title: Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation.
abstract: Trisomy 22 is commonly associated with severe intrauterine growth retardation and congenital anomalies. The sonographic identification of a complex cardiac defect and bowing of the long bones associated with multiple structural anomalies add new clinical informations to our knowledge about the prenatal phenotype of trisomy 22. These findings have not been reported previously and are of critical importance as sonographic signs of trisomy 22 may overlap that of trisomy 13-18 and will help clinicians in indicating fetal karyotyping. Prenatal diagnosis of trisomy 22 is essential as trisomy 22 is a lethal condition.
authors.affiliation: Department of Obstetrics & Gynceology, AUSL Reggio Emilia, Guastalla, Italy. Tonni.Gabriele@ausl.re.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Tonni
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
authors.forename: Pierpaolo
authors.initials: P
authors.lastname: Pattacini
authors.forename: MariaPaola
authors.initials: M
authors.lastname: Bonasoni
authors.forename: Bruno
authors.initials: B
authors.lastname: Ferrari
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000649:Amniocentesis; D001344:Autopsy; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D015203:Reproducibility of Results; D014057:Tomography, X-Ray Computed; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D016216:Ultrasonography, Prenatal / Q000379:methods*