Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011

Anna Springett, Diana Wellesley, Ruth Greenlees, Maria Loane, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Clara Cavero-Carbonell, Melinda Csaky-Szunyogh, Elizabeth S. Draper, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Carlos Matias Dias, Robert McDonnell, Vera Nelen, Mary O'MahonyAnna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Catherine Rounding, Sylvia Stoianova, David Tuckerz, Natalya Zymak-Zakutnia, Joan K. Morris*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

52 Citations (Scopus)


The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95% CI: 4.7-5.0) and 1.9 (95% CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. (C) 2015 Wiley Periodicals, Inc.

Original languageEnglish
Pages (from-to)3062-3069
Number of pages8
JournalAmerican Journal of Medical Genetics. Part A
Issue number12
Publication statusPublished - Dec-2015


  • trisomy 18
  • trisomy 13
  • Edwards syndrome
  • Patau syndrome
  • cardiac anomalies

Cite this