Trisomy 22 with long spina bifida occulta: A case report

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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.

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