Mosaic trisomy 8: a cautionary note regarding missed antenatal diagnosis.
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.
Southgate
W M
WM
Department of Pediatrics, Medical University of South Carolina, Charleston 29425, USA.
Wagner
C L
CL
Shields
S M
SM
Cantú
E S
ES
Pai
G S
GS
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*