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目的探讨孕11~13+6周超声联合血清学检测在胎儿染色体异常筛查中的应用价值。方法对2012年3月-2014年4月进行产前筛查的孕早期孕妇3760例,采用常规经腹部超声对胎儿颈项透明层厚度(NT)及鼻骨(NB)进行检测,并检测血清学指标母体血清甲胎蛋白(AFP)和游离β-人绒毛膜促性腺激素(fβ-h CG)以及血清妊娠相关蛋白(PAPP)-A与解整合素-金属蛋白酶(ADAM)12。比较单独运用超声检查或是血清学检测与超声联合血清学检查对胎儿染色体异常的筛查效果。结果 3286例孕早期产前筛查的孕妇中超声检测出277例,血清学检测阳性202例,二者联合检查阳性132例。对3286例孕妇中高风险孕妇进行羊水穿刺染色体核型分析或低风险孕妇进行产后随访得出染色体异常15例,其中21-三体8例、18-三体2例,13-三体1例,45X 2例,三倍体1例,染色体片段异常1例。超声联合血清学指标进行产前筛查,胎儿染色体异常的检出率均高于单独运用超声或血清学指标检测(P<0.05),假阳性率均低于单独用用超声或血清学指标检测(P<0.05)。结论超声测定NT值及NB有无联合血清学指标AFP、fβ-h CG、PAPP-A及ADAM12进行孕早期产前筛查对胎儿染色体异常具有较高的诊断价值,使得产前筛查结果更为可靠,在产前筛查中具有较高的应用价值。
Objective To investigate the value of ultrasound combined with serological detection during 11 ~ 13 + 6 weeks of pregnancy in the screening of fetal chromosomal abnormalities. Methods From March 2012 to April 2014, 3760 pregnant women of the first trimester were enrolled in this study. The thickness of NT and the nasal bone (NB) were measured by routine transabdominal sonography. Serological parameters Maternal serum alpha-fetoprotein (AFP) and free beta-human chorionic gonadotropin (fβ-hCG), as well as serum pregnancy-associated protein (PAPP) -A and anti-integrin- metalloproteinase (ADAM) Comparison of the use of ultrasonography alone or serological test combined with ultrasound serological test screening for fetal chromosomal abnormalities. Results A total of 2786 cases were detected by ultrasonography in 3286 pregnant women with prenatal screening and 202 cases were positive by serological test. The chromosomal karyotype analysis of amniocentesis or high risk pregnant women in 3286 pregnant women or low risk pregnant women were followed up for chromosomal abnormalities in 15 cases, of which 21 cases of trisomy 8, 18 cases of trisomy 2, 13 cases of trisomy 1 case, 2 cases of 45X, 1 case of triploid and 1 case of chromosomal abnormality. Ultrasound combined with serological markers for prenatal screening, detection rate of fetal chromosomal abnormalities were higher than the single use of ultrasound or serological detection (P <0.05), the false positive rate was lower than the single use of ultrasound or serological detection (P <0.05). Conclusion Ultrasonography NT value and NB with or without combined serological markers AFP, fβ-h CG, PAPP-A and ADAM12 prenatal screening for prenatal diagnosis of fetal chromosomal abnormalities have a higher diagnostic value, making prenatal screening results more For reliable, prenatal screening has a high value.