Trisomy 18 question...

  1. Hello there:

    I am a pre-nursing student who has been working in medical genetics for the last 6 yrs. I have worked in prenatal testing, reading mostly amnios but also some FISH testing and post-natal testing on newborns. Just curious, how many tri 18s do you typically see? How are they treated, since it is my understanding their life expectancy is very short? I am always so curious what happens to the abnormal cases we read. How this info is given to the family, the prognosis for the child etc. It drives me nuts when the directors at my lab get so 'excited' at the rare deletions, inversions, translocations, etc that come thru! I am always thinking...HEY there's a baby and a family at the other end of that diagnosis!!!! anyway, I'd appreciate the info!

    Thanks!
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  2. 15 Comments

  3. by   Gompers
    I work in a large level III NICU, and we probably see one baby a year with Trisomy 18. It might be more born at our hospital, but they don't usually send them to us if they don't have to. Most of the time the family knows beforehand, and the plan is to just take the baby home and do comfort care for however long the child lives.

    We did have some issues with a Trisomy 18 baby a few years back. His parents wanted him on an apnea monitor. Every time it went off, they'd bring him to the hospital and want everything done. We kept wondering how long it would go on - it was like interfering with nature in many people's minds. Eventually hospice got involved and we didn't see him readmitted again. I don't know what happened after that.
  4. by   catlover314
    We are a medium-sized unit and see maybe one every other year or so. We send these kids home with home health and the service sometimes evolves into hospice. I think that's a good route for the family as it helps them transition as their level of acceptance changes.
  5. by   KRVRN
    We see maybe one per year also (large NICU). But it's probably a little more prevalent since some are stillborn, some are terminated early on, some are given comfort care only and not admitted to the NICU, etc.
  6. by   prmenrs
    http://www.amazon.com/exec/obidos/tg...glance&s=books

    Smith's Recognizable Malformations.....

    See if you can find this book. It will be a valuable resource. The place you work may already have it, ask, or look in a medical library. Kinda pricey for you to get, but it tells you all about the outcomes of those mutations and deletions.
  7. by   BittyBabyGrower
    Same as KRVRN. The usually only live about an year, year and a half. We send them home with hospice. They are sad little babes.

    As for the genetics..they do get excited to see stuff like that, but that is their job.

    Any family that is identified with a baby with a genetic defect is sent to speak with a genetics doc and one of our attendings also sits in to tell them the course of stay, if the baby will live, how far we will take it, esp if it is a lethal condition.
  8. by   Gompers
    Quote from prmenrs
    Smith's Recognizable Malformations.....

    See if you can find this book. It will be a valuable resource. The place you work may already have it, ask, or look in a medical library. Kinda pricey for you to get, but it tells you all about the outcomes of those mutations and deletions.

    That is one of the best (and most upsetting) books I've ever seen. Just amazing how much can go wrong, it makes you wonder how it ever goes RIGHT!
  9. by   Kaseyrn2b
    Quote from Gompers
    That is one of the best (and most upsetting) books I've ever seen. Just amazing how much can go wrong, it makes you wonder how it ever goes RIGHT!
    I agree! I have seen some very strange things happen w/ those chromosomes...I was pg w/ my 2nd while working part-time, in the lab where I am now and pretty nervous until that 1st ultrasound!(DS was fine! 9 lbs and at birth, and still huge and healthy..he's 22 mos and 30 lbs now I was amazed and very thankful to have 2 healthy kids! The most upsetting cases that I've read have involved mosaic tri. 18.I think I 've only read 2 thus far. The life span is not known...could be yrs but generally very very low-quality of life even if, depending upon the precentage of normal cells. I can imagine that the unknown is terrifying to (esp) a new parent...thanks for the book recommendation! I may pick it up!
  10. by   Mimi2RN
    I think most NICU's and nurseries have a copy of the Smith book, aka the "Funny Kid" book. It's not one that's available for parents, though. Also we don't recommend it for pregnant nurses. It's hard enough being pregnant without adding fuel to the imagination!

    It'a fascinating when you go down the list with a new kid, and can figure out what is probably the syndrome.
  11. by   zambezi
    Some friends of ours just had their baby diagnosed with Trisomy 18...
    I can't even imagine...
    On the U/S it showed multiple, severe defects and I think that they are deciding to terminate. They are waiting one week just to get the results of the amio back to be sure...
    My heart breaks for them...
  12. by   prmenrs
    When (and if) you think it's appropriate, they should see a genetics counselor re: future pregnancies. The OB, hopefully, will make the referral.
  13. by   TiffyRN
    We see maybe one a year between 13 & 18 but it's usually the infants with unknown chromosomes as those with known trisomy 13/18 usually are counseled to keep the infant with them and take it home if it survives that long. The ones I know about would come to our unit with unkown chromosomes, have the FISH, if it comes back positive then the family is counseled about the severity of the condition and we offer to withdraw support. I've not seen a case where the family opted to continue support. I do know of one where the infant was on high frequency with all these drips and survived abrupt withdrawal, was placed in open crib and family allowed to stay with the baby full-time in a rooming-in room. Last I knew (still going on when I went on vacation 10 days ago) the infant was still alive, responsive in an open crib and plans were being made to send it home on hospice care. That would be the only trisomy 13/18 infant I've known in the last 3 years to survive past withdrawal of support.
  14. by   LilPeanut
    I was caring for a trisomy 18 2 weeks ago. Little girl, adorable. Last week she was on RA and not really needing any support and no As&Bs. She has a huuuuge VSD and is going home on hospice.

    It's really hard, because they don't have always such distinctive facial features and so they look fairly normal, and so your automatic thought is full care and surgeries etc, but then you realize all that's actually wrong with them.

    Definitely a very sad situation.

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