Abstract
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–control study was conducted. The subjects were divided into the case group (n = 40) or the control group (n = 40). 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 (0.61–3.61) Multiple of medium (MoM), which was higher than 1.00 (0.39–2.12) MoM in the control group (P < 0.001). The free beta-human chorionic gonadotropin (free β-hCG) level and NT in the case group were significantly higher than those in the control group (P < 0.001). The pregnancy-associated plasma protein A (PAPP-A) level in the case group was lower than that in the control group (P < 0.001). 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), positive likelihood ratio (+LR), and negative likelihood ratio (-LR) were significantly improved. In this study, PAPP-A + free β-hCG + NT + AFP-L2 and PAPP-A + free β-hCG + AFP-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%) (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.
Highlights
By electrophoresis, alpha-fetoprotein (AFP) variants are found in the serum after AFP binds to lensculinaris agglutinin (LCA)
The subjects were divided into the case group (n = 40) and the control group (n = 40) according to the presence or absence of trisomy 21, respectively
The results showed that the serum alpha-fetoprotein variants L2 (AFP-L2) level in pregnant women carrying fetuses with trisomy 21 was higher than that in women carrying normal fetuses during early pregnancy, and the differences were statistically significant (P < 0.001)
Summary
Alpha-fetoprotein (AFP) variants are found in the serum after AFP binds to lensculinaris agglutinin (LCA). Reproductive Sciences an important role in monitoring the recurrence of pelvic malignant tumor during pregnancy [2] Chromosomal aneuploidy, such as trisomy 21, trisomy 18, and trisomy 13, is the most common chromosomal abnormality in fetuses. Trisomy 21, which is known as Down’s syndrome, is the most common genetic chromosomal abnormality in newborns with birth defects. It is a syndrome characterized by irreversible mental retardation due to an additional chromosome 21, in which individuals with trisomy 21 are unable to take care of themselves. The incidence of trisomy 21 in newborns is approximately 1% [3]
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