title: Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis.
abstract: Chromosomal analysis of fetal cells is a commonly used, safe, and highly accurate procedure. The rate of false-negative results is unknown. Recent experience at four centers suggests that there may be a particular likelihood for mosaic trisomy 8 to be missed with routine antenatal diagnostic procedures. This report reviews these cases, the characteristic findings of mosaic trisomy 8, and the tissue-specific differential yield of chromosomal analysis that may contribute to the increased risk of missed antenatal diagnosis in patients with this disorder.
authors.affiliation: Department of Pediatrics, Medical University of South Carolina, Charleston 29425, USA.
authors.forename: W M
authors.initials: WM
authors.lastname: Southgate
authors.forename: C L
authors.initials: CL
authors.lastname: Wagner
authors.forename: S M
authors.initials: SM
authors.lastname: Shields
authors.forename: E S
authors.initials: ES
authors.lastname: Cantú
authors.forename: G S
authors.initials: GS
authors.lastname: Pai
mesh_terms: D002898:Chromosomes, Human, Pair 8; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism / Q000175:diagnosis*; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis*