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Antenatal Detection of Trisomy 22

Sonographic Findings

Antenatal Testing Unit, St. Joseph's Hospital and Medical Center, 703 Main Street, Paterson, NJ 07503.

Trisomy 22 (47, XX, +22), a rare chromosomal defect, was detected antenatally by chromosome analysis of the amniotic fluid after an obstetric ultrasound examination revealed multiple anomalies. The ultrasound findings included intrauterine growth retardation, holoprosencephaly, cleft lip, cardiac anomalies, decreased amniotic fluid level, and an abnormally thickened nuchal fold. Postnatal examination and autopsy confirmed the ultrasound findings.

Key Words: trisomy 22 • holoprosencephaly • nuchal thickening

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