title: Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography.
abstract: Records of 24 pregnancies with fetal polydactyly were reviewed for the type of polydactyly, family history, associated sonographic findings, genetic testing, and postnatal/postmortem examination findings. The importance of fetal polydactyly can be mainly elucidated by the family history and absent or associated anomalies on a specialized malformation scan. Fetal karyotyping diagnoses frequent chromosomal anomalies in about half of cases with additional malformations, and array comparative genomic hybridization may be a future means of detecting cryptic chromosomal aberrations. Syndromic disorders of monogenic origin demand a careful interdisciplinary clinical assessment for establishing a clinical diagnosis and prognosis for the outcome of the child.
authors.affiliation: Division of Medical Genetics and Department of Biomedicine, University Children's Hospital, Burgfelderstrasse 101, Building J, 4005 Basel, Switzerland. isabel.filges@unibas.ch
authors.forename: Isabel
authors.initials: I
authors.lastname: Filges
authors.forename: Anjeung
authors.initials: A
authors.lastname: Kang
authors.forename: Jürgen
authors.initials: J
authors.lastname: Hench
authors.forename: Friedel
authors.initials: F
authors.lastname: Wenzel
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Bruder
authors.forename: Peter
authors.initials: P
authors.lastname: Miny
authors.forename: Sevgi
authors.initials: S
authors.lastname: Tercanli
mesh_terms: D005260:Female; D006801:Humans; D009693:Nucleic Acid Hybridization; D017689:Polydactyly / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D018570:Risk Assessment; D016216:Ultrasonography, Prenatal / Q000379:methods*