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

[Ochs, Hans]

I agree with Gigi,
A "periumbilical stick" at 20-22 weeks is possible and can be done relatively safely by an experienced obstetrician. Since you have a definite lymphocyte subset pattern, the analysis suggested by Gigi will identify an affected fetus. The best way to check for maternal blood contamination is by using the "Bethke-Kleihauer" staining for fetal hemoglobin, which is easy to do.
hans

Hans D. Ochs, MD, Dr. med
Professor of Pediatrics | Jeffrey Modell Chair of Pediatric Immunology Research
Center for Immunity and Immunotherapies
Seattle Children's Research Institute | University of Washington 

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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
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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
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