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False‐negative prenatal exclusion of Wiskott‐Aldrich syndrome by measurement of fetal platelet count and size


Lorenz, Peter; Bollmann, Rainer; Hinkel, Georg Klaus; Mächler, Marco; Siegert, Gabriele; Stamminger, Gudrun; Wendisch, Jörg; Ziemer, Sabine (1991). False‐negative prenatal exclusion of Wiskott‐Aldrich syndrome by measurement of fetal platelet count and size. Prenatal Diagnosis, 11(11):819-825.

Abstract

The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott‐Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.

Abstract

The study of the fetal platelet count and size can, according to the literature, be used for the prenatal diagnosis of the Wiskott‐Aldrich syndrome (WAS). So far, no affected fetuses have been identified by this method. All pregnancies in which this method had been applied to resulted, as correctly predicted, in the birth of normal children. Here we report on a familial case of WAS where the haematological parameters failed to reveal the affected second child. Hence we assume that the platelet count and size of platelets remain normal in fetuses with WAS to the gestational age of 22 weeks and cannot be used for prenatal diagnosis.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Obstetrics and Gynecology
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Obstetrics and Gynecology, Wiskott-Aldrich syndrome, Fetal blood, Platelet count, Platelet size
Language:English
Date:1 November 1991
Deposited On:25 Oct 2023 15:19
Last Modified:30 May 2024 01:47
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0197-3851
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/pd.1970111103
PubMed ID:1754554
Other Identification Number:Corpus ID: 38160912
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