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
SN - 1552-4833
SN - 1552-4825
VL - 167
SP - 3062
EP - 3069
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -
