{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T21:17:33Z","timestamp":1790457453041,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T00:00:00Z","timestamp":1609113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>To investigate the epidemiology of chromosomal abnormalities (CA) in fetuses of all pregnancies based on a provincial\u2010wide birth defects\u2010monitoring system, which could provide scientific basis for making relatively policy and research.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>From 2016 to 2019, a total of 2\u2009883\u2009890 perinatal infants (28\u2009weeks of gestation to postpartum 7\u2009days) underwent prenatal screening and diagnostic tests, and 3181 fetuses were diagnosed as CA, with the prevalence of 11.03\/10\u2009000. The average prevalence of CAs was higher for male than female fetuses (11.33\/10\u2009000 vs 10.06\/10\u2009000) (OR = 1.13, 95% CI: 1.05\u20131.21), which was higher in urban areas than rural areas (23.03\/10\u2009000 vs 7.13\/10\u2009000) (OR = 3.23, 95% CI: 3.02\u20133.47), and the prevalence increased linearly with maternal age (<jats:inline-graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"graphic\/jog14569-math-0001.png\" xlink:title=\"urn:x-wiley:13418076:media:jog14569:jog14569-math-0001\"\/> =\u20091821.844, <jats:italic>P<\/jats:italic> = 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\u2009000, 59.57%), trisomy 18 (1.13\/10\u2009000, 10.04%) and trisomy 13 (0.21\/10\u2009000, 1.88%). The main types of numerical gonosomal abnormalities were Klinefelter syndrome (0.68\/10\u2009000, 6.02%), Turner syndrome (0.49\/10\u2009000, 4.39%), Triple X syndrome (0.26\/10\u2009000, 2.29%) and 47,XYY syndrome (0.21\/10\u2009000, 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%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jog.14569","type":"journal-article","created":{"date-parts":[[2020,12,29]],"date-time":"2020-12-29T07:58:53Z","timestamp":1609228733000},"page":"865-872","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Chromosomal abnormality: Prevalence, prenatal diagnosis and associated anomalies based on a provincial\u2010wide birth defects monitoring system"],"prefix":"10.1111","volume":"47","author":[{"given":"Donghua","family":"Xie","sequence":"first","affiliation":[{"name":"Department of Information Management Maternal and Child Health Hospital of Hunan Province  Changsha China"},{"name":"NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care Hospital  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenzhen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Health Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqun","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Health Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoxian","family":"Li","sequence":"additional","affiliation":[{"name":"Obstetrics Department of Shunde Hospital The First People's Hospital of Shunde, Southern Medical University  Foshan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Information Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanjuan","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Information Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aihua","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Information Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Information Management Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Wang","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Birth Defect for Research and Prevention Hunan Provincial Maternal and Child Health Care Hospital  Changsha China"},{"name":"Department of Medical Genetics Maternal and Child Health Hospital of Hunan Province  Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,28]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"15","article-title":"Trisomy 13, 18, 21, Triploidy and turner syndrome: The 5T's. 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