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October 14, 1974

Prenatal Diagnosis of Genetic Disorders: An Analysis of Experience With 600 Cases

Author Affiliations

From the Eunice Kennedy Shriver Center, Walter E. Fernald State School, Waltham, Mass (Dr. Milunsky), the Genetics Unit, Children's Service (Dr. Milunsky), and Department of Pathology (Dr. Atkins), Massachusetts General Hospital, and the departments of pediatrics (Dr. Milunsky) and pathology (Dr. Atkins), Harvard Medical School, Boston.

JAMA. 1974;230(2):232-235. doi:10.1001/jama.1974.03240020022015

Prenatal diagnosis of hereditary disorders is now an established part of routine antenatal care. This report of our experience with 600 cases indicates that advanced maternal age is by far the commonest indication for amniocentesis. Chromosomal or metabolic abnormalities were diagnosed in 15 fetuses. In addition, four fetuses were determined to be male in the sex-linked group. The parents elected termination of the pregnancies in 13 cases. Reassurance was provided to more than 95% of mothers studied. Every physician is urged to offer these prenatal genetic studies when indicated or to seek consultation when in doubt.

(JAMA 230:232-235, 1974)