title: [Prenatal diagnosis of full, non mosaic trisomy 22 in the third trimester].
abstract: A 31-year-old Caucasian women was referred to our department after IUGR was suspected by her gynaecologist at 29 weeks' amenorrhea in her second pregnancy. Multiple anomalies were detected by prenatal ultrasound in the 29th week of gestation. Chordocentesis was performed and revealed a Trisomy 22 in all fetal blood cells. The pregnancy was terminated. Post-mortem investigations excluded chromosomal mosaicism. Prenatal ultrasound findings and post-mortem features are presented.
authors.affiliation: Universitätsklinik für Frauenheilkunde, Abteilung für Pränatale Diagnostik und Therapie. Dieter.Bettelheim@akh-wien.ac.at
authors.forename: D
authors.initials: D
authors.lastname: Bettelheim
authors.forename: W
authors.initials: W
authors.lastname: Eppel
authors.forename: J
authors.initials: J
authors.lastname: Deutinger
authors.forename: G
authors.initials: G
authors.lastname: Bernaschek
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D000025:Abortion, Eugenic; D000328:Adult; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging*; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D014314:Trisomy; D016216:Ultrasonography, Prenatal
vernacular_title: Zur pränatalen Ultraschall-Diagnostik des Vollbildes der Trisomie 22 im III. Trimenon.