Trisomy 22 with long spina bifida occulta: A case report. Issue 39 (September 2018)

• Record Type: Journal Article
• Authors: Ma, Li; Ouyang, Yunshu; Qi, Qingwei; Hao, Na; Zhao, Dachun; Jiang, Yuxin; Meng, Hua
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 97:Issue 39(2018)
• Publication Date: 2018-09
• Subjects: postmortem examinations -- spina bifida occulta -- trisomy 22; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000012306
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Introduction: Complete non-mosaic trisomy 22 is a fatal chromosomal disorder that only few fetuses can survive over 12 weeks as reported. Prenatal sonographic findings combined with postnatal or postmortem discoveries showed characteristic multi-systematic anomalies. Patient concerns: The unborn baby of a 35-year-old pregnant woman was found to have several anomalies during a prenatal sonographic scan, including intrauterine growth retardation, ventricular septal defect, flat facial profile, and unclear bilateral kidney structures. Diagnoses: The fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis. Interventions: The pregnancy was terminated at 24 weeks, and autopsy was permitted. Outcomes: Postmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus. Conclusions: This was the first time a case of spinal cord defect was reported in trisomy 22 fetuses. More attention should be paid to the spinal cord during sonographic examinations in trisomy 22 fetuses.