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Trisomy 18
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Trisomy 18

I had a baby that was born with Trisomy 18 and I didn't know until she was 6 days old... While I was still pregnant there were a lot of signs... My first ultrasound I had an abnormally shaped egg yolk and they told me that put me at increased risk for miscarriage, then at the next one they told me that she had a choroid plexus cyst, and then I found out that she had Single umbilical artery, and she was not growing like a baby is supposed to... I would like to know with all of these things that went wrong, should my doctor have done an amniocentesis so I would have known about this before I had her?
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Honey,
I am so sorry, I did not know that she had passed away.  I just read it in the comment you posted above to soggymoggy.  And, I do believe without a doubt that they should have done more testing, as I mentioned when they told you about the yolk sac and umbilical cord they must have realized that these are soft markers, and this is exactly what they look for in these early sonograms.  I know it wont change anything now that she's gone, but you are right in that if you had have known you could have been better prepared, and that is something I post about commonly why I recommend women who have soft markers get an Amniocentesis, because it does enable the parents to learn, research and make appropriate decisions.  I do understand other's posts that have said to you that knowing now wont change anything, but you already have said you knew that.  I would feel the same as you do, I would have been asking questions such as why, why weren't you advised to do more in terms of testing.  They did definitely know something was up if they spent at least 30 minutes concentrating on her heart.  With my son, (Down syndrome) they saw an EIF (bright spot on his heart) and because of that, spent many many monthly ultrasounds looking and looking at his heart.  The odd thing was, even a fetal echocardiogram told us that his heart was fine, as far as they could see, but we learned after his brith that he had an 8 mm hold, ASD.  We were shocked, literally since we had done so many high level ultrasounds, and focused a lot of our time and energy on his heart to see if there were any problems since we knew that 40-60% of babies born with Ds have heart defects.  So, if they were concentrating that hard on her heart, and didn't know she had T18, then they definitely saw something, and whether it was a hold or not, they spent lots of time on hers.  Normally in routine scans, they spend only moments on the heart, so long as they don't see anything which causes alarm, they move on.  The do the normal measurements, the Doppler, and the fetal heart rate.  I don't think you are being paranoid at all.  I think, even in times of grief, you are wondering why you were not afforded better options, and I think that is quite normal.  I don't think anyone should or could judge how you are feeling, and more over what you should do about it.  
And, even if they saw things that they thought were separate issues, the number one thing I was told was, having more than one marker and the type of markers combined usually does indicate a more serious problem, such as a trisomy or other genetic abnormality.  I have many sites that speak of this very concern.  It is explained that when there is only one marker, absent of any other ones, the concern for genetic abnormalities can be ruled out.  When there are more than one soft marker, it has to be considered a concern, and high level ultrasounds should be recommended, and also genetic counselling should be referred to the patient.  So, I think your thoughts are right on track.  It makes me wonder, how many other parents are having to go through what you went through not knowing, when honestly in my opinion, something should have been done or offered.  
It would be interesting to know, did they share any of the ultrasound findings with you on report, after they were done?  Or did this all come to light after the fact?  When my son was prenatally diagnosed at 16 weeks, I asked for every one of his ultrasounds from day one to the last one.  I wanted to know why nothing had been detected before hand, since his NT scans were said to be normal, or no one said anything about them.  When I got a hold of them after, I read the reports and they were elevated but still within normal limits, and nothing was told to me.  His ultrasounds at week 18, showed nothing unusual, but after I got the diagnosis, magically the next set of ultrasounds showed the EIF, or bright spot.  Oddly that wasn't seen two weeks previous.  So, I too wonder, what would have happened if I didn't have the Amnio.  I would have been surprised at birth, I am sure of it.  None of the markers that were found, were ever seen before the amnio.  So, I often tell moms that having no markers on an ultrasound doesn't mean anything either.  One mom tells a story of how ALL her ultrasounds and blood work were normal, and she was blessed with a baby who had Down syndrome.  So I guess there is the other side of things where, even if they didn't actually see anything, it could be because they honestly didn't see anything, but that tells me that they didn't look hard enough, since that is what I feel happened with my sons first few ultrasounds.  If that isn't true, then why is it the few markers he had suddenly came to light after I told them that he was Dx'ed with Ds via Amnio....?
Is there anything that you plan to do now that you are thinking they should have offered you something further?  I would say this, if it is important to you to take it to the next level, then I would say do so.  (In your shoes, I feel that I would.)  If you aren't, I would say, worrying about it will only cause you more grief, if in the end you aren't planning to do anything about it.  Ultimately, at the end of the day - if you aren't planning to seek out why they didn't follow up further, I wouldn't put yourself in a position of stressing more over it.  It wont help you to stress more.  But, like I mentioned, if you are going to do something about it, (And I definitely would so that others don't fall into the same situation as yourself - but that would be my path) then I feel your questions are justified no matter what.  And in any case, your emotions and questions are justified plain and simple.
I have a few sites as reference that talk about "protocols" when markers such as the ones you talked about are found, if you are interested.  If not, I completely understand.  If you would like them, please message me directly.  I am available to chat at any time, and I would like to offer my ear if even just to vent.  No loss should be considered unimportant, and your daughter is resting well because of your love and care while she was with you.  

