrasound - it is usually found in the hospital for high risk pregnancies. There are characterisitic facial features that go along with Down's and that can be seen.
Good luck!!
J.

S.
When we found out we were having a boy the ultra sound showed dark spots in the baby's kidneys...another marker for downs syndrome. The dr. also suggested that we have an amnio. My husband and I decided to do it. It wasn't the most pleasant experience but it really wasn't that bad. Don't get me wrong, the needle does hurt but it is a very short procedure and you can get rapid results that are 80 percent correct in just 24 hours. After two weeks they can tell with 99 percent certainty if there are any genetic disorders with the baby. I think it is worth finding out.
You will want your hubby to go with you and you will want him to drive because you won't feel so great afterwards...I felt light headed, like I had just given blood. I rested for the whole day and I felt fine the day after.
Our baby is fine....no down's
Good luck!
C.

I will tell you that if God did not want you to be the Mommy of thismost special little one then he would not bless you in this way. I would not do the tests and just hold tight to the faith and love you have for her. You never know what she will become or how far she might go but if you do not do the tests then you can say for ever of your life I did NOTHING to interfere in her being...God bless you..

Sweety they have just told me nearly the same thing. I can definetly imagine how you feel. From all the people that I have asked about this...we are definetly not the only ones hearling this. 4 other girl friends of mine who are also pregnant about the same as we are have heard the same thing! They havent given me the option of the needle through the belly yet because we have an ultra sound to do still. It broke me apart when I heard this. Just stay relaxed and remember they arent always right. Pray and stay low stressed. If you need anything let me know. Good luck, and Im having a girl too! You will be ok, I promise.

I completely agree with you wanting to be prepared and know what to expect. If you have the amnio then you will know one way or the other and can do some reading and prepare mentally for the challenges that this might bring. Down Syndrome children are very loving and very sweet little kids and generally do not need to be treated any differently, however certain things are different and there could be other health issues and it would just be responsible on your part to have full understanding. There are risks involved w/ the procedure however with new technology and doctors becoming more aware of better ways to do the procedure your risks are somewhat less. I would definitely talk to you doctor and make sure that whoever does the amnio on your is experienced and has done several before you. I do wish you the best, and no matter what this little one will definitely be a blessing to you and your family.

S.,
I would ask the doctor what prep work you need to do at home for the worst case. That way you have your home ready and all is in order for her to come home. If things are not as bad as you are prepared to deal with then you are still prepared to give her the best care. You will love your child no matter what and God will only put on us what He knows we can handle. (even if at time WE think we can't handle it) My prayers will be with you and your family durning this time.
LOTS OF HUGS
M.

My daughter was born on June 9th and we went through a similar situation with her. It wasn't the bowels, but it was the thickness on the back of the neck as well as the prenatal screening blood tests. Both came back with very high numbers and a possibility of down syndrome. After much prayer, my husband and I decided to go ahead with the amnio. Everything came back ok and she is as perfect as I can tell. The amnio was not fun, and stressful for both my husband and I, but we recovered just fine. I don't know if this will help, but I have had several people tell me of similar stories and all of their babies have been just fine.

I have a 3 month old and experienced something very similar.

At my 18 week ultrasound they noted pylectasis (enlargement of the kidneys) which is also on the long list of "soft markers" for downs. I had to go for a level 2 ultrasound where I was told that the pylectasis had resolved but that they detected echogenic bowel (what I think you are describing). Again, noted as a soft sign for downs and possibly cystic fibrosis.

I chose not to do the maternal serum screening or the amnio. I had a follow up scan about 10 weeks later which showed that it had also resolved. My son was born healthy.

I am an adult nurse practitioner and did a lot of research regarding ultra sound markers and found that they are quite common and often don't mean anything, but as a healthcare provider, you are obligated (and somewhat legally bound) to offer these tests and recommend follow up for abnormals. All of these tests can be upsetting, and sometimes for no reason.

How you wish to proceed is up to you. Some people just need to know. After researching abnormal markers (which I recommend), I felt comfortable waiting for a follow up ultra sound. I did not want to jump to invasive tests. Also, I did not feel that the results would change anything. Good luck and try not to worry. I know it is hard.

I definately don't think that you should get the amnio. What good is it going to do? You will love your baby no matter what health issues it may or may not have. It may be hard, but God blessed you with this baby for a reason.

S.,

I had a friend that was told the same thing about her healthy little boy. She decided not to have the test because she was exactly like you going to keep it no matter what. The only thing that I could say if you have the test done is that you could be prepared for what ever comes your way. And to say that you could still be prepared by studing up on everything, that way you don't have to worry about miscarriage. I will keep you in my thoughts and prays. Please let me know how eveything turns out.
J. S.

Hi S.:

My name is G.. I have had an unusual experience like yourself but not in the same text as with whats wrong with your baby. In 1990, I had a little girl that was born with anencephaly, which means she did not have a brain. I was sent to the genetic clinic in B'ham but there was nothing they could do to save her. This was at my 3-month mark. The doctors told me that I could either keep her and go through with my 9 months or that I could terminate my pregnancy then. I chose to keep her. I couldn't get rid of her before I had to. It was very devastating to me. I was hoping to prove the doctors wrong, that there would be nothing wrong with her, but there was and when it was time, I went into labor (37 hours) later, she was born, but when she hit air, she died. I sure hope things go well for you, though. My next daughter I got pregnant with 3 months after this ordeal, I had to have an amnio done. The doctors told me the same thing about 1 in 300 being miscarried. The doctor performed the amnio and then told me to go home, lay down and relax for the rest of the day. Put my feet up, take a nap, whatever it took to relax. Things were fine after that. You are not to go and do anything strenuous or get stressed out after an amnio. When my 9th month came, I delivered a 10 lb 13 oz daughter, who was very healthy. The reason for their doing the amnio then was because of the problems I had with my first daughter. My daughter now is 15 y/o. She was born in August, 1991. Whatever you decide to do, I will pray for you. Give yourself to the Lord and he will help you through it. If you would like to talk to me about anything, I will be more than happy to talk to you. My home number is ###-###-####. Sometimes talking with someone helps that has been in a similar situation. If I can help you in any way, please do not hesitate to call me. Lots of luck for a beautiful and healthy baby girl.