超声检测NT联合无创产前基因检测早期筛查胎儿染色体非整倍体异常的价值.doc

超声检测NF联合无创产前基因检测早期筛查胎儿染色体非整倍体异常的价值 [摘要]目的：为了评估超声检测NF联合无创产前基因检测早期筛查胎儿染色体非整倍体异常的价值。方法：回顾性总结在我院进行产前检查，并通过病理学检测确诊为胎儿染色体非整倍体异常产妇20例，所有产妇再进行超声检测NF联合无创产前基因检测，结果与病理学检查结果对比。结果：20例经羊水细胞的染色体核型分析结果确诊为染色体非整倍体异常产妇，其超声出现异常现象者17例（85%），而三例超声无异常表现的病理学结果显示均为21-三体综合症胎儿。超声显示异常的17例产妇中，有4例（23.5%）为单发性畸形，有13例（76.5%）为多发性畸形。而无创DNA检测与病理学检测结果吻合，但其无法判断胎儿的具体疾病情况。结论：超声检测NF联合无创产前基因检测早期筛查胎儿染色体非整倍体异常具有较高的临床应用价值。 [关键词]超声，基因检测，染色体，非整倍体异常 Ultrasonic detection of NF combined with non-invasive prenatal gene diagnosis for early screening for fetal chromosomal aneuploidy abnormality value [Abstract]Objective: To evaluate the ultrasound detection of NF combined with non-invasive prenatal gene diagnosis for early screening for fetal chromosomal aneuploidy abnormality value. Methods: retrospective analysis of prenatal examination in our hospital, and the pathological examination confirmed the diagnosis of fetal chromosome of 20 cases with non euploid abnormal maternal, all women to ultrasonic detection of NF combined with non-invasive prenatal genetic testing, results and pathological examination results. Results: 20 cases with chromosome analysis of amniotic fluid cells were diagnosed as chromosome aneuploidy abnormality parturient, the ultrasonic appearance of 17 cases of abnormal phenomena (85%), three cases of pathological and without abnormal ultrasound performance results are 21- trisomy syndrome fetus. Ultrasound showed 17 cases were abnormal, 4 cases (23.5%) were single malformation, 13 cases (76.5%) for multiple malformations. While the DNA noninvasive detection and pathological examination results, but it can not determine the specific disease of the fetus. Conclusion: ultrasound detection of NF combined with non-invasive prenatal gene diagnosis for early screening for fetal chromosomal aneuploidy abnormality has high value in clinical application. [Keywords]ultrasound detection, gene, chromosome, aneuploidy abnormality 胎儿染色体非整倍体异常是不良妊娠结局的重要影响因素之一，产前快速、准确、无创性的畸胎确诊方法对于产妇及时终止妊娠和提高胎儿出生质量具有重要的意义[1]。近几年来，