Abstract：Objective: To explore the significanc of ultrasound soft markers(USM) in the first and second trimester combined with maternal serological detection of alpha-fetoprotein(AFP) and β-human chorionic gonadotropin(free-β-HCG) during the second trimester of pregnancy in screening fetal chromosomal abnormalities. Methods: A total of 2 502 pregnant female outpatients and inpatients from December 2010 to December 2014 were enrolled. The USM was detected during the 11th~28th gestational week by ultrasound, and multiple ultrasound soft markers(≥2) were taken as high risk. The levels of maternal serum AFP and free-β-HCG were detected during the 15th~21st gestational week. The risk of Down’s syndrome(DS) was assessed by the software named analysis system of DS prenatal screening, and the risk rate ≥1/270 was taken as high risk. Pregnant women of multiple ultrasound soft markers(≥2) and/or serological test in the high-risk level received genetic consultations, and the invasive amniocentesis and chromosomal examination were performed with consent. The screening results of multiple ultrasound soft markers or serological detection were compared with combined detection. Results: There was no statistically significant difference in detection results between USM screening and serological test. There was statistically significant difference in detection results between USM screening/serological test and combined screening. The specificity and the false negative rate were increased by combined detection. Conclusion: USM screening and serological test can't replace each other. Combined detection can enhance the exclusive ability of negative patients, and improve the reliability of prenatal screening for fetal chromosomal abnormalities.
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2016, Vol. 27 
