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

[Cowan, Mort]

Chris,

I agree with Gigi and have done this quite a number of times over the years. There is a chance of fetal loss, however, so it would be helpful to know what the parents will do with this information. The phenotyping is easy to get on the small amount of blood that is usually obtained (<1ml) but unless you have a "micro PHA" assay set up, it maybe be difficult to get the proliferation done (especially if the fetus is lymphopenic!). 

Mort

Morton J. Cowan, M.D.
Professor of Pediatrics
Chief, Allergy, Immunology, and Blood and Marrow Transplant Division
UCSF Children's Hospital, Room M659
505 Parnassus Ave
San Francisco, CA 94143-1278
 
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-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Notarangelo, Luigi
Sent: Friday, August 24, 2012 10:29 AM
To: <pagid at list.clinimmsoc.org>
Cc: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] prenatal testing for SCID with unknown gene mutation


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

Sent from my iPhone

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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