Pediatric Heart Expert Forum
Pregnancy and DeGeorge Syndrome
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Questions in this forum are answered by pediatric cardiologists, cardiothoracic surgeons and anesthesiologists from The Children's Hospital of Philadelphia. This forum is for questions and support about pediatric heart problems, symptoms and topics such as heart murmurs, palpitations, fainting, chest pain, congenital heart defects (including management and intervention), fetal cardiology, adult congenital cardiology, arrhythmias and pre-participation athletic screening.

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Pregnancy and DeGeorge Syndrome

Hi! I was pregnant about 6 years ago and found out through ultra sound that my child had tetralogy of fellot and than amniocentesis showed DeGeorge Sydrome.  I went to specialists all over to see if there was any hope for my situation and the outcome didnt seem so good so I decided to terminate at 5 1/2 months.  I did not want to put him through any pain or him not have a good quality of life ever since most doctors really didnt know what was going to happen or how advanced he was was until birth.  I fight with the decision I made everyday of my life not knowing if it was right or wrong.  But deep in my heart I know that I did what I thought best for my child.  Now I do want to have a child but before getting pregnant I would like to know what are the chances of this happening again.  Can you tell me if you feel this could happen again and if so what are the chances of this happening.
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DiGeorge syndrome is linked to a known chromosome abnormality on chromosome 22 (microdeletion on the long arm).  When a child is found to have DiGeorge syndrome, the chromosomes of both parents should be checked.  If neither parent has it, then the chances of a recurrence are very small.  However, if a parent has it, then it is passed on in a 50:50 manner.  So the chance of a recurrence would be 50%.  So you need to know if you or your partner (who you had the child with) have this microdeletion.  You can have it even if you don't have the heart problems that your child did.  That information may be available to you, if you were evaluated by a genetic counsellor during the pregnancy 6 years ago.  If not, then it is a simple blood test and this important information can be easily found out.
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Jeffrey R Boris, M.D.Blank
The Children’s Hospital of Philadelphia
Philadelphia, PA
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Marie M Gleason, M.D.Blank
The Children’s Hospital of Philadelphia
Philadelphia, PA
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