I hope that even if you aren't doing anything "legal" about your situation, that you know I am here for you for anything even just to chat.  Send me a message anytime.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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The decision to recommend an amniocentesis is a complex one for a doctor, because it's not without risks in itself.  It is typically offered to women over 35 or who have a history or chromosomal abnormalities, but may also be offered where there is an abnormal ultrasound scan.  The difficulty is that if you were already held to be at increased risk of miscarriage, an amniocentesis would be dangerous because it carries a risk of miscarriage too.  The parents' ethical values also affect the decision, as if they are against abortion anyway there's no point in risking miscarriage by doing the amnio.  In the circumstances you describe I would hope that your doctor would have discussed with you the risks of an amnio versus the risks of leaving the baby's condition undiagnosed.

I'm going to make a guess here (if I'm wrong, please disregard the following).  I'm guessing that you're the father of the baby rather than the mother, and you feel blind-sided by the diagnosis of trisomy 18.  I think your partner had some medical appointments without you, and you're wondering if an amnio was recommended and you weren't consulted.

Again, I could be completely wrong in my guess - but if I'm right, you have two options. You can ask your partner, in which case you need to keep in mind that her answer won't change your situation now and may only make you angry to no purpose. OR you can leave it, accept the situation, and work with your partner to make your little girl's life as happy and fulfilled as possible.

Best of luck. xx
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Hello Ejbraelyn,

This is a tough question to answer.  In findings such as yours, abnormally shaped yolk sac, single umbilical cored artery, and choroid plexus cyst, these are definitely soft markers for a chromosomal abnormality.  I would have definitely suspected that your doctor would have recommended some additional prenatal testing.  But as the previous post above mentioned, testing like Amniocentesis and others are typically not recommended without reason until the mother is 35 years of age and or has other high risk factors/reasons.  The reason we have early sonograms are to determine risk factors associated with chromosomal abnormalities.  What concerns me is that when they saw the yolk sac, and suggested that the pregnancy may end in loss, they probably should have at that time suggested more definitive testing.  
At the least, an amniocentesis would have confirmed the diagnosis of the usual Trisomys (13,18, 21).  And would have afforded you the chance to do some research and make decisions accordingly.
I do not like to be the bearer of sad or negative news, but the reality is this.  Since there are children who do live beyond the first few weeks of life, and there are some known to live even beyond the typically stated limit of life, you need to do everything you can in your power to provide comfort and support to your child.  It is hard when you learn about this after birth, and there is most definitely a grieving period.  Know that it is perfectly normal and okay to grieve the loss of the "typical" child.  It is also okay to ask why and also to wonder if someone didn't do everything they could to prepare you for this eventuality.  I am not sure if even if you are able to say, the doctors should have done this or that, that it will help, but it may serve to ease your understanding.  I have been studying genetics for quite a while now, and I am a parent of a child with Trisomy 21 (Down syndrome).  I am a parent guide designated by the Hospital in our city to help prepare parents who learn of prenatal diagnosis.  If there is anything I can do to help, support or educate, please let me know and always you can send me a message directly.

I am not sure if you are aware at this point (I am hoping the doctors have referred you to a genetic specialist) but in most cases, Trisomy's 13 & 18 are not usually compatible with life, and thus many miscarriages happen even before the baby is born.  
If a preganncy continues to term, there is a high risk and probability that the baby may not do well, and many do not survive lengthy periods.  NOW, this isn't always the case, but I am hoping that if it is a definite Trisomy 18 (Edwards syndrome)  confirmed by genetic testing that you are or have been made aware of these sad possibilities.
Important points
I refer you to some information to read, if you haven't already read about this chromosomal abnormality:

    * Trisomy 18 (also known as Edward syndrome) is a chromosomal condition in which all or a part of chromosome 18 is present in the cells of the body three times (trisomy) rather than the usual two times

