TY - JOUR
T1 - Congenital Anomalies Associated with Trisomy 18 or Trisomy 13
T2 - 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 - Arriola, Larraitz
AU - Bergman, Jorieke
AU - Cavero-Carbonell, Clara
AU - Csaky-Szunyogh, Melinda
AU - Draper, Elizabeth S.
AU - Garne, Ester
AU - Gatt, Miriam
AU - Haeusler, Martin
AU - Khoshnood, Babak
AU - Klungsoyr, Kari
AU - Lynch, Catherine
AU - Dias, Carlos Matias
AU - McDonnell, Robert
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 - Tuckerz, David
AU - Zymak-Zakutnia, Natalya
AU - Morris, Joan K.
N1 - © 2015 Wiley Periodicals, Inc.
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 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.
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 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.
KW - trisomy 18
KW - trisomy 13
KW - Edwards syndrome
KW - Patau syndrome
KW - cardiac anomalies
KW - DOWN-SYNDROME
KW - NATURAL-HISTORY
KW - SEX-DIFFERENCES
KW - MATERNAL AGE
KW - PREVALENCE
KW - DEFECTS
KW - MALFORMATIONS
KW - MORTALITY
KW - TRISOMIES
KW - SURVIVAL
U2 - 10.1002/ajmg.a.37355
DO - 10.1002/ajmg.a.37355
M3 - Article
C2 - 26347425
VL - 167
SP - 3062
EP - 3069
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
SN - 1552-4825
IS - 12
ER -