Anyone heard of VADER(sp?)'s Syndrome?

Gompers, BSN, RN · Oct 21, 2004

Shall I keep y'all posted on their progress?

Definitely! It's a topic of great interest, at least for me!

rnmi2004 · Oct 23, 2004

Jan--what a wonderful research topic! I'd love to hear more about it.

One thing I have wondered is if the IVF permits conception with defective sperm and/or eggs that wouldn't normally last until fertilization under the "traditional" method of conception & therefore this is why the couple is infertile in the first place. Are there tests that these clinics perform on the ova & sperm that can detect irregularities at the chromosomal level?

Pediatric Critical Care Columnist · Oct 23, 2004

One thing I have wondered is if the IVF permits conception with defective sperm and/or eggs that wouldn't normally last until fertilization under the "traditional" method of conception & therefore this is why the couple is infertile in the first place. Are there tests that these clinics perform on the ova & sperm that can detect irregularities at the chromosomal level?

This topic was just in the news recently. They've noted a huge number of failed pregnancies and congenital anomalies in fetuses conceived through intracytoplasmic sperm inplantation (ICSI), where the technician actually injects a single sperm cell into an ovum to ensure fertilization. This technique is used primarily where the man's sperm count is so low that they can't obtain enough for the standard AI or IVF techniques. The theory is that the male's infertility is a result of the production of abnormal sperm, most of which die at some point in meiosis, giving them a limited number of slightly less damaged sperm which survive. I think the examination of these cells, both ovum and sperm, for defects is an on-the-horizon thing. The field of human genetics is in its infancy (no pun intended) and there are literally hundreds of projects out there looking at it from every possible angle.

One of the projects Amanda interviewed for (and was accepted to but turned down for practical reasons) is looking at X chromosome imprinting from a different perspective. How does the blastocyst decide which of those 8 cells become the fetus and which become the membranes, and how does it choose which X chromosome in the female embryo will be the one expressed? Did you know that it is possible for a blastocyst to contain some trisomic cells and some normal cells? It's also possible for the trisomic cells all to end up in the membranes while the fetus gets all the normal ones. Could you imagine being told after CVS that your baby will have a trisomy, deciding to go ahead with the pregnancy anyway and then having a perfectly normal baby? And how many "normal" female fetuses are being aborted because the membranes got all the abnormal cells? Boggles my mind! I'm learning so much from my daughter, the scientist. It really is a Brave New World out there.

dadoftwo · Mar 20, 2005

I was wondering if anyone has heard of VADER's syndrome? The letter are an acronym and I am not even sure what they stand for. Quite frankly, I am not even sure of the spelling...I am a new L&D nurse and yesterday we delivered a 31 wk'r by crash section who had spina bifida and many other anomalies. They ended up transferring her to another hospital and when the PANDA team arrived they were talking about how she might have VADER's. Any info would be helpful...I have been told that the syndrome is very rare any more due to prenatal testing etc.
Thanks!:)

My daughter has Vader's Syndrome. It's a condition where a child has 2 or more abnormalities. My daughter had TEF and Duodinal Atresia. Pre natal testing wouldn't have mattered b/c she was encased in 42 pounds of amniotic fluid. She was delivered at 32 weeks and we didn't know about the TEF until the dr's tried to insert her NG tube.

LilPeanut, MSN, RN, NP · Mar 21, 2005

OOooo! In my first nursing class last quarter, we actually discussed the whole thing with X inactivation, and that really, any woman at any point, might have slightly different genes expressing on different parts of her body.

So, if the genes for eye color were sex linked, you could have blue eyes, but if they examined your genes from a cell in your leg, the brown eyes could be expressed. They call the gene that controls X inactivation the "Xist gene"

I found the whole topic wildly fascinating. Here are some links I found hwen researching it.

http://members.shaw.ca/copingwithillness/xinact.html

http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/S/SexChromosomes.html

aggieteacher1979 · Nov 22, 2007

A very good friend of mine has a 12yo son with Vater syndrome. He has limb anomalies, vertebral anomalies, and esophageal atresia. He has had MANY surgeries and is scheduled for another in less than a week to lengthen his rods. On the bright side for this child, he is very intelligent and loving, has a wicked sense of humor, and was fortunate to be born into a loving, supportive family. Our community would have been a poorer place without this youngster.

rph3664 · Nov 22, 2007

Did you know that it is possible for a blastocyst to contain some trisomic cells and some normal cells? It's also possible for the trisomic cells all to end up in the membranes while the fetus gets all the normal ones. Could you imagine being told after CVS that your baby will have a trisomy, deciding to go ahead with the pregnancy anyway and then having a perfectly normal baby?

I had never heard of that! I'll bet that's where a lot of the false positives (or, for that matter, negatives ) come from.

Pediatric Critical Care Columnist · Nov 22, 2007

My daughter is working on a PhD in human genetics. Her specialty is looking for fetal anomalies in artifically conceived fetuses (pre-implantation screening). This information came from her; she's told me some really fascinating and equally scary things...

babynurselsa, RN · Nov 22, 2007

Cswain12000 has the acronym down for you.

I have seen 3 of thse children over the years.

It is a sad dx.

THe first one that I saw more than a dozen years ago, I was still in nursing school. There was little info out there. Incidentally I discovered that the gentisist that named the syndrome, Dr Say, was a local physician. I was able to call his office and one of his staff sent me some indo. THat was kind a neat sidenote for a stressed out lost nursing student.

walkingrock, ADN · Nov 22, 2007

i've seen a number of vater's over the years. i see it has already been discussed what it is, etc. fascinating the topic of ivf and anomalies....

RainDreamer, BSN, RN · Dec 1, 2007

My daughter is working on a PhD in human genetics. Her specialty is looking for fetal anomalies in artifically conceived fetuses (pre-implantation screening). This information came from her; she's told me some really fascinating and equally scary things...

I've always wondered about that .... fascinating stuff.

twinkletoes53 · Dec 4, 2007

I was wondering if anyone has heard of VADER's syndrome? The letter are an acronym and I am not even sure what they stand for. Quite frankly, I am not even sure of the spelling...I am a new L&D nurse and yesterday we delivered a 31 wk'r by crash section who had spina bifida and many other anomalies. They ended up transferring her to another hospital and when the PANDA team arrived they were talking about how she might have VADER's. Any info would be helpful...I have been told that the syndrome is very rare any more due to prenatal testing etc.
Thanks!:)

It is callled VATER association, or VACTERL association. The letters stand for

Vertebral anomalies

Anal Atresia ( imperforate orifice)

Cardiac anomalies

Tracheo-Esophageal fistula

Renal anomalies

Limb anomalies-commonly we see radial dysplasia.

An infant who is born and has 3 of the above anomalies is considered to have VATER's association. He may not have every one of the birth defects listed.

I work in a Level III NICU, and we have 3-6 of these infants/year.