    * The syndrome impacts severely upon intellectual and physical development

    * Appears to affect females three to four times more frequently than males
    * Occurs in about 1 in 5,000 to 1 in 7,000 live births
    * About 1% of all recognised miscarriages occur in association with trisomy 18

    * Of all babies born with the extra copy of chromosome 18, 50% do not survive one week of age and 90% do not survive past the first year of life
    * The chromosomal problem in trisomy 18 is due to an egg cell or, rarely, a sperm cell that is formed containing one copy of each chromosome and an extra copy of chromosome 18, ie. 24 chromosomes rather than 23. When that egg combines with sperm containing the usual 23 chromosomes, the baby conceived has 47 chromosomes in the cell of their body rather than the usual 46
    * When there are three copies of chromosome number 18 in all of the baby's cells, the condition is referred to as trisomy 18. The presence of the extra chromosome causes the mental and physical characteristics of the syndrome
    * When the extra copy of chromosome 18 is only in some of the baby's cells due to a mistake in cell division occurring soon after conception, the chromosomes in the cells of the baby may show two different patterns: some cells with 46 chromosomes and some with 47: mosaic trisomy 18. The range and severity of symptoms depends on the number and distribution of cells containing the extra copy of chromosome 18. Mosaicism is discussed in more detail in another portion of this information.
    * The chance for having a child with trisomy 18 increases with the mother's age

    * If a woman has had a child with trisomy 18 there may be a small additional increase in risk over her age risk for having another child with the condition

    * Screening and diagnostic testing (where indicated) for trisomy 18 is available in pregnancy
    * It is highly recommended that a pregnancy be made on an informed basis following counselling

Trisomy 18 (also known as Edward syndrome) is a chromosomal condition in which all or a part of chromosome 18 appears three times (trisomy) rather than twice in cells of the body (see later). The syndrome

    * Appears to affect females 3-4 times more frequently than males
    * Occurs in about 1 in 5,000 to 1 in 7,000 live births
    * About 1% of all recognised miscarriages occur in association with trisomy 18

The survival of infants born with trisomy 18 will depend on how severely they are affected. Studies conducted since the mid-1980s indicate that of all babies born with trisomy 18

    * 50% died by one week of age
    * 90% did not survive past the first year of life

Therefore while less than 10% survive the first year of life, some children live well past the first year.

As I mentioned above, I do have more information for you, if you wish to have it.  There are many options still open to you with regards to your child and their continuing health.
I am at your disposal at anytime.  Even if just for a shoulder to lean on or ask questions.
If you do send me a message directly, please remind me of your post, as I do get a lot of questions regarding Genetics directly to my Inbox.  

