Evidence map›Paper›PMID 41274663›Full record

ArticleBMJ paediatrics open2025

The aetiology distribution of birth defects based on the China Birth Cohort Study.

Xiaohang Liu, Ruixia Liu, Chen Wang, Ruohua Yan, Shen Gao, Shaofei Su, Xiaolu Nie, Jian Su, Enjie Zhang, Shuanghua Xie and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ paediatrics open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

15 authors.

Xiaohang Liu *Center for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China.
Ruixia Liu *Department of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Chen WangOutpatient Department, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China.
Ruohua YanCenter for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China.
Shen GaoDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Shaofei SuDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Xiaolu NieCenter for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China.
Jian SuCenter for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China.
Enjie ZhangDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Shuanghua XieDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Jianhui LiuDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Yue ZhangDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Wentao YueDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Xiaoxia PengCenter for Clinical Epidemiology and Evidence-based Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children Health, Beijing, China pengxiaoxia@bch.com.cn.ORCID http://orcid.org/0000-0001-8789-469X
Chenghong YinDepartment of Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBirth defects, which comprise a series of severe congenital abnormalities, impose a significant burden on society, families and individuals. Consequently, it is crucial to identify the underlying causes of birth defects and reduce their occurrence. Although an increasing number of risk factors for birth defects have been identified, few associations can be established as causal. Furthermore, the distribution of aetiology related to birth defects remains unclear. This study aims to analyse birth defect cases from the China Birth Cohort Study (CBCS) to elucidate the aetiological profile of these conditions.

methodsA total of 3873 abnormal cases were recorded in the CBCS from November 2017 to August 2021. Abnormal fetuses (including both live births and foetal losses) were diagnosed by obstetricians, ultrasound specialists and geneticists based on prenatal screening and clinical examinations. The causes of birth defects were categorised into chromosomal anomalies, genetic anomalies, environmental exposures and twinning. Chromosomal and genetic anomalies were identified through genetic screening. Data on exposure, including the substances involved and the duration of exposure, were reviewed to determine whether environmental factors contributed to the birth defects.

resultsAfter excluding cases with minor malformations, a total of 2123 birth defect cases were reviewed. The most common birth defects among the included cases were congenital heart disease, polydactyly, trisomy 21 and cleft palate with cleft lip. Of these, only 22.4% (475/2123) had identifiable causes. Specifically, 415 cases were attributed to chromosomal anomalies, while 31 cases were diagnosed as monogenic disorders. Additionally, 23 cases were linked to environmental exposures, and 6 cases were associated with twinning. The proportions of birth defect cases with known causes were significantly higher in the spontaneous abortion group (12/27, 44.4%), the therapeutic abortion group (314/1044, 30.1%) and perinatal death group (13/36, 36.1%) compared with live births (136/1016, 13.4%).

conclusionsNearly 80% of birth defect cases in the CBCS lack a clear identifiable cause. Therefore, translating statistical associations between risk factors and birth defects into causal relationships is both necessary and important.

Indexed as

Congenital AbnormalitiesBirth CohortChinaCohort StudiesFemaleHumansInfant, NewbornMalePregnancyPrenatal DiagnosisRisk FactorsInfantNeonatology

Identifiers

PMID41274663
PMCPMC12658558

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