title: False-negative prenatal exclusion of Wiskott-Aldrich syndrome by measurement of fetal platelet count and size.
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.
authors.affiliation: Institut of Clinical Genetics, Medical Academy Dresden, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Lorenz
authors.forename: R
authors.initials: R
authors.lastname: Bollmann
authors.forename: G K
authors.initials: GK
authors.lastname: Hinkel
authors.forename: M
authors.initials: M
authors.lastname: Mächler
authors.forename: G
authors.initials: G
authors.lastname: Siegert
authors.forename: G
authors.initials: G
authors.lastname: Stamminger
authors.forename: J
authors.initials: J
authors.lastname: Wendisch
authors.forename: S
authors.initials: S
authors.lastname: Ziemer
mesh_terms: D000328:Adult; D001792:Blood Platelets; D005188:False Negative Reactions; D005260:Female; D005312:Fetal Blood; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010976:Platelet Count; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014923:Wiskott-Aldrich Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics