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Case Reports
Journal Article
Trisomy 22 with long spina bifida occulta: A case report.
Medicine (Baltimore) 2018 September
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.
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.
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