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, Jorieke Bergman, Clara Cavero-Carbonell, Melinda Csaky-Szunyogh, Elizabeth Draper, Ester Garne, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Catherine Lynch, Carlos Matias Dias, Bob McDonnell, Vera Nelen, Mary O'Mahony, Anna Pierini & 8 others Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Catherine Rounding, Sylvia Stoianova, David Tucker, Natalya Zymak-Zakutnia, Joan Morris

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

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 countriesprovided data from 2000–2011. Cases included live births, fetal deaths (20þ weeks’ gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associatedanomalies 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 withtrisomy 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 (OR¼0.48 (0.30–0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR¼0.46 (0.27–0.77)]. Babies with trisomy 18or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.
LanguageEnglish
Pages3062-3069
JournalAmerican Journal of Medical Genetics
Volume167
Issue number2
Early online date8 Sep 2015
DOIs
Publication statusPublished - Dec 2015

Fingerprint

Registries
Nervous System Malformations
Live Birth
Pregnancy
Polydactyly
Esophageal Atresia
Fetal Death
Trisomy
Trisomy 18
Trisomy 13 syndrome
Parturition
Population

Keywords

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

Cite this

Springett, Anna ; Wellesley, Diana ; Greenlees, Ruth ; Loane, Maria ; Addor, Marie-Claude ; Bergman, Jorieke ; Cavero-Carbonell, Clara ; Csaky-Szunyogh, Melinda ; Draper, Elizabeth ; Garne, Ester ; Gatt, Miriam ; Haeusler, Martin ; Khoshnood, Babak ; Klungsoyr, Kari ; Lynch, Catherine ; Dias, Carlos Matias ; McDonnell, Bob ; Nelen, Vera ; O'Mahony, Mary ; Pierini, Anna ; Queisser-Luft, Annette ; Rankin, Judith ; Rissmann, Anke ; Rounding, Catherine ; Stoianova, Sylvia ; Tucker, David ; Zymak-Zakutnia, Natalya ; Morris, Joan. / Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011. In: American Journal of Medical Genetics. 2015 ; Vol. 167, No. 2. pp. 3062-3069.
@article{4d5297ac56af4b9bbd7f80892876ba68,
title = "Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011",
abstract = "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 countriesprovided data from 2000–2011. Cases included live births, fetal deaths (20{\th} weeks’ gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associatedanomalies 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 withtrisomy 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 (OR¼0.48 (0.30–0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR¼0.46 (0.27–0.77)]. Babies with trisomy 18or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.",
keywords = "Trisomy 18, Trisomy 13, Edwards syndrome, Patau syndrome, cardiac anomalies",
author = "Anna Springett and Diana Wellesley and Ruth Greenlees and Maria Loane and Marie-Claude Addor and Jorieke Bergman and Clara Cavero-Carbonell and Melinda Csaky-Szunyogh and Elizabeth Draper and Ester Garne and Miriam Gatt and Martin Haeusler and Babak Khoshnood and Kari Klungsoyr and Catherine Lynch and Dias, {Carlos Matias} and Bob McDonnell and Vera Nelen and Mary O'Mahony and Anna Pierini and Annette Queisser-Luft and Judith Rankin and Anke Rissmann and Catherine Rounding and Sylvia Stoianova and David Tucker and Natalya Zymak-Zakutnia and Joan Morris",
year = "2015",
month = "12",
doi = "10.1002/ajmg.a.37355",
language = "English",
volume = "167",
pages = "3062--3069",
journal = "American Journal of Medical Genetics",
issn = "0148-7299",
number = "2",

}

Springett, A, Wellesley, D, Greenlees, R, Loane, M, Addor, M-C, Bergman, J, Cavero-Carbonell, C, Csaky-Szunyogh, M, Draper, E, Garne, E, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, Lynch, C, Dias, CM, McDonnell, B, Nelen, V, O'Mahony, M, Pierini, A, Queisser-Luft, A, Rankin, J, Rissmann, A, Rounding, C, Stoianova, S, Tucker, D, Zymak-Zakutnia, N & Morris, J 2015, 'Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011', American Journal of Medical Genetics, vol. 167, no. 2, pp. 3062-3069. https://doi.org/10.1002/ajmg.a.37355

Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011. / Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tucker, David; Zymak-Zakutnia, Natalya; Morris, Joan.

In: American Journal of Medical Genetics, Vol. 167, No. 2, 12.2015, p. 3062-3069.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000–2011

AU - Springett, Anna

AU - Wellesley, Diana

AU - Greenlees, Ruth

AU - Loane, Maria

AU - Addor, Marie-Claude

AU - Bergman, Jorieke

AU - Cavero-Carbonell, Clara

AU - Csaky-Szunyogh, Melinda

AU - Draper, Elizabeth

AU - Garne, Ester

AU - Gatt, Miriam

AU - Haeusler, Martin

AU - Khoshnood, Babak

AU - Klungsoyr, Kari

AU - Lynch, Catherine

AU - Dias, Carlos Matias

AU - McDonnell, Bob

AU - Nelen, Vera

AU - O'Mahony, Mary

AU - Pierini, Anna

AU - Queisser-Luft, Annette

AU - Rankin, Judith

AU - Rissmann, Anke

AU - Rounding, Catherine

AU - Stoianova, Sylvia

AU - Tucker, David

AU - Zymak-Zakutnia, Natalya

AU - Morris, Joan

PY - 2015/12

Y1 - 2015/12

N2 - 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 countriesprovided data from 2000–2011. Cases included live births, fetal deaths (20þ weeks’ gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associatedanomalies 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 withtrisomy 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 (OR¼0.48 (0.30–0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR¼0.46 (0.27–0.77)]. Babies with trisomy 18or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.

AB - 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 countriesprovided data from 2000–2011. Cases included live births, fetal deaths (20þ weeks’ gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associatedanomalies 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 withtrisomy 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 (OR¼0.48 (0.30–0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR¼0.46 (0.27–0.77)]. Babies with trisomy 18or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls.

KW - Trisomy 18

KW - Trisomy 13

KW - Edwards syndrome

KW - Patau syndrome

KW - cardiac anomalies

U2 - 10.1002/ajmg.a.37355

DO - 10.1002/ajmg.a.37355

M3 - Article

VL - 167

SP - 3062

EP - 3069

JO - American Journal of Medical Genetics

T2 - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 0148-7299

IS - 2

ER -