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Abstract To explore the value of ultrasonic fetal nuchal translucency (NT) thickness inspection combined with serum alpha fetoprotein (AFP) and human chorionic gonadotropin (β-HCG) levels for early screening fetal congenital heart disease. Methods: 2315 pregnant women were selected as the study objects from June 2015 to June 2018, and their fetal NT thickness was measured by ultrasonography during 11-14 gestational weeks. The peripheral venous blood of these women during 15-21 gestational weeks was collected, and the levels of AFP and β-HCG in serum of these women were measured by time-resolved fluorescence. The diagnostic values of these different results were analyzed. Results: The detection of NT thickness, AFP level, β-HCG level, NT thickness combined with AFP level, NT thickness combined with β-HCG level, AFP level combined with β-HCG level, or NT thickness combined with AFP andβ-HCG levels for screening fetal congenital heart disease was 5.7%, 4.8%, 6.4%, 1.4%, 1.4%, 1.3%, or 1.2%. The detection rate of fetal congenital heart disease of the women aged over 35 years old was significantly higher than that of the women aged 20-35 years old (P<0.05). The specificity and the accuracy of serum β-HCG level for screening fetal congenital heart disease were significant lower than those of NT thickness or AFP level (P<0.05), and the its misdiagnosis rate was significantly higher than that of NT thickness or AFP level (P<0.05). The specificity (99.7%), the positive predictive value (74.1%), and the accuracy (99.6%) of NT thickness combined with AFP and β-HCG levels for screening fetal congenital heart disease were significant higher than those of NT thickness combined with AFP level, than those of NT thickness combined with β-HCG level, or those of AFP level combined with β-HCG level. The misdiagnosis rate (13.0%) of NT thickness combined with AFP and β-HCG levels for screening fetal congenital heart disease was the lowest (P<0.05). Conclusion: The thickness of NT combined with serum AFP and β-HCG levels for screening fetal congenital heart disease can improve the specificity and the positive predictive value, and can reduce the misdiagnosis rate, which has great significance for predicting the adverse prognosis of the fetus.
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