Thal minor parents pregnant again!

Me and my wife are both b-thal minors. In our first pregnancy, we got amniocentesis done which showed that our baby is thal minor. Our son now is 9 months old and we are extremely grateful to God. The road to amniocentesis, the wait period for the results was extremely stressful. We got preliminary results in 20th week and final in 24th week. We decided that any further pregnancies we will have would be IVF+PGD based.

Yesterday, my wife took the pregnancy test and that came back positive! this is an unexpected unplanned pregnancy and we are very stressed and not happy. We think she is in her 5th week.

We have 2 choices - either we terminate and not take any chance or get CVS done in 10th week. The results for CVS would take 4-6 weeks!! Could others help with their opinions ?

Thanks so much. I've always been very grateful that this website exists and we have friends all over the world to discuss.

I would really suggest waiting and getting the CVS, as long as you are currently prepared to take on another child.

The last time we got Amniocentesis done from Quest Diagnostics, it took so long for results. I recently read an article that CMC Vellore in India does it under one week.

Andy, Not sure why there would be so much difference. Is there anyway it can be requested from Quest that they give results faster ?

Are there other labs in US which does similar testing ?

Sumit,

This lab advertises preliminary results in a few days and final results in 10-14 days.
http://www.reproductivegenetics.com/cvs.html

Have you contacted Eileen at CAF? She may be able to refer you to a lab with quicker results,

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

Hi Andy,

I also spoke with Eileen. She mentioned that the typical time-frame for such testing is 4-6 weeks, as far as she knows. She didn't know off-hand other labs in US which do such testing.

I called reproductivegenetics (RGI). The 10-14 days is for chromozone testing (down syndrome). For Thalassemia testing, they send it to other labs and it would take longer. They don't do that testing in-home in their labs. RGI specializes in IVF/PGD. Btw, they mentioned that IVF/PGD is 95-98% accurate and they recommend a later CVS/Amniocentesis to confirm.

Hi Andy,

We are meeting the genetic counselor tomorrow regarding CVS. They already have my and my wife's b-thal mutations. I was planning on requesting them to do my alpha thal analysis too.

Any reason we should get my 9th month old son blood work done for CBC/Electrophoresis/DNA analysis ? We know from amniocentesis results that his thal gene mutation is similar to his mom's.

Thanks so much.

I see no reason for any further testing of your son at this time. I would suggest that you ask the counselor why test results take so long.

I'm surely going to ask them why it takes them so long while some labs in India can do the test in 7 days.

Andy, I'm going to ask them to analyze my alpha mutations too based on your suspicion in this post:
  http://www.thalassemiapatientsandfriends.com/index.php/topic,4068.msg40628.html#msg40628

Does that sound OK to you ? Thanks!

Sumit,

It may be worth checking. You have an unusual combination for a thal minor of the high HbA2 normally seen with beta minor, but no HbF which is unusual, but would be expected if alpha thal trait was also present. I tend to think alpha won't be found, but there seems to be a slim chance it may be present.