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Sci."],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To establish a risk prediction model and the clinical value of trisomy 21 using alpha-fetoprotein variants L2 (AFP-L2) combined with maternal serum biomarkers and nuchal translucency (NT) thickness in early pregnancy. A retrospective case\u2013control study was conducted. The subjects were divided into the case group (<jats:italic>n<\/jats:italic>\u2009=\u200940) or the control group (<jats:italic>n<\/jats:italic>\u2009=\u200940). An enzyme-linked immunosorbent assay was used to measure the maternal serum AFP-L2 level in both groups. The AFP-L2 single-index or multi-index combined risk model was used to predict the efficiency of trisomy 21. The best cut-off value and area under the curve (AUC) were determined to evaluate the predictive efficacy of different risk models constructed by AFP-L2. The maternal serum AFP-L2 level in the case group was 1.59 (0.61\u20133.61) Multiple of medium (MoM), which was higher than 1.00 (0.39\u20132.12) MoM in the control group (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). The free beta-human chorionic gonadotropin (free \u03b2-hCG) level and NT in the case group were significantly higher than those in the control group (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). The pregnancy-associated plasma protein A (PAPP-A) level in the case group was lower than that in the control group (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001). The AUC of AFP-L2 in predicting trisomy 21 was 0.797. After considering the maternal serum AFP-L2 level, the AUC, detection rate (DR), positive predictive value (PPV), negative predictive value (NPV), falsepositive rate (FPR), false negative rate (FNR),\u2009positive likelihood ratio (+LR), and negative likelihood ratio (-LR) were significantly improved. In this study, PAPP-A\u2009+\u2009free \u03b2-hCG\u2009+\u2009NT\u2009+\u2009AFP-L2 and PAPP-A\u2009+\u2009free \u03b2-hCG\u2009+\u2009AFP-L2 increased the integrated discrimination improvement (IDI) and net classification improvement (NRI) of predicting fetuses with trisomy 21  (1.10% and 5.27%; 11.07% and 2.78%)\u00a0 (1.10% and 5.27%; 11.07% and 2.78%), respectively, after considering the maternal serum AFP-L2 level. The maternal serum AFP-L2 level in early pregnancy had high sensitivity and specificity, and it was a good biomarker to predict fetuses with trisomy 21.<\/jats:p>","DOI":"10.1007\/s43032-021-00762-5","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T18:02:46Z","timestamp":1636394566000},"page":"1287-1295","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A Risk Model for Predicting Fetuses with Trisomy 21 Using Alpha-Fetoprotein Variants L2 Combined with Maternal Serum Biomarkers in Early Pregnancy"],"prefix":"10.1007","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1532-6049","authenticated-orcid":false,"given":"Yiming","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenwen","family":"Ning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,8]]},"reference":[{"key":"762_CR1","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1159\/000217625","volume":"10","author":"K Taketa","year":"1989","unstructured":"Taketa K, Ichikawa E, Sakuda H, et al. 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The data used in this study was anonymized before its use. Patients\u2019 consents were not required because this was a retrospective study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval and Consent to Participate"}},{"value":"Not applicable; this was a retrospective study and no individual person\u2019s personal information is included.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}