Meckel Gruber Syndrome Diagnosis

I am currently almost 16 weeks pregnant with my first child.  I had an emergency sonogram done at 14 weeks 1 day because I was having a lot of pain and they were worried about my reproductive organs.  After about 10 minutes in with the sonogram tech. we were asked to wait for the doctor to return from the hospital so that she could talk to us.  I wasn't expecting to see the doctor unless they found a problem.  After less than 20 minutes the doctor came in and told my husband and I that our baby had Meckel Gruber Syndrome.  The doctor didn't know much about it except that it was 100% fatal.  She couldn't even tell us what the chances of it happening again were.  We are going to see a specialist soon but I am wondering if anyone has had what I feel is a rushed diagnosis like this?

[Dragon1973]

Hello mksmom66,

I am saddened to hear this news.  I am however a bit worried, simply because it is very rare, and outside of normal protocols to make a definite diagnosis via the use of Sonogram alone.  A definite diagnosis usually can't be made unless an Amniocentesis is done. Before anything is done, and I stress this because many a time have pre-diagnosis been made through such diagnostic testing only to turn out to be incorrect.  Now, I do not know your fully medical history, what tests you have had done, and what your prenatal findings were.
As far as I am aware, MKS (the short form name for Meckel-Gruber Syndrome) tends to mimic the more common Trisomy 13 (unfortunately also most often fatal).
http://emedicine.medscape.com/article/946672-diagnosis
In this literature, they mention that is is imperative to rule out Trisomy 13 from MKS, simply because the recurrence rate for MKS is 25% for future babies (1 in 4) as opposed to T13 which has a 1% recurrence risk.  Which is what you were interested to know from your doctor.

It is strongly suggested that you also test yourself and your spouse for this genetic syndrome because the literature I have regarding MKS explains that BOTH the mother and father must have this gene, in order to be able to pass it on to the baby and for the baby to develop this syndrome.  I would suggest that in speaking with a geneticist, and if you are able to determine that either one or both of you do not have this genetic copy in you, that they look for another diagnosis.
http://rarediseases.about.com/cs/meckelgrubersynd/a/020804.htm
(This site explains why this genetic syndrome is so rare.)

Now, it is very important for me to pass on to you, that before you lose all hope, that you have a more definite type of testing done such as an Amniocentesis, which at 16 weeks you are eligible to have.  Also, I have done plenty of research on typically fatal genetic syndromes, and while for the most part nearly all those that are deemed to be fatal typically are either before birth or shortly there after, there are sites on the Internet, who support families who have children with these rare and fatal syndromes who have children who are near or older than teenage years and are still alive.  There are a lot of old and negative literature out there, that suggest the worst, and also do not look upon these syndromes in a favourable light.

I would definitely encourage you to seek a second opinion to do two things.  Verify this diagnosis properly, and get the important and necessary information if it turns out to be right.  I would also suggest that you get a Genetics Doctor, not just your OBGYN, and also speak with a Genetics Counsellor.  
It is necessary to speak to the geneticist if the diagnosis is correct after you have an Amniocentesis, because for future pregnancies, you will need to figure out how you would like to proceed knowing that you may carry a 25% recurrent risk for all future pregnancies.
Many mom's have had rushed diagnoses and they have been incorrect.  Not only is it out of common protocol to have one from a sonogram/ultrasound alone, but it causes mental stress and fears that you many not have needed to have.

I would like to offer you any support I can, regarding this situation that you are facing.  I am frightened about the way you have received this diagnosis, and yet I don't have all the information I am sure.  There is a lot to consider when walking into a genetics situation, and it is definitely unfamiliar territory for most people, even regular doctors and OB/GYN's.  
I have been designated a parent guide by the hospital near us here in Toronto, Ontario Canada for families receiving diagnosis of genetic abnormalities.  I have a son who was prenatally diagnosed with Down syndrome, and I do know first hand the struggles of receiving a diagnosis before birth.
I am curious, if you can tell me, what markers did they find on your sonogram which made the doctor abruptly tell you this diagnosis?
Please send me a direct message by clicking on my profile name in this message and choosing Send Message if you would like to chat with me directly.  I will get that sooner than your post here, but I always do check the post for responses.

PS- Your profile doesn't say where you are located, and it also mentions that you are male.  I would even suggest being able to call you to speak with you directly if you were close to my location, but I am not sure where you are from.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[Dragon1973]

Hello again Mksmom66,

I wanted to additionally add, despite my initial suggestion that an Amniocentesis should be performed, I did find in additionally researching that the use of Ultrasound in first trimester is used to assist in the diagnosis of MKS, as read here:
http://emedicine.medscape.com/article/946672-diagnosis
but there are other literature that do suggest that Amnio or CVS must accompany this ultrasound to provide a definite diagnosis.

I found a few additional site which I hope are useful for you going forward: (some you have likely found yourself)
http://en.wikipedia.org/wiki/Meckel_syndrome
http://www.wrongdiagnosis.com/m/meckel_syndrome/intro.htm
http://ghr.nlm.nih.gov/gene/MKS1

I am not sure if this will help or only serve to add to the confusion, but I am hoping this information will assist you in preparing for when you speak with your doctor again.

Please do let me know if there is anything I can help or support you with.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[Dragon1973]

Sorry Mksmom66,

One last piece of information (which you may already know) that I thought of to pass onto you, for your research, is that it was recently identified that MKS affects the 17th chromosome, and that is precisely the chromosome they will want to test in the CVS or Amnio.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[frmusany718]

There are a few genes that causes MGS many of them have not yet been identified, making Amniocentesis or genetic testing of the parents, not a option,because you don't know which gene you'r looking for. that's why usually an ultrasound done between 15 to 18 wks  is the only and most common way to diagnose MGS.

[cead]

frmusany718

That was an excellent post. You obviously know about MGS.  Thank you for sharing that.

I have been reading about obscure syndromes for almost 30 years now and MGS is a syndrome that I have never come across and am not at all familiar with, even by the mention of the name.  But you have piqued my curiosity to read more so, I will.


Dear mksmom66:

I am also saddened to read what you will have to go through.  I do not know about MGS but I will say a prayer for you and your baby.  

Cead