Trisomy 18 question...

Gompers, BSN, RN · Mar 11, 2005

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.

catlover314 · Mar 11, 2005

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.

KRVRN, BSN, RN · Mar 11, 2005

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.

prmenrs, RN · Mar 11, 2005

http://www.amazon.com/exec/obidos/tg/detail/-/0721661157/qid=1110577448/sr=1-1/ref=sr_1_1/102-2435050-2125740?v=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.

BittyBabyGrower, MSN, RN · Mar 11, 2005

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.

Gompers, BSN, RN · Mar 12, 2005

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!

Kaseyrn2b · Mar 13, 2005

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!

Mimi2RN, ASN, RN · Mar 13, 2005

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.

zambezi, BSN, RN · Nov 9, 2005

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...

prmenrs, RN · Nov 11, 2005

When (and if) you think it's appropriate, they should see a genetics counselor re: future pregnancies. The OB, hopefully, will make the referral.

TiffyRN, BSN, PhD · Nov 13, 2005

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.