If anything, please ask your doctor to refer you to the genetics counsellor and also someone to advise you on how to proceed.  (If you haven't already).  And, lastly - your baby is still your baby and needs you 100% just as any other baby does.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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I am actually the mother and no I didn't realize that it said i was a male. The father did attend ALL of the doctors appointments though and we were never offered an amniocentesis. I made it all the way to 37 weeks and then my doctor suggested that we do a c-section. I understand that an amnio would had increased my risk for a miscarriage but even without the amnio and all the things that went wrong I feel like a diagnosis should have been made before hand. Oh, and I guess I should have mentioned that she passed away when she was 2 weeks old and we did do lots of research, and gave her all the love we had. Because we were so unprepared with this we missed a month of work and are in horrible debt with bills and funeral arrangements. The only thing that makes me mad is how unprepared we were financially and emotionally.
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As I stated above, she passed away when she was two weeks old on June 10, 2010. It's not that I can change anything, it's just that we would have been more prepared and been able to deal with the initial grief before she was born, instead of thinking that she was ok and we were going to be able to bring her home. Instead we find out when she's six days old that she has Trisomy 18 and an ASD and VSD, two holes in her heart. When she was six days old we were already thinking about what kind of service we wanted to do for her if she died. It is still extremely hard, I just feel like I would have been able to accept it better if I would have known before she was born and with everything that was wrong while I was pregnant I feel like we should have at least been warned that there could be something wrong with her, but instead that acted like all these things were normal thing. Maybe they were, separately, but all put together they should have know something was wrong. Not only that but on my last 2 doctors appointments they concentrated on her heart for at least 30 minutes each time. That made me real nervous, so that makes me think that they knew more than what they told me. I don't know maybe I'm paranoid, but I feel like I was misinformed until the last minute. I have a website for her that we made on caring bridge if you would like any additional information. http://www.caringbridge.org/visit/braelynbrown/mystory
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Honey,
I am so sorry, I did not know that she had passed away.  I just read it in the comment you posted above to soggymoggy.  And, I do believe without a doubt that they should have done more testing, as I mentioned when they told you about the yolk sac and umbilical cord they must have realized that these are soft markers, and this is exactly what they look for in these early sonograms.  I know it wont change anything now that she's gone, but you are right in that if you had have known you could have been better prepared, and that is something I post about commonly why I recommend women who have soft markers get an Amniocentesis, because it does enable the parents to learn, research and make appropriate decisions.  I do understand other's posts that have said to you that knowing now wont change anything, but you already have said you knew that.  I would feel the same as you do, I would have been asking questions such as why, why weren't you advised to do more in terms of testing.  They did definitely know something was up if they spent at least 30 minutes concentrating on her heart.  With my son, (Down syndrome) they saw an EIF (bright spot on his heart) and because of that, spent many many monthly ultrasounds looking and looking at his heart.  The odd thing was, even a fetal echocardiogram told us that his heart was fine, as far as they could see, but we learned after his brith that he had an 8 mm hold, ASD.  We were shocked, literally since we had done so many high level ultrasounds, and focused a lot of our time and energy on his heart to see if there were any problems since we knew that 40-60% of babies born with Ds have heart defects.  So, if they were concentrating that hard on her heart, and didn't know she had T18, then they definitely saw something, and whether it was a hold or not, they spent lots of time on hers.  Normally in routine scans, they spend only moments on the heart, so long as they don't see anything which causes alarm, they move on.  The do the normal measurements, the Doppler, and the fetal heart rate.  I don't think you are being paranoid at all.  I think, even in times of grief, you are wondering why you were not afforded better options, and I think that is quite normal.  I don't think anyone should or could judge how you are feeling, and more over what you should do about it.  
And, even if they saw things that they thought were separate issues, the number one thing I was told was, having more than one marker and the type of markers combined usually does indicate a more serious problem, such as a trisomy or other genetic abnormality.  I have many sites that speak of this very concern.  It is explained that when there is only one marker, absent of any other ones, the concern for genetic abnormalities can be ruled out.  When there are more than one soft marker, it has to be considered a concern, and high level ultrasounds should be recommended, and also genetic counselling should be referred to the patient.  So, I think your thoughts are right on track.  It makes me wonder, how many other parents are having to go through what you went through not knowing, when honestly in my opinion, something should have been done or offered.  
It would be interesting to know, did they share any of the ultrasound findings with you on report, after they were done?  Or did this all come to light after the fact?  When my son was prenatally diagnosed at 16 weeks, I asked for every one of his ultrasounds from day one to the last one.  I wanted to know why nothing had been detected before hand, since his NT scans were said to be normal, or no one said anything about them.  When I got a hold of them after, I read the reports and they were elevated but still within normal limits, and nothing was told to me.  His ultrasounds at week 18, showed nothing unusual, but after I got the diagnosis, magically the next set of ultrasounds showed the EIF, or bright spot.  Oddly that wasn't seen two weeks previous.  So, I too wonder, what would have happened if I didn't have the Amnio.  I would have been surprised at birth, I am sure of it.  None of the markers that were found, were ever seen before the amnio.  So, I often tell moms that having no markers on an ultrasound doesn't mean anything either.  One mom tells a story of how ALL her ultrasounds and blood work were normal, and she was blessed with a baby who had Down syndrome.  So I guess there is the other side of things where, even if they didn't actually see anything, it could be because they honestly didn't see anything, but that tells me that they didn't look hard enough, since that is what I feel happened with my sons first few ultrasounds.  If that isn't true, then why is it the few markers he had suddenly came to light after I told them that he was Dx'ed with Ds via Amnio....?
Is there anything that you plan to do now that you are thinking they should have offered you something further?  I would say this, if it is important to you to take it to the next level, then I would say do so.  (In your shoes, I feel that I would.)  If you aren't, I would say, worrying about it will only cause you more grief, if in the end you aren't planning to do anything about it.  Ultimately, at the end of the day - if you aren't planning to seek out why they didn't follow up further, I wouldn't put yourself in a position of stressing more over it.  It wont help you to stress more.  But, like I mentioned, if you are going to do something about it, (And I definitely would so that others don't fall into the same situation as yourself - but that would be my path) then I feel your questions are justified no matter what.  And in any case, your emotions and questions are justified plain and simple.
I have a few sites as reference that talk about "protocols" when markers such as the ones you talked about are found, if you are interested.  If not, I completely understand.  If you would like them, please message me directly.  I am available to chat at any time, and I would like to offer my ear if even just to vent.  No loss should be considered unimportant, and your daughter is resting well because of your love and care while she was with you.  

