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  1. #1
    Registered User danielle112384's Avatar
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    Default Birth defect Trisomy 13 and 18

    Hey ladies,
    I just have a few questions for you. My little sister is pregnant with her second child and she is 13 weeks and 2 days along. She had her 1st trimester screening done last week, and some of the results came back abnormal.

    Her pregnancy hormone levels are supposed to be at 1 or higher and one of the levels was at 0.2, and the other 0.4
    Also they measure the pocket that goes from the baby's head to the spine and it was abnormally large, she also has a higher rate of the condition because of her age....

    Its all sooo confusing and sad...

    Basically they think that her baby might have Trisomy 13 or 18. Have any of you heard of it before? Its a genetic condition caused by too many chromosomes. It causes severe mental retardation, cleft lip and palate, renal problems...and the list goes on. She has to have an amniocentesis at 15 weeks and 5 days.

    Have any of you had any experiance with this?? She has had 1 miscarriage before so we are not sure if that baby had something genetically wrong with it too. I have PCOS, but she's never been tested for it??

    Any insite would be helpful

    Thank you gals

  2. #2
    Registered User kcal's Avatar
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    I am sorry that your sister is going through this. One thing to remember is that the test was only a screening and does not mean that there is necessarily anything wrong with the baby. The amnio will tell her for sure. My prayers are with her.

    Kim
    Me (36) DH (36)
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    Registered User Fleegle4's Avatar
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    I'm so sorry you're all going through this The only way you can truly diagnose something like this is with an amnio. While I know that this sounds rushed, if she is someone who would consider termination, she needs to get the test done ASAP in order to have some time to make a horrible decision and find someone willing to perform the procedure. Is there any way to get the amnio done earlier?

    For both of these conditions, it's unlikely that either is hereditary or repetitive -- they're some of the nasty (un)luck of the draw type anomalies. Most of us don't know what causes our early miscarriages -- I'm sure many of them would be trisomy conditions, as many early miscarriages are due to the fact that the chromosomes simply didn't combine "right"

    Hopefully this is all a big scare.

  4. #4
    Registered User danielle112384's Avatar
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    The doctor told us that when the chromosomes dont match up right, or there are too many its considered an "accident" its nothing the person did...its just what happened.

    They wont do the Amnio until 15 weeks and 5 days....so she is a sitting duck right now. I think she has decided that if the baby does have this abnormality she will terminate.
    We've been doing research and 90% of babies that are born with this don't make it to 1 year...and they have problems with just about every body system.

    Its a tough situation to be in....it was definently a shocker!!

    Thanks for the support ladies

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    Registered User Antigone's Avatar
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    So sorry for your sister T13 and 18 are really scary. It's a shame they didn't offer her Chorionic villius sampling. It can detect chromosomal problems like an amnio, but can be done earlier in the pregnancy, although some won't do it after 13 weeks. I can only imagine how difficult the waiting must be. Hoping for the best for her, it's true that these test results can be a false alarm.
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    Registered User KellyK's Avatar
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    A woman at our church had a baby with Trisomy 18. They gave her no hope of the baby's survival, but she chose to carry her baby to term anyway. Baby Hope did die before she was born and her funeral was sad, but they were glad they chose to honor her life.
    Kelly
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    Registered User draba321's Avatar
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    My husband's cousin had Trisomy 13. The saddest thing is that her parents had no idea that anything was wrong with the baby (not sure how the doctors missed it...) until his aunt gave birth. She had several birth defects: 6 fingers on each hand, a hole in her heart, cleft palate, and no nasal bone. She lived for 1 month and 3 days after her birth and that was longer than the doctors expected. I really hope your sister's baby is ok.

    I should also add that the doctors told them that it is sometimes can be passed through generations of families. My baby had a higher chance of having it due to it being on my husbands side of the family.
    Diagnosed with PCOS in 1999 at 17 yrs old.

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    Registered User pennykandy's Avatar
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    I agree with the pp, the screening is just a screening....not a diagnositc test....did they give here number for the chance that the baby has this?

