Urgent Reply Requested - CVS & Mutation Studies (Quick Question pls)

Hi All,

Just a quick question pls. Can a 5 year old child (both parents beta Thal minor) who till now has shown no signs of paleness, lethargy etc be still be diagnosed as Thal Major at this age. Electrophoresis test has not been done as yet but just wanted to check if anybody could answer.

Thanks

No, a thal major would already be taking blood transfusions by age 5. If thal intermedia was present, you would have seen signs early on. I think if your child is a carrier, it is no more than minor if there have been no obvious signs to the contrary by age 5.

Thank You Andy !!

My wife is 6 weeks pregnant and this is our second child and as I mentioned in my previous post both me and my wife are Beta Thal Minors. In our first child's case we didnt know a thing about Thal and found out only at 32 weeks pregnancy but this time around we are more aware and would ensure to take all care to give a healthy life to our coming baby.

We met the gynaecologist today and she has started the routine medical tests, recommended a folic acid tablet daily and has also suggested to get a CVS done around 8-9 weeks of pregnancy.

I have a few questions pls.

1. Is CVS an accurate test to find out if the fetus is infected with major / minor or is not infected at all.
2. Is 8-9 weeks the right time to get this test done or is it too early.
3. Is is too cumbersome for my wife to get the test done? Would it be painful. Is there any risk.
4. Would amniocentesis be better or CVS be better for the accuracy of the result.
5. How much time does it take to get the CVS test done.
6. In how many days can the report be made available.
7. Upto how many weeks can the abortion be done legally in India.
8. Is it still important to validate the CVS test results with electrophoresis after the birth of the child or no need for that.

Kindly help with the answers. Will need more clarity later and will request answers for more questions later.

Many Thanks


 

I think you should have the electrophoresis done for your first child to learn if he is a carrier. This will be essential information for his own life. In a post awhile back you mentioned some testing while he was still in the womb. Were you told that he was a carrier at that time?

I will answer as much as I can. CVS is a safe reliable accurate test and should be done between 10-12 weeks for best accuracy. 8 weeks may be too early. In most cases CVS is all that is needed and amnio can be avoided. Women may feel some cramping during and after the CVS procedure. Results are usually available in about 10 days to two weeks. Ask for an electrophoresis at birth if not automatically done. In the US this is done at birth in most of the country. I believe that in most cases, 20 weeks is the latest that an abortion can be performed in India.
For more information about CVS and amnio, see
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/pregnant/tests.html

Hi Ginni,

I am sorry i am a bit late in answering.

1-CVS is an accurate test but there is a 2% chance of mistake that is accepted internationally.
2-CVS can be done in between 8 to 12 weeks.
3-It would be a bit painful,though local anesthetics are usually used,but after being through child birth i'd say its bearable .
4-Amniocentesis is done kinda late,at 20 weeks or so,baby starts moving at that time and parents get more and more attached,so i think CVS is better.
5-CVS test can be done with in 15 minutes,depends on the position of the baby and placenta.
6-Reprt is usually made available in 2 weeks.
7-i am sorry i am not aware of the legal limit,for us its before 16 weeks.
8-If it was up to me i'd definitely validate the test with an electrophoresis.

I am not a doctor or a medical pro,but all this info was provided to me by my doc when i went through CVS.

Hope this helps,

Zaini.

In India, the primary limit is 12 weeks - this is the limit for a "single opinion, good faith" abortion by the consulting gynaec.

Details here:
http://aiims.aiims.ac.in/aiims/events/Gynaewebsite/ma_finalsite/report/1_3_7.html

- Poirot

Thank You Zaini !! Appreciate your revert.

Just one more question on point 8 - Validating through electrophoresis can that be done immediately upon birth. Like I mentioned before as well the doctors suggested to wait till the child is about 6-9 months old for the electrophoresis test to be accurate.

Thanks

Hi Andy & Zaini

Have got the electrophoresis test done for my 1st child. Below is the report.

Thx

Definitely thal minor and I will reassure you that he will never be a major. He is a minor like his parents and should be equipped with this knowledge, so he can make proper decisions as an adult about having children of his own.

As far as when electrophoresis can be done, it is done at birth in many countries as a routine test to determine if the child is a carrier of any hemoglobinopathy. In fact, this is the best time to diagnose alpha thal trait, as the Hb Barts will disappear in the months after birth. It will also show levels of HbA, HbA2 and HbF that can be used to diagnose beta thal trait.

My doctor told me the same,to wait till the baby is 6 months old,so that the baby does not have mother's blood in the body.

Zaini.

Have been given the appointment in another 3 weeks time for CVS to be done. However today blood samples have been taken for me and my wife for thal beta mutation studies.

Can someone pls explain a little more about whats thal beta mutation studies and how will it help in co relating with the CVS report.

Thx
 

Hi Ginni,

They will check what mutations you and your wife have,and then they'll check if the baby has any or both of these mutations.

Zaini.

Ginni,

This test determines what type of mutation the lab will need to look for. If they r able to determine what each parent has, it is easier understand what to look for. My husband and I have the exact same 619 deletion. Its hard to explain but if they know what they r looking for they will get accurate results. Sometimes labs will need to dig deeper to find the deletion.  I know this because when we initially went through this my husband and I went to two different labs and it was shown that my results were neg for thal minor. Luckily my doctor caught this and realized the lab I went to was not able to perform the test needed. My husbands lab could so we had to redo the bloodwork and send to the other lab.

I don't know if that helps...

Have got the mutation studies done for me and my wife. The results are as follows

My Wife result : Fr 8-9
My result : 619 bp deletion

Cant make anything out of it and haven't been able to meet the doctor after that.
CVS has also been done yesterday and the results are expected in 10 days time. Have given out the mutation study report to the doctor who did CVS since they asked for it and mentioned that it would help in turning around the CVS report faster.