I hope that even if you aren't doing anything "legal" about your situation, that you know I am here for you for anything even just to chat.  Send me a message anytime.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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I did know about all of the ultrasounds and findings as they found them. I did have an advanced ultrasound when I was 28 weeks i think and they thought they saw a hole in the heart, but after looking at the u/s for another 30 or more  minutes they ruled it out. I just don't understand how i even had an advanced u/s and they couldn't see one hole much less two. I was thinking about getting some legal advice, that's why I posted this question. I debate b/c I don't want to feel like I'm making money off of my babies death, but me and my b/f talked about it and if we were to win a case then we would donate a large sum of the money to NILMDTS. They done a wonderful thing for us and we will be forever grateful for their services. As you stated above, no parent should have to go through what we went through, and I think something needs to be done to make sure that this doesn't happen to anyone else. We tried to have Braelyn, she was no mistake! We were extremely excited, my boyfriend went to all of my doctors appointments with me, he never he missed one, he even went to a WIC class with me, and all of our dreams got crushed in one day. It's just not fair. A lot of people out there don't even deserve kids or take care of their children, yet the people that want them the most get screwed. I can't even walk in her nursery and she never even got to sleep in her crib. I am grateful that we got to spend every minute that we could with her. The NICU she was in was great and they had a pull out couch, so we could stay the night, and we got special treatment because of the circumstances. They wanted to do surgery on her when she was 7 days old because on the same day we found out about the Trisomy we also found out that she had malrotation of the intestines. We refused the surgery. Why would we do that when it was gonna fix everything else. Initially we just wanted to get her home, so we could be a normal family. We took her home at noon on June 9. She has a broviac catheter in her leg that gave her lipids and electrolytes and we had to learn how to mix the bag and hook it up to her. We are proud of our baby. She went through a lot and we gave her every ounce of our love and attention. She died that same night June 10 at 3:00 am. Me and my boyfriend were supposed to be taking shifts. She was asleep in my arms and I dozed off for maybe 30 minutes and she was gone. On one hand I kind of blame myself because I fell asleep but on the other hand there was probably nothing either one of us could have done, and at least she passed with her mommy holding her. I think, I wish I would have had just one more day, but then it would never be enough I would still be wishing for one more day. We both held her for about an hour and a half before we even called anyone. This was our first child and it really hurts. It wasn't supposed to be like this.
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You know, I think you are truly brave, and no mommy ever wants to hear that when she has lost her child.  I am sitting here with my son, with tears in my eyes, reading your last post.  I think what you are doing today going forward is the right thing to do.  It matters not at the end of the day the reasons why you are going to consult with a lawyer, but to know that you hope no one else has to suffer this way, is truly important.  
There was nothing else you could have done, and even if you dozed off, know that nothing would have changed the fact.  She did pass peacefully in her mommy's arms, a place many of wish we could go in times of pain or death.  You are absolutely right too, IT ISN'T SUPPOSED TO BE LIKE THIS.  And I too get angry when I think of the many people who carelessly have children that they claim they don't want.  I know at the end of the day, I am no one in a position to judge, but I can't help but have had my feelings just as you do yours.  When we first learned about Hunter having Down syndrome, I did ask the questions "why" and "why me", I at first selfishly thought that things like this don't happen.  But I know now, and have never stopped feeling this way since that Hunter is a miracle for our family, and I feel that for him, there is no better family to be his family.  One thing is for sure, your daughter (even in all this grief and pain at the moment) will make you a better person, will make you realize how much life is worth living, and will humble you in a way you never thought possible before she came into your life.  I can't say I know your pain, I can only imagine.  I had my miscarriage on the 7th of June, this last month, and I feel emotionally changed the way you describe, I wish I could have had one more day, but you do sum it up properly - if one more day came, then we would ask for one more after that.
I think your donation, should you be awarded any money will be a wonderful one to make.  I would do the same.  When I mentioned that I would take a legal stand much like you plan to do, it is because of my background as a police officer of 13 years, so I truly do believe you are doing the right thing.  If nothing happens, then it very well may continue to happen over and over.
I hope that you have found a support group or that you have the support that you need to move forward and learn to be happy again.  
It does sound like you are very smart and capable, so I applaud you for all your efforts, and going forward, if you need any advice - if I can help, please don't hesitate to ask.  Again, my door is always open.

Take good care of yourself, and your spouse.  You need each other right now and as the future comes.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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