title: Trisomy 18 in chorionic villus sampling: problems and consequences.
abstract: Among 1547 patients undergoing first-trimester prenatal diagnosis, 100 fetal chromosome aberrations were detected. Thirteen of these involved chromosome 18. In two structural abnormalities of chromosome 18, the aberration could be excluded in amniotic fluid cells and two healthy infants were born. Trisomy 18 was not confirmed in amniotic fluid cells in three trisomy 18 mosaics. In eight non-mosaic trisomy 18 first-trimester diagnoses, the diagnosis was excluded by amniotic fluid cells or fetal cultures in four, and confirmed in the remaining four. Diagnosis of chromosome 18 aberrations in the direct preparation should be confirmed in the long-term culture of the chorionic villus sample or by amniotic fluid cultures.
authors.affiliation: Abteilung für pädiatrische Genetik, Kinderpoliklinik der Universität München, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Wirtz
authors.forename: K P
authors.initials: KP
authors.lastname: Gloning
authors.forename: J
authors.initials: J
authors.lastname: Murken
mesh_terms: D000649:Amniocentesis; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005189:False Positive Reactions; D005260:Female; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D014314:Trisomy