    Mine came back elevated for Down's (Trisomy 21, similar but less 'severe' than trisomy 13 or 18) and they told me my odds were 1/28, so a 27/28 chance that the baby is normal.

    Good luck, hope everything is fine.
    Penny
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    Registered User wantingababybad's Avatar
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    Keeping your sister in my Prayers!!!

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    Registered User evelyn's Avatar
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    HI, i just lost a baby to trisomy 13 back in march. I didn't know of it at first, until i go the results of the D&C. Everything was fine and then on my 10 week scan, there was no heartbeat detected. I already have a child with a chromosome abnormality and the dr thinks it might be a follicle maturing defect, since both times i became pregnant on my own. I am pregnant again, and i am having the CVS down as soon as i can. I'm sure you've done your research, but basically, babies with trisomy 13 are not compatible with life. If born, they only live a couple of days. Its really sad, and unfortunate, but there's really nothing that she could have done to prevent it. I have come to terms with the whole idea of having another child with a chromo problem, and i know that i cannot handle one more with a problem. They need alot of special attention that i just cannot give two. So in my case, if my cvs comes back abnormal, i will have to terminate. I am keeping positive, as the dr said that as long as my follicles were mature at conception, there shouldn't be a problem, but theres always that doubt in the back of my mind. So sorry to hear that your sister is going through this and hope that her amnio comes back normal.
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    Registered User danielle112384's Avatar
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    Thats basically what the doctor had told her. If the baby lives at all he or she wont live long. These disorders are just terrible. She was going to have the CVS procedure done yesterday, but they did an ultrasound and told her she was too far along to have that one done.

    We are hoping for good news, thanks for your support and prayers ladies

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    Sticky Baby Smith!!! <3 Asherlexie's Avatar
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    At 18 weeks we found out our baby had a caotoid plexus cyst and it was a marker for trisomy 18 and downs. At 24 weeks the cyst did go away. But, we did make the decision that if the baby was going to born with either issue we were going to terminate. We are both Christians, but we didn't see it fair for the child to have to die with pain or live a miserable life. never love another or be a parent or anything like that. Our family gave us many problems while on a few understood. Just be there for her and stand by her side because for those several weeks, all I did was cry and feel alone. I know trisomy 18 is something do with severe defecets like someone mentioned above. Multiple or lack of fngers.. problems with joints and sever heart defects. i wish you the best and we'll be praying for your family!
    Austin (26) & Kimberly (24) Smith

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    Registered User mae012204's Avatar
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    this is a very hard situation and decision ur sister will have to make. my thoughts and prayers go out to ur sister through these hard times.
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    ~*Life is good*~ HRkswildcat's Avatar
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    Quote Originally Posted by danielle112384 View Post
    I think she has decided that if the baby does have this abnormality she will terminate.
    That makes me sad.

    I'm trying very hard to not pass judgement but it's difficult. After working so long with children who have special needs this makes me upset.
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    KS SoulCyster DanaJ's Avatar
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    I had a trisomy 18 baby a year and half ago. We found out at 14 weeks that we had 1/36 chance but the doctor looked me in the eye and said that the baby was showing some signs (fingers in a fist, two chords instead of three in the umbical chord). We had an amino and found out at week 15 that he did have trisomy 18. We prayed hard that we would get to meet him but he passed away at 30 weeks. I will say personally that I hated the waiting for the end but would never change the enjoyment of each kick and the closeness that I felt to Rowdy Michael. I know that while we didn't get to meet him, Rowdy made a huge impact on our family and community. I am thankfull that my four year old daughter tells people she has two brothers, 1 in heaven and Timothy.

    I am now expecting our 4th child. She is very healthy and my 1st trimester screaning came back 1/1,600!!!
    Dx with PCOS 1990
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    Rowdy Michael our Trisomy 18 baby that passed away at 29 weeks and born directly into heaven in 12/08 at 31 weeks.

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