When to test for chromosom translocation

I'm currently 19 weeks pregnant.I had an amnio two weeks ago and my genetic councellor called me yesterday indicating that the baby might have a chromosom translocation;but they can't complete the amnio test results becasue they need both me and my husband to get tested first to see which/IF any of us has chromosom translocation.

Why do they need us to be tested?They already got the amniotic fluid via amnio from the baby.Whether or not we have it,isn't good enough to have some fluid from the baby for the LAB.

They did not provide any details as to what kind of chromosom translation they identified.

I just need clarification as to WHY we need to get tested since amnio on the baby is already done.Is this a common practice for other genetic LABs?

Thnx in advance.


This discussion is related to balanced translocation.

[eureka254]

First of all, it's important to understand that the "labwork" on the amnio for all intensive purposes has been completed -- that's how they identified the presence of the translocation.  However, the interpretation would be unclear in your particular situation without further testing on the parents.  Balanced translocations can be inherited and passed on from parent to child, but sometimes they occur as a new translocation, called "de novo."  It is standard practice to test both parents when a balanced translocation is found in amnio or in an infant because it will provide important information on the possible origins of the translocation and other concerns related to balanced translocations.

The reason to test both of you is to help identify whether the particular translocation is coming from you or your partner, in which case it would be very reassuring that the baby would not have any problems.  Many people have balanced translocations that are not known until testing is done -- in other words, a balanced translocation does not exclude the possibility of your baby being healthy.

The other possibility is that the baby has a new translocation, not coming from either parent, but they would need to compare yours and your partners blood to the baby's lab results to be able to tell if that is the case.  Again, it does not mean the baby won't do well, but if it is a new translocation, then your genetic counselor may advise other additional testing as appropriate.  Hope that helps, and best wishes to you and yours.
~eureka

[eureka254]

First of all, it's important to understand that the "labwork" on the amnio for all intensive purposes has been completed -- that's how they identified the presence of the translocation.  However, the interpretation would be unclear in your particular situation without further testing on the parents.  Balanced translocations can be inherited and passed on from parent to child, but sometimes they occur as a new translocation, called "de novo."  It is standard practice to test both parents when a balanced translocation is found in amnio or in an infant because it will provide important information on the possible origins of the translocation and other concerns related to balanced translocations.

The reason to test both of you is to help identify whether the particular translocation is coming from you or your partner, in which case it would be very reassuring that the baby would not have any problems.  Many people have balanced translocations that are not known until testing is done -- in other words, a balanced translocation does not exclude the possibility of your baby being healthy.

The other possibility is that the baby has a new translocation, not coming from either parent, but they would need to compare yours and your partners blood to the baby's lab results to be able to tell if that is the case.  Again, it does not mean the baby won't do well, but if it is a new translocation, then your genetic counselor may advise other additional testing as appropriate.  Hope that helps, and best wishes to you and yours.
~eureka

[Dragon1973]

Hello Pumpernickelbred,

Eureka said it perfectly.  Here is a site for your reference that talks about Translocations, (Balanced and unbalanced - in Parent and or Child) in case you would like or need further clarification:

http://www.genetics.com.au/factsheet/fs7.asp#para_5

This site explains in detail many important points about Translocations and where they come from and how it may affect the baby.

I hope this also helps.

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

[pumpernickelbred]

thank you for both! We have an appoint. with our genetic counsellour tomorrow and hopefully we 'll learn more about what they found in my LO.

[lozzaj83]

Hi

I just wanted to point out - that I have recently been diagnosed with Balanced Translocation and I am perfectly fine! They can find this out from a standard blood test. They are currently testing my mum and dad to see if they also carry it or whether it's de novo in me.

[pumpernickelbred]

lozzaj83:

we did the blood work and I was also diagnosed with BT as well as my baby that I'm carrying now...

Good luck