Four-year experience with rapid bone marrow chromosome analyses in newborns.

Decisions surrounding management of the profoundly ill and seriously malformed neonate involve many ethical dilemmas, as well as concern for the family and the quality of the infant's life. The more information available to parents and clinicians the better informed any decision can be regarding surgical intervention, life-support systems, or extraordinary resuscitative efforts. To provide accurate data in an appropriate time frame, a rapid analysis of bone marrow chromosomes can be of value. Over four years, 42 cases were studied by this method, yielding diagnostic information within four hours. Twenty-three neonates had trisomic karyotypes. Only one false-negative test result was recorded, and no false-positive interpretations were made. Recognition of a normal karyotype provided important clinical information for pursuing vigorous therapy and was reassuring to parents.