GENETICS COMMUNITY
CHromosome translocation

CHromosome translocation

Madam,

I am 30 yrs, married 9 yrs back, had miscarriage on af ew occassions between 1.5-2.5 months of pregnancy. Now I have my karyotype result as follws:

Chromosomal analysis revealed female karyotype with translocation of chromosomes 9 and 13, i.e   46, XX, t( 9; 13) (q13;q14.1) pattern in all the cells anlyzed. Prenatal diagnosis is mandatory in her all future perganancies. Genetic counselling is strongly recommended.

Kindly give me an advise if it is dangerous for me to have a healthy baby. Any treatment available?

Best regards,

Saf

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Hi Vision1,

I am not a doctor and in this forum I don't believe it's monitored by a MD.  You may have to ask an expert in that particular forum - however I have some information for you that may help you understand your genetic results.  I think only your geneticist van give you odds on a pregnancy and you should consult with them.

I in this site:  http://miscarriage.about.com/od/twoormoremiscarriages/p/balancedtranslo.htm
It tells you that when you have a balanced translocation it means that you have a partial gene which is attached to another gene in you case 9 & 13.  For you, you are unaffected but your pregnancies are commonly affected.  Because you pass on your genes to a pregnancy, you do run the risk of passing on a gene which may have a translocation.  It can cause certain problems within your pregnancy and ultimately end in loss.  It is suggested that you have genetic prenatal testing for all future pregnancies as you are aware.
There is a type of treatment available in which you opt to conceive via Invitro fertilization.  In this way they can analyze the gene structure to ensure no translocation is passed on.  This way is a more definitive route in that you will know if you are having a genetically "typical" embryo implanted rather than running the risk of testing every future pregnancy and having to terminate a pregnancy if the genetic make up is not favourable.

I am not sure if this will help you, but it was some information that I thought may give you some ideas on what you could do going forward.

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 Down syndrome Community Leader
& Ds Group Forum Founder/Moderator
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