Cytogenetics of Fetal Wastage

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Abstract
A consecutive series of 50 couples with a history of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirth(s) or both of infants with multiple congenital anomalies. Three women were found to be balanced reciprocal translocation carriers; all translocations were not detectable by the conventional method but were demonstrable by current banding technics. In addition to the translocation carriers, one woman was found to be a mosaic for 45,X/46,XX/47,XXX. Four of the parents showed increased mitotic instability or chromosome breakage and rearrangement, or both. Parental chromosome abnormalities may therefore account for fetal wastage in between 6 and 16 per cent (or about one in 10) of couples having such a history. Such couples, if identified, can potentially benefit by prenatal monitoring of future pregnancies. (N Engl J Med 293:844–847, 1975)