[CIS PIDD] prenatal testing for SCID with unknown gene mutation

[Christine M. Seroogy, MD]

Dear Colleagues,

The mother of one of our SCID patients (T-B-NK+) is 10 weeks pregnant.  This was accidental and she would like to know what prenatal testing can be offered to help the parents determine if fetus is affected.  She is very keen to have early determination if possible.

The SCID patient had 0 TREC and absolute CD3# less than 300.  Fibroblasts were radiosensitive and extensive search for genetic mutation was unrevealing.

I am wondering if others have encountered this scenario and how it was approached?  How early can T cell enumeration or TREC analysis be performed with reliability?

Thank you,

Chris

Christine M. Seroogy MD, FAAAAI
Associate Professor
University of Wisconsin
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-9721

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