Trisomy 18 question...

[Kaseyrn2b]

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!

[LilPeanut, MSN, RN, NP]

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.

[minniemiteRN]

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.

I unfortunately came across this book by accident while I was pg with my first and working as a new nurse in my large unit. We had just received a "funny" kid and were looking up his symptoms/characteristics. Unfortunately I was already on edge due to the fact I was seeing what would/could happen if I delivered early and all that could go wrong in the process of bringing another life into this world. This book although very informative gave me nightmares. I have worked in my unit almost 3 yrs now and I think our prevelance is higher than most areas. I have seen at least 5 trisomy 21 one of which was mosaic, 3 trisomy18's, 2 trisomy 13's and several other oddities ranging from pierre robin, sticklers and treacher collins. :uhoh21:

[minniemiteRN]

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.

We had a 28wk trisomy 18 born to parents after several failed pregnancies and stillbirths. After extensive repeated counseling throughout course of stay parents wanted EVERYTHING done including HFOV and multiple drips at one point. Ended up going home with home health with and GT attempting to PO feed every other feed. She is now over a year old and only 10 lbs. I did hear recently that she was changed from home health to hospice.

[wannabeL&D73]

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

My understanding if it was "typical" T 18, that the risk of recurrence is 1 in 100 for all trisomies. But yes, I am sure the OB would suggest a genetic consult prior to a future pg.

Shannon