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, Arriola, Larraitz, Bergman, Jorieke, Cavero-Carbonell, Clara, Csaky-Szunyogh, Melinda, Draper, Elizabeth S., Garne, Ester, Gatt, Miriam, Haeusler, Martin, Khoshnood, Babak, Klungsoyr, Kari, Lynch, Catherine, Dias, Carlos Matias, McDonnell, Robert, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Stoianova, Sylvia, Tuckerz, David, Zymak-Zakutnia, Natalya and Morris, Joan K. (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 part A, 167 (12), 3062-3069. (doi:10.1002/ajmg.a.37355).

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 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

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