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An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age

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Summary

In 229 pregnancies monitored because of advanced maternal age, 16 (7%) abnormal fetal karyotypes were detected. We found 13 cases of trisomy 21, twice a trisomy 18, and once an additional marker chromosome. The frequency of abnormal fetal karyotypes in different maternal age groups was found to increase from 1:20 at 38–40 years, to 1:16 at 41–43 years, and finally to 1:45 in women of 44–46 years. The overall incidence of chromosomal aberrations and specifically of trisomy 21 is considerably higher than that described in retrospective studies.

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Sachs, E.S., Jahoda, M.G.J., Niermeijer, M.F. et al. An unexpected high frequency of trisomic fetuses in 229 pregnancies monitored for advanced maternal age. Hum Genet 36, 43–46 (1977). https://doi.org/10.1007/BF00390434

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