Antenatal diagnosis of cytogenetic abnormalities Article

cited authors

  • Simpson, JL

fiu authors


  • Great strides have been achieved in the antenatal diagnosis of chromosomal disorders. At present antenatal chromosomal diagnosis is definitely appropriate in the following circumstances: (1) maternal age over 35 yr, (2) previous infant or parent with aneuploidy, (3) presence of a translocation or inversion in a parent, and (4) increased risk for an X-linked recessive disorder. Other potential indications have been considered, but none is sufficiently established to justify routine clinical application. Future investigations should establish the significance of these alternative indications, particularly in women under age 35. However, the optimal approach would involve noninvasive techniques that could be applicable in all pregnant women. Our future goals are, therefore, not only to improve utilization for current indications, but to investigate methods allowing application of antenatal studies to the entire population.

publication date

  • December 1, 1980

start page

  • 165

end page

  • 178


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