Sex ratios in fetuses and liveborn infants with autosomal aneuploidy

Am J Med Genet. 1996 Jun 14;63(3):492-500. doi: 10.1002/(SICI)1096-8628(19960614)63:3<492::AID-AJMG15>3.0.CO;2-H.


Ten data sources were used substantially to increase the available data for estimating fetal and livebirth sex ratios for Patau (trisomy 13), Edwards (trisomy 18), and Down (trisomy 21) syndromes and controls. The fetal sex ratio estimate was 0.88 (N = 584) for trisomy 13, 0.90 (N = 1702) for trisomy 18, and 1.16 (N = 3154) for trisomy 21. All were significantly different from prenatal controls (1.07). The estimated ratios in prenatal controls were 1.28 (N = 1409) for CVSs and 1.06 (N = 49427) for amniocenteses, indicating a clear differential selection against males, mostly during the first half of fetal development. By contrast, there were no sex ratio differences for any of the trisomies when comparing gestational ages < 16 and > 16 weeks. The livebirth sex ratio estimate was 0.90 (N = 293) for trisomy 13, 0.63 (N = 497) for trisomy 18, and 1.15 (N = 6424) for trisomy 21, the latter two being statistically different than controls (1.05) (N = 3660707). These ratios for trisomies 13 and 18 were also statistically different than the ratio for trisomy 21. Only in trisomy 18 did the sex ratios in fetuses and livebirths differ, indicating a prenatal selection against males > 16 weeks. No effects of maternal age or race were found on these estimates for any of the fetal or livebirth trisomies. Sex ratios for translocations and mosaics were also estimated for these aneuploids. Compared to previous estimates, these results are less extreme, most likely because of larger sample sizes and less sample bias. They support the hypothesis that these trisomy sex ratios are skewed at conception, or become so during embryonic development through differential intrauterine selection. The estimate for Down syndrome livebirths is also consistent with the hypothesis that its higher sex ratio is associated with paternal nondisjunction.

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Chromosome Aberrations / diagnosis
  • Chromosome Aberrations / epidemiology*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 18
  • Down Syndrome / diagnosis
  • Down Syndrome / epidemiology*
  • Down Syndrome / genetics
  • Female
  • Fetus / physiology*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Maternal Age
  • Pregnancy
  • Prenatal Diagnosis
  • Racial Groups
  • Sex Ratio*
  • Trisomy*