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February 1973

Prenatal Diagnosis of Trisomy 18: Pathologic Findings in 20-Week Conceptus

Author Affiliations

New York
From the Department of Pediatrics (Drs. Hsu and Hirschhorn, and Ms. Dubin), Division of Medical Genetics, and the Department of Pathology (Dr. Strauss), Division of Pediatric Pathology, Mount Sinai School of Medicine of the City University of New York, New York.

Am J Dis Child. 1973;125(2):290-292. doi:10.1001/archpedi.1973.04160020098020

Prenatal cytogenetic diagnosis of trisomy 18 was followed by induced termination of a 20-week pregnancy in a 40-year-old multipara; the fetus had recognizable phenotypic stigmata of trisomy 18. Among external anomalies, those of the ears and hands were most apparent. Internal anomalies included ventricular and atrial (ostium II) septal defects, bicuspid aortic valve, abnormal configuration of liver, umbilical hernia, Meckel diverticulum, intestinal malrotation, hemivertebrae, and partial absence of the cerebral falx. Growth retardation, evident mainly in the placenta, was reflected in lower than expected weight and structural abnormalities. The findings indicate that the phenotype of trisomy 18 is well established by midgestation.