Xie Donghua, Yang Wenzhen, Fang Junqun, Li Haoxian, Xiong Lili, Kong Fanjuan, Wang Aihua, Liu Zhiyu, Wang Hua
Department of Information Management, Maternal and Child Health Hospital of Hunan Province, Changsha, China.
NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, China.
J Obstet Gynaecol Res. 2021 Mar;47(3):865-872. doi: 10.1111/jog.14569. Epub 2020 Dec 28.
To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial-wide birth defects-monitoring system, which could provide scientific basis for making relatively policy and research.
Chromosomal abnormalities cases were collected from all hospitals in Hunan Province, China, between 2016 and 2019. The prevalence of CAs was calculated to examine associations among infant sex, maternal age and region. The rates of prenatal diagnosis and termination of pregnancy (TOP) involving CA or associated anomalies were calculated as rates or proportions.
From 2016 to 2019, a total of 2 883 890 perinatal infants (28 weeks of gestation to postpartum 7 days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03/10 000. The average prevalence of CAs was higher for male than female fetuses (11.33/10 000 vs 10.06/10 000) (OR = 1.13, 95% CI: 1.05-1.21), which was higher in urban areas than rural areas (23.03/10 000 vs 7.13/10 000) (OR = 3.23, 95% CI: 3.02-3.47), and the prevalence increased linearly with maternal age ( = 1821.844, P = 0.000). Among the fetuses with CAs, 3097 (97.36%) were diagnosed prenatally, and 3046 (98.35%) underwent TOP. The majority of CA were numerical abnormalities (90.18%). The main types of numerical autosomal abnormalities were trisomy 21 (6.69/10 000, 59.57%), trisomy 18 (1.13/10 000, 10.04%) and trisomy 13 (0.21/10 000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68/10 000, 6.02%), Turner syndrome (0.49/10 000, 4.39%), Triple X syndrome (0.26/10 000, 2.29%) and 47,XYY syndrome (0.21/10 000, 1.91%). The three associated anomalies with the highest proportions were congenital heart defects (CHD) (41.06%), cleft palate or/and cleft lip (10.89%) and congenital talipes equinovarus (8.94%).
The prevalence of CA was lower than that reported. Chromosome detection should be further promoted including test contest and coverage, especially for urban areas, older mothers and fetuses with CHD, cleft palate or/and cleft lip or congenital talipes equinovarus.
基于全省出生缺陷监测系统，调查所有妊娠胎儿染色体异常（CA）的流行病学情况，为制定相关政策和研究提供科学依据。
收集2016年至2019年中国湖南省所有医院的染色体异常病例。计算CA的患病率，以研究婴儿性别、母亲年龄和地区之间的关联。计算涉及CA或相关异常的产前诊断率和终止妊娠（TOP）率，并以率或比例表示。
2016年至2019年，共有2883890例围产儿（妊娠28周后至产后7天）接受了产前筛查和诊断测试，3181例胎儿被诊断为CA，患病率为11.03/10000。男性胎儿的CA平均患病率高于女性胎儿（11.33/10000对10.06/10000）（OR = 1.13，95%CI：1.05 - 1.21），城市地区高于农村地区（23.03/10000对7.13/10000）（OR = 3.23，95%CI：3.02 - 3.47），患病率随母亲年龄呈线性增加（ = 1821.844，P = 0.000）。在患有CA的胎儿中，3097例（97.36%）进行了产前诊断，3046例（98.35%）接受了TOP。大多数CA为数目异常（90.18%）。常染色体数目异常的主要类型为21 - 三体（6.69/10000，59.57%）、18 - 三体（1.13/10000，10.04%）和13 - 三体（0.21/10000，1.88%）。性染色体数目异常的主要类型为克兰费尔特综合征（0.68/10000，6.02%）、特纳综合征（0.49/10000，4.39%）、XXX综合征（0.26/10000，2.29%）和47,XYY综合征（0.21/10000，1.91%）。比例最高的三种相关异常为先天性心脏病（CHD）（41.06%）、腭裂或/和唇裂（10.89%）和先天性马蹄内翻足（8.94%）。
CA的患病率低于报道水平。应进一步推广染色体检测，包括检测范围和覆盖率，特别是针对城市地区、高龄母亲以及患有CHD、腭裂或/和唇裂或先天性马蹄内翻足的胎儿。
