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 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.

Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18

“…The prevalence of coexisting anomalies in this study was consistent with other published reports. (29–31, 35) Although most studies on surgical intervention for infants with T13 or T18 have focused on congenital heart disease, (5, 24) we found that the most common condition associated with early neonatal surgery was tracheoesophageal fistula. Surgical decision-making for non-cardiac conditions is an important area for further research.…”

Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation

“…All other typical features can appear in both disorders. Trisomy 18 often has sonographic features similar to Pena‐Shokeir syndrome, such as polyhydramnios, intrauterine growth restriction, and abnormal postures of the extremities secondary to skeletal muscle hypoplasia as well as diminished fetal activity . Normal fetal karyotype should exclude trisomy 18.…”

“…Trisomy 18 often has sonographic features similar to Pena-Shokeir syndrome, such as polyhydramnios, intrauterine growth restriction, and abnormal postures of the extremities secondary to skeletal muscle hypoplasia as well as diminished fetal activity. 13 Normal fetal karyotype should exclude trisomy 18. Neu-Laxova syndrome may show polyhydramnios, growth restriction, skeletal anomalies, microcephaly, prominent eyes, retrognathism, and hypomobility with flexion deformities.…”

A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case

“…Nondisjunction errors occur with increased frequency in advanced maternal age, which is a major risk factor for the development of trisomy abnormalities (Savva, Walker, & Morris, ). A European study of 3,624 trisomy 18 cases in 21 countries indicated that approximately 3% had neural tube defects (NTDs) and 6% had omphalocele (OMP; Springett et al, ). Demographically, 66–80% of trisomy 18 syndromes are reported in female fetuses (Parker et al, ; Rosa et al, ).…”