• Li Ma, Yunshu Ouyang, Qingwei Qi, Na Hao, Dachun Zhao, Yuxin Jiang, and Hua Meng.
• Department of Ultrasound.
• Medicine (Baltimore). 2018 Sep 1; 97 (39): e12306.

IntroductionComplete 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 ConcernsThe 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.DiagnosesThe fetus was diagnosed as having complete non-mosaic trisomy 22 by chromosomal analysis.InterventionsThe pregnancy was terminated at 24 weeks, and autopsy was permitted.OutcomesPostmortem examinations revealed additional long-sectional spina bifida occulta and imperforate anus.ConclusionsThis 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.

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