title: A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study.
abstract: A prospective multicentre study was performed to identify patients with fetal choroid plexus cysts and examine the association between choroid plexus cysts and chromosome abnormalities in the context of variables such as maternal age, serum triple-screen results, race, other prenatally-identified fetal anomalies and cyst characteristics. A total of 18 437 scans were performed in 5 centres and 257 fetuses were identified with choroid plexus cysts. Outcome was available on 250 patients, and of these, chromosomal abnormalities were detected in a total of 13 (5.2 per cent) fetuses. 26 patients in the group had additional ultrasound abnormalities, and 8 of these had fetal chromosome abnormalities. Among the 224 patients with isolated choroid plexus cysts, 5 (2.2 per cent) were found to have chromosomal abnormalities. All cases with identified chromosomal abnormalities were associated with an additional risk factor, such as other ultrasound findings, advanced maternal age or abnormal maternal serum triple-screen results.
authors.affiliation: Duke University Medical Center, USA. brownt@labcorp.com
authors.forename: T
authors.initials: T
authors.lastname: Brown
authors.forename: M A
authors.initials: MA
authors.lastname: Kliewer
authors.forename: B S
authors.initials: BS
authors.lastname: Hertzberg
authors.forename: C
authors.initials: C
authors.lastname: Ruiz
authors.forename: T H
authors.initials: TH
authors.lastname: Stamper
authors.forename: J
authors.initials: J
authors.lastname: Rosnes
authors.forename: A
authors.initials: A
authors.lastname: Lucas
authors.forename: L N
authors.initials: LN
authors.lastname: Wright
authors.forename: N C
authors.initials: NC
authors.lastname: Chescheir
authors.forename: L
authors.initials: L
authors.lastname: Farmer
authors.forename: S
authors.initials: S
authors.lastname: Jordan
authors.forename: H H
authors.initials: HH
authors.lastname: Kay
mesh_terms: D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D002831:Choroid Plexus / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations / Q000097:blood / Q000175:diagnosis*; D025063:Chromosome Disorders; D003560:Cysts / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D009657:North Carolina; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D016216:Ultrasonography, Prenatal