title: The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis.
abstract: Early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17-week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X-negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagnosis.
authors.affiliation: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
authors.forename: M G
authors.initials: MG
authors.lastname: Butler
authors.forename: V G
authors.initials: VG
authors.lastname: Dev
authors.forename: D
authors.initials: D
authors.lastname: Shah
authors.forename: J E
authors.initials: JE
authors.lastname: Ulm
authors.forename: P L
authors.initials: PL
authors.lastname: Wilmot
authors.forename: L R
authors.initials: LR
authors.lastname: Shapiro
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D005260:Female; D005312:Fetal Blood / Q000166:cytology*; D005315:Fetal Diseases / Q000175:diagnosis*; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000166:cytology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*