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Prenatal diagnosis for trisomy 18——analysis of 9 cases
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 5
- DOI:
- 10.3760/cma.j.issn.1007-9408.2006.05.002
- Key Word:
- 三体性;染色体,人,18对;超声检查,产前
Abstract： 目的 探讨利用孕妇血清筛查和胎儿超声筛查进行18三体综合征胎儿产前诊断的有效性.方法 对36例首诊主诉为产前筛查胎儿18三体高危、92例首诊主诉为胎儿超声有异常发现的孕18～32周孕妇共128例,进行羊膜腔穿刺羊水细胞培养、或脐血管穿刺脐血细胞培养染色体分析.结果 128例胎儿核型中,9例为18三体综合征,2例为其它染色体异常,染色体异常发现率为8.59%(11/128).首诊主诉为18三体高危发现18三体4例,异常发现率11.11%(4/36);首诊主诉胎儿超声异常发现18三体5例,其它染色体异常2例,异常发现率7.61%,其中2例18三体合并有筛查高危和超声异常. 结论 孕妇血清生化指标筛查结合胎儿超声检查是产前检出18三体胎儿的有效筛查手段.
- [1]许争峰,胡娅莉,朱瑞芳.改良羊水原位培养法进行产前诊断的研究[J].2003,(4).
- [2]Haddow JE,Neveux LM,Palomaki GE,etc.Maternal serum-integrated screening for trisomy 18 using both first- and second-trimester markers.[J].2003,23(3).
- [3]叶文虎(医学),赵寿元(遗传学),李璞(医学).现代临床遗传学[M].1996.
- [4]主编陆国辉.产前遗传病诊断[M].2002.
- [5]Huang R,Comstock CH,Lee W,etc.Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands.[J].2004,23(2).
- [6]A J, Staples,E F, Robertson,E, Ranieri,etc.A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome.[J].1991,49.
- [7]Kim MY.Prenatal diagnosis of trisomy 18: report of 30 cases.[J].2005,25(2).
- [8]Cunningham GC,Feuchtbaum LB,Lorey FW,etc.Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience.[J].2000,20(4).
- [9]Wyatt PR,Huang T,Meier C,etc.Accuracy of trisomy 18 screening using the second-trimester triple test.[J].2003,23(6).