| Objective: To establish a population-based prospective cohort study to clarify the incidence and influencing factors of congenital structural malformations in Qingdao,find out the potential pathogenic factors,and provide evidence-based evidence for the effective prevention and control of congenital structural malformations.Methods: Based on the cohort of "Qingdao Comprehensive Prevention and Control of Birth Defects",this study included pregnant women who underwent prenatal screening in Qingdao from August 2018 to June 2020(the whole population of Qingdao),and systematically collected basic information about pregnant women(including demographic and sociological data,childbearing history,disease history,behavior,and lifestyle,etc.).At 18-28 weeks of gestation,the fetus was screened for congenital structural malformations through prenatal ultrasound and the first follow-up was completed.Within 7 days after birth,diagnosis of congenital structural malformations through clinical examination,ultrasound,and other auxiliary examinations.Based on the above queue,the following research contents are carried out:The incidence rate of congenital structural malformations in Qingdao: The prenatal ultrasound examination and the screening and diagnosis results at the neonatal stage were used to calculate the incidence rate of fetal congenital structural malformations and the incidence rate of live births of congenital structural malformations,respectively.The incidence rate of live births of different system structural malformations was calculated according to the tenth revision of the International Classification of Diseases(ICD-10).Analysis of the influencing factors of congenital structural malformation in Qingdao: multivariate logistic regression model was used to analyze the influencing factors of congenital structural malformation and the influencing factors of various systems,and the odds ratio(OR)and 95% confidence interval(CI)of each factor were calculated.Results: A total of 139472 pregnant women were included in this study,excluding pregnant women who terminated pregnancy or miscarried before 18 weeks of pregnancy,had no prenatal ultrasound examination,twin/multiple pregnancies,chromosomal-related diseases,and lost follow-up.A total of 115238 pairs of pregnant women and live newborns were included in the final analysis.The incidence of congenital structural malformations was 2.28% in fetuses and 1.27% in live births.Fetal congenital structural malformations were mainly found in the circulatory system(56.64%),urinary system(16.07%),and digestive system(including cleft lip and palate)(8.95%).The congenital structural malformations of live births were mainly found in the circulatory system(51.33%),musculoskeletal system(21.82%),and digestive system(7.29%).The top five diseases with an incidence rate are congenital heart disease(6.15‰),multiple fingers/toes(1.27‰),syndactyly/toes(0.37‰),cleft lip and palate(0.30‰),hypospadias(0.28‰).Multivariate logistic regression analysis showed that the risk of congenital structural malformations in the offspring of multiparous women was lower than that of primipara women [OR=0.83;95% CI: 0.74-0.93].Compared to junior high school and below educational level,maternal postgraduate educational level offspring had a slightly higher risk of congenital structural malformations [OR=1.32;95% CI: 1.02-1.71].Preterm birth history [OR=2.23;95% CI: 1.49-3.32],thyroid disease during pregnancy [OR=1.34;95% CI: 1.05-1.71],or pregestational diabetes mellitus [OR=3.65;95% CI: 2.15-6.19],birth defect history of the mother [OR=2.73;95% CI: 1.49-5.00] or previous pregnancy history of congenital heart disease [OR=5.58;95% CI: 3.33-9.34],the risk of congenital structural malformation in their offspring is increased.The results of systematic analysis of congenital structural malformations showed that the risk of congenital malformations in the circulatory system of offspring with postgraduate education level [OR=1.59;95% CI: 1.13-2.25],pregestational diabetes mellitus [OR=3.06;95% CI: 1.42-6.57],congenital heart disease pregnancy history [OR=8.81;95% CI: 4.97-15.60] and preterm birth history [OR=2.29;95% CI: 1.33-3.94] was increased.The risk of circulatory malformations in multipara women [OR=0.81;95% CI: 0.69-0.95] and male infants [OR=0.84;95% CI: 0.72-0.98] was low.The offspring with a birth defect history of the mother [OR=6.92;95% CI: 3.06-15.67] and pregestational diabetes mellitus [OR=7.43;95% CI: 3.25-16.96] had a higher risk of skeletal and muscular system malformations;while living in rural areas had a lower risk of musculoskeletal system malformations [OR=0.72;95% CI: 0.54-0.98].Preterm birth history and congenital heart disease pregnancy history were risk factors for digestive system malformations,including cleft lip and palate(P<0.05).Male infants had a high risk of urinary and reproductive system malformations(P<0.05).Thyroid disease in maternal pregnancy is a risk factor for facial deformities(P=0.05).Conclusion: 1.Under the birth defect prevention and control system,the incidence rate of congenital structural malformations in Qingdao is lower than the national average.The common system of structural abnormalities in newborns is slightly different from the fetal period.2.Low risk of congenital structural malformations in multipara women,while maternal postgraduate educational level,preterm birth history,diabetes with pregnancy or thyroid disease during pregnancy,maternal history of birth defects,or previous congenital heart disease pregnancy history are the risk factors of congenital structural malformations.The risk factors for different systemic malformations vary.3.It is suggested that the information collection system of family history should be improved.For pregnant women with a previous history of congenital heart disease or preterm birth history,the individual pregnancy risk should be comprehensively assessed in time,and the personalized management of congenital structural malformations diagnosis and treatment should be improved.For pregnant women with underlying diseases,it is necessary to strengthen pre-pregnancy and pregnancy health care,as well as reasonable medication management,to avoid exposure to relevant risk factors. |
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