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Abstract Objective: To explore the value of B-ultrasound combined with maternal serum level of alpha-fetoprotein (AFP), free beta-hCG and estriol (uE3) in screening and diagnosing fetal central nervous system malformations. Methods: The date of 308 pregnant women in the obstetrics and gynaecology clinic of Ju county maternal and child health care and family planning service center from October 2016 to May 2018 were analyzed retrospectively. All included pregnant women had been examinated by B-ultrasound and received detection of the levels of serum AFP, Freeβ-hCG, and uE3. The value of levels of serum AFP, Freeβ-hCG,and uE3 combined with B-ultrasound examination for diagnosing fetal central nervous system malformation was evaluted. Results: Among all women, 17 cases had fetal with central nervous system malformation who had been confirmed after induction or delivery, the detection rate was 5.5%, which included 6 cases of hydrocephalus, 5 cases of spina bifida, 2 cases of anterior whole brain, 6 cases without brain, and 1 case of brain swelling. In 29 cases with abnormal value of the median multiple (MOM), 8 cases of central nervous system malformation were confirmed, which included 3 cases of hydrocephalus, 2 cases of spina bifida, 1 case of anterior whole brain, 1 case of no brain, and brain 1 case of bulging. 12 cases had central nervous system malformation by ultrasound detected, which included 4 cases of hydrocephalus, 3 cases of spina bifida, 2 cases of anterior whole brain, 2 cases without brain, and 1 case of brain swelling. The correct rate of diagnosing fetal central nervous system malformation by ultrasound was 70.6%, the diagnostic accuracy of fetal central nervous system malformation by level of serum AFP, Freeβ-hCG and uE3 was 47.1%.The correct rate of diagnosing fetal central nervous system malformation by ultrasound examination combined with detection of level of serum AFP, Freeβ-hCG and uE3 was 88.2%,that was highest. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and area under the curve (AUC) of ultrasound examination combined with detection of level of serum AFP, Freeβ-hCG and uE3 for diagnosing fetal central nervous system malformation were 85.3%, 88.0%, 75.2%, 89.7%, 90.6%, 0.86 (95% CI: 0.506-0.892). Conclusion: B-ultrasound examination and detection of levels of maternal serum AFP, Freeβ-hCG, and uE3 have certain diagnosis value for screening fetal central nervous system malformation, which can improve the diagnostic accuracy.
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