title: Rapid prenatal diagnosis of Patau's syndrome in a fetus with an abdominal wall defect by 72 hour culture of cells from amniotic fluid.
abstract: A woman in the 32nd week of pregnancy was referred for investigation because of fetal abnormalities, including an abdominal wall defect, detected by ultrasonography. In view of the increased risk of chromosome abnormality, amniocentesis was performed to enable informed decisions about the management of the pregnancy and delivery to be taken. Cells from the liquor were inoculated into standard lymphocyte culture medium and incubated for 72 h. Slides with a high mitotic index and good quality metaphases, comparable to those from a blood culture, were obtained after harvesting. Cytogenetic analysis showed the karyotype to be 46,XY, - 14,+t(13q14q), which is consistent with Patau's syndrome. This technique appears to be an option for rapid karyotyping in cases of abdominal wall defect, where a chromosomal abnormality is suspected.
authors.affiliation: Cytogenetics Unit for Wales, University Hospital of Wales, Cardiff, U.K.
authors.forename: S H
authors.initials: SH
authors.lastname: Roberts
authors.forename: E
authors.initials: E
authors.lastname: Little
authors.forename: M
authors.initials: M
authors.lastname: Vaughan
authors.forename: M R
authors.initials: MR
authors.lastname: Creasy
authors.forename: A
authors.initials: A
authors.lastname: Jones
authors.forename: T G
authors.initials: TG
authors.lastname: Powell
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
mesh_terms: D000009:Abdominal Muscles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000649:Amniocentesis; D001921:Brain / Q000002:abnormalities; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007226:Infant Mortality; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000235:genetics; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013577:Syndrome; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal