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Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years

Claire Irving1, Sam Richmond, Christoper Wren

  • 1Department of Paediatric Cardiology, Freeman Hospital, Newcastle Upon Tyne NE7 7DN, UK.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|April 14, 2010
PubMed

Insights

Prenatal diagnosis and increased maternal age have significantly reduced live births of trisomy 13 and trisomy 18. However, infant survival rates for these conditions remain poor, with most infants dying shortly after birth.

Area of Science:

  • Genetics and Genomics
  • Reproductive Health
  • Pediatric Medicine

Background:

  • Trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) are severe chromosomal abnormalities.
  • Trends in prenatal diagnosis and maternal age influence live birth prevalence and outcomes.

Purpose of the Study:

  • To investigate trends in the diagnosis, prevalence, and survival rates of trisomy 13 and trisomy 18.
  • To assess the impact of changes in prenatal screening and maternal age on these conditions.

Main Methods:

  • Population-based study utilizing a congenital abnormality register in a UK health region (1985-2007).
  • Review of individual records to obtain live birth and maternal age data.

Main Results:

  • Pregnancies with trisomy 13 and 18 increased, with higher prenatal diagnosis rates and associated termination rates.
  • Live born prevalence of trisomy 13 decreased from 0.05 to 0.03 per 1000 live births; trisomy 18 decreased from 0.16 to 0.10 per 1000 live births.
  • One-year survival remained poor (3% for trisomy 13, 6% for trisomy 18), with maternal age over 35 increasing from 6% to 15%.

Conclusions:

  • Changes in prenatal screening and increasing maternal age have significantly impacted live born prevalence of trisomies 13 and 18.
  • Infant survival rates for these conditions have not improved, with most deaths occurring in the neonatal period.
Abstract

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