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Background To investigate the prevalence and prenatal diagnosis rate of chromosomal abnormalities (CA) in Zhejiang Province, China. Methods We estimated the annual changes in the detected prevalence of CA and prenatal diagnosis rate among 681,590 births in Zhejiang Province, China, between 2014 and 2020. Data were derived from the provincial birth defects surveillance system, which represents 30% of annual births in Zhejiang Province. The effect of maternal age was also evaluated. Results The detected prevalence of sex chromosomal abnormalities (1.70–7.30 per 10,000 births, Ptrend < 0.001) and microdeletion and microduplication (0.30–6.81 per 10,000 births, Ptrend < 0.001) gradually increased, contributing to an upward trend in overall CA (12.09–39.22 per 10,000 births). The diagnosis rate before 22 gestational weeks constantly increased from 20.8 to 70.1% for trisomy 21 (Ptrend = 0.003). The prevalence rate ratio for maternal age of ≥ 35 years was higher than that for maternal age of 25–29 years for trisomy 21 (5.40, 95% confidence interval [CI] 4.59–6.35) and sex chromosomal abnormalities (3.28, 95% CI 2.48–4.33). Conclusions The rising prevalence of CA in China may be attributable to the elevated maternal age and the innovation of prenatal diagnosis tools, Thus, studies should pay attention to the rare CA that were previously ignored, and select rational screening tools.

BackgroundHealthcare for adolescents and birth defects (BD) prevention are highlighted public health issues. The epidemiology of birth defects in teenage pregnancies has not been studied extensively.ObjectivesTo investigate the prevalence trend and spectrum of BDs among teenage mothers.MethodsThis observational study covered all births registered in the BD surveillance system in Zhejiang Province, China, during 2012–2018. The annual change in the prevalence of BDs among adolescent mothers was estimated. Crude relative ratios using the BD categories in teenage pregnancies were calculated and compared with those in women aged 25–29 years.ResultsOverall, 54,571 BD cases among 1,910,977 births were included in this study, resulting in an overall prevalence of 234.64 to 409.07 per 10,000 births from 2012 to 2018 (Ptrend &lt; 0.001) in total population. The prevalence of birth defects in teenage pregnancies increased from 247.19 to 387.73 per 10,000 births in 2012–2018 (Ptrend = 0.024). The risks of neural tube defects (relative risk [RR] = 3.15, 95% confidence interval [CI] 2.56, 3.87), gastroschisis (RR = 7.02, 95% CI 5.09, 9.69), and multiple birth defects (RR=1.27, 95% CI 1.07, 1.52) were higher in teenage pregnancies than those in women aged 25–29 years.ConclusionsWe found a distinctive spectrum of BDs, with higher proportions of fatal or multiple anomalies in infants born to teenage mothers than in those born to adults aged 25–29 years. These results emphasize the importance of providing adolescents with better access to reproductive and prenatal care.

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ObjectiveTo characterize differences in the prenatal detection of congenital anomalies (CAs) associated with singleton and multiple births.MethodsThis observational study covered all births registered in the CA surveillance system in Zhejiang Province of China during 2012–2018. Differences in the incidence and characteristics between singletons and multiple births with CAs were tested. Multivariate logistic regression models were performed to explore the associations of prenatal detection rate of CAs with multiple births.ResultsTotals of 49 872 singletons and 3324 multiple births with CAs were analyzed. The mean incidences of CA for single and multiple births were 27.12 and 54.42 per 1000 births, respectively. After adjustment for covariates, CAs associated with multiple births were less likely to be diagnosed prenatally (adjusted odds ratio [OR] 0.38, 95% confidence interval [CI] 0.34–0.43), as were congenital heart defects, congenital hydrocephalus, cleft lip with cleft palate, cleft lip without cleft palate, limb reduction defects, congenital diaphragmatic hernia, trisomy 21 syndrome, congenital malformation of the urinary system, and other chromosomal malformation, compared with singletons with CAs.ConclusionMultiple birth is associated with a significantly higher risk of CA, but a significantly lower prenatal diagnosis rate. Therefore, the healthcare of women with multiple pregnancy and their fetuses should be strengthened.