Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003

Am J Med Genet A. 2008 Apr 1;146A(7):820-6. doi: 10.1002/ajmg.a.32200.


In recent years, prenatal diagnosis and elective pregnancy termination have affected the reported birth prevalence of trisomies 13 and 18. We examined the prevalence and characteristics of these conditions using 1994-2003 data from a population-based surveillance system, the Metropolitan Atlanta Congenital Defects Program. Including fetal deaths and elective terminations increased the number of affected pregnancies by 58.7% for trisomy 13 and 72.2% for trisomy 18. Prenatal cytogenetic testing was reported in 70.8% of trisomy 13 cases and 76.1% of trisomy 18 cases. Among those with prenatal cytogenetic tests, 60.8% of trisomy 13 and 59.7% of trisomy 18 cases were electively terminated. Compared with non-Hispanic whites, non-Hispanic black race was associated with a decreased frequency of prenatal cytogenetic testing for both trisomy 13 and trisomy 18 (OR 0.24, 95% CI: 0.08-0.78 and OR 0.32, 95% CI: 0.14-0.69, respectively). The reported rates of prenatal cytogenetic testing remained stable throughout the period. As expected, maternal age > or =35 years was a risk factor for both conditions. However, while 67.1% (n = 55) of the trisomy 18 case mothers were > or =35 years, only 46.9% (n = 15) of the trisomy 13 case mothers were > or =35 years. Among live-born infants, the sex ratio among trisomy 18 infants showed an increased proportion of females: 60.4% female versus 39.6% male. However, the proportion was 48.3% female and 51.7% male among fetuses that were electively terminated in the second trimester. Inclusion of pregnancies that are prenatally diagnosed is critical for accurate surveillance and population-based analyses of these conditions.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 18*
  • Female
  • Georgia / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Prenatal Diagnosis*
  • Prevalence
  • Syndrome
  • Trisomy*