Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

Abstract

BackgroundRecently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features.MethodsA retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed.ResultsThe total prevalence of CA was 6.38 per 10,000 births, which increased per 10,000 births linearly from 4.02 in 2011 to 9.13 in 2015 (x 2 line-trend =52.69, p < 0.001). During this period, the prevalence for CA per 10,000 births among women over 35 years old increased from 15.34 in 2011 to 33.82 in 2015 (x 2 line-trend =115121.6, p < 0.001). The RR for overall CA, trisomy 21(T21), trisomy 18(T18) and others in mothers 35 years or older were 6.64 (95% CI 5.55 ~ 7.93), 6.83 (95% CI 5.63 ~ 8.30), 4.06 (95% CI 2.09 ~ 7.90) and 7.54 (95% CI 4.02 ~ 14.11) respectively in comparison to mothers aged 25–29 years old. The stillbirths rate for total CA was 76.45%. T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities.ConclusionsThe prevalence of CA increased as maternal age increased. Cases with CA were associated with other congenital defects and high mortality risk.

Changes in maternal age and prevalence of congenital anomalies during the enactment of China's universal two-child policy (2013–2017) in Zhejiang Province, China: An observational study

“…An increase in congenital anomalies, such as trisomy 21 and other chromosomal anomalies, was found in our study. This finding was consistent with our previous study [37]. Increased maternal age could be one of the explanations.…”

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

“…Alternatively, due to the devastative effect on cellular homeostasis, SCM/CIN might result in mosaic chromosomal pathology with recognized patterns of malformations after birth [14,36]. The latter is relatively uncommon in newborns studied by karyotyping [37,38]. However, the application of single-cell molecular cytogenetic techniques gives an impression that SCM and CIN rates are significantly higher than the rates revealed by cytogenetic analyses [16,35,39].…”

Utjecaj demografskih i socioekonomskih čimbenika na prevalenciju sindroma autosomnih kromosomskih anomalija u poslijeratnoj Bosni i Hercegovini

“…Razlog za višu prevalencija SAKA-a u ruralnim sredinama mogao bi ležati u različitim čimbenicima, kao što su npr. niži socioekonomski i obrazovni status, niži stupanj zdravstvene svijesti, slabija prenatalna njega u ranim stadijima trudnoće, paritet majke, određeni stupanj srodstva među bračnim 34,35 Ovo je problem koji nikada nećemo u potpunosti eliminirati, ali uz pomoć novih saznanja prevalencija se može sniziti onoliko koliko to granice humane genetike dozvoljavaju.…”