Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Trends in maternal age distribution and the live birth prevalence of Down’s syndrome in England and Wales: 1938–2010

“…2,[10][11][12][13] As the changes in the live birth prevalence of Down's syndrome are also dependant on the proportion of Down's syndrome cases diagnosed prenatally and the proportion of subsequent terminations being performed, the birth prevalence of Down's syndrome only increased slightly in the United States, 11 stayed stable in Singapore and Europe, 2,12,13 and decreased in Australia. 10 In developing countries, such as China, 14 with a lower availability of prenatal diagnosis and subsequent termination, the increase in the proportion of mothers aged 35 and over had a bigger impact on the birth prevalence of Down's syndrome.…”

Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

“…[30][31][32][33][34][35][36] Due to sociocultural changes of the last century, such as the introduction of family planning and the inclusion of women in the labor market, women have started getting pregnant later and later and so the prevalence of trisomies has increased in recent decades. 26,[37][38][39][40] This study was based on data obtained from tracking of aneuploid fetuses identified after fetal karyotype studies, indicated by the presence of morphological changes in ultrasound examinations in the first and/or second trimester. Only in 1% (1 of 92) of cases the karyotype study was indicated due to advanced MA.…”

“…29,[44][45][46][47] In Brazil, there is a public policy of screening for aneuploidy, therefore, cases with ultrasound changes in the morphological examination from the first and second trimester are referred to tertiary care centers, such as the HC-FMUSP, a situation similar to that described by Yamanaka et al 44 in a study published in Japan in 2006. In 2013, Loane et al, 38 in a study using data from the European Surveillance of Congenital Anomalies (Eurocat), reported that 58% of cases with prenatal diagnosis of T21 are identified in the ultrasound screening at the first trimester, and 16% after combined screening (biochemical and ultrasound). Cultural, social and legal differences between countries justify the differences in the recommendations for invasive procedure for fetal karyotype studies.…”

Genetic-Epidemiological Study of Urban and Rural Pediatric Populations in Kharkov Region through the Example of Zmiiv District

“…Крім того, у досліджуваному районі було вияв-лено 8 дітей з хромосомними порушеннями, а саме з синдромом Дауна (1:1495), що не відрізняється від середньоєвропейського показника (1:893) [26] і може бути зумовлене ефективністю відповідних заходів профілактики у районі, в тому числі реалі-зацією скринінгових програм, підвищенням рівня ранньої діагностики цих захворювань.…”