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

[Notarangelo, Luigi]

Fetal blood sampling at 20-22 weeks of gestation has been often used for prenatal diagnosis of SCID. I would recommend testing for RBC size to distinguish fetal vs maternal blood, and to test for CBC w/diff, CD3/4/8/19/16/RA/R0 and PHA response. All of this can be done with 2 ml heparinized blood.

Luigi D. Notarangelo

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Luigi D. Notarangelo, MD
Jeffrey Modell Chair of Pediatric Immunology Research
Division of Immunology
Children's Hospital Boston
Professor of Pediatrics and Pathology
Harvard Medical School
Karp Building, Room 10217
1 Blackfan Circle
Boston, MA 02115

Tel: (617)-919-2276
Fax: (617)-730-0709


On Aug 24, 2012, at 1:22 PM, "Christine M. Seroogy, MD" <cmseroogy at pediatrics.wisc.edu<mailto:cmseroogy at pediatrics.wisc.edu>> wrote:


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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