2019一2024年北京市新生儿肾上腺皮质增生症筛查情况分析

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[中图分类号]R174

[文献标识码]A [文章编号]1673—5293（2026）01—0099—06

Analysis of neonatal congenital adrenal hyperplasia screening in Beijing from 2019 to 2024

GU Lijin，GONG Lifei，ZHAO Jinqi，TANG Yue，LI Lulu， WANG Shunan，YANG Wan，KONG Yuanyual （Department of newborn Screening Center，BeijingObstetricsand Gynecology Hospital，Capital Medical University/Beijing Maternal and Child Health Care Hospital，Beijing lOoO26，China）

[Abstract]ObjectiveToanalyzethescreningresultsofcongenitaladrenalhyperplasia（CAH）innewbornsinBeijing，understand thequalityandincidenceofCAHsreninginnewborns inBeijing，summarizethescreeningexperieneandprovidesuggestionsfor furtherimprovementof thework.Methods Newborns whounderwentscreningattheneonataldisease screeningcenterinBeijing from 0l9to2O24wereselectedastheresearch subjects.72hoursafterbirth，heelbloodwascolectedanddroppedontofilter paper，and theconcentrationof17-hydroxyprogesterone （17-OHP）was detected using time-resolving fluorescence immunoassay. Results From 2019 to 2024，a total of 933 581 newborns were screened，the screening rate was 99.93% ，the positive rate of primary screening was 0.31% ，the recall rate was 94.24% ，and 59 cases were diagnosed，mainly salt-loss type. The incidence of CAH was 1：15 823 ，with a positive predictive value of 2.16% ，and the positive predictive value was lower in premature infants and low birth weight infants.Conclusions Thescreeningrateandpositiverecallrateofthecongenitaladrenal hyperplasiascreeningprojectfor newbornsinBeijingarerelativelyhigh，whichisconducivetoearlyidentificationandearlydiagnosis;theincidenceofcongenital adrenalhyperplasiaineijingisatanatinalveragelevel，utteositivepredictievalueislwspeiallyinpematurefants andlow birth weight infants.The screning process needs tobefurtheroptimized toimprovethepositive predictive valueand reduce the false positive rate.

[Key words] newborn screening;congenital adrenal hyperplasia;17-hydroxyprogesterone

先天性肾上腺皮质增生症（congenitaladrenalhyperplasia，CAH是一组先天性内分泌疾病，是由于肾上腺合成皮质醇类固醇过程中所需的某种酶先天性缺陷，导致肾上腺皮质功能减退的一组常染色体隐性遗传代谢病。（剩余8016字）