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妊娠中晚期产前诊断的快速核型分析。

Rapid karyotyping for prenatal diagnosis in the second and third trimesters of pregnancy.

作者信息

Basaran S, Miny P, Pawlowitzki I H, Horst J, Holzgreve W

机构信息

Institut für Humangenetik, Universität Münster, F.R.G.

出版信息

Prenat Diagn. 1988 May;8(4):315-20. doi: 10.1002/pd.1970080413.

Abstract

Direct chromosome preparations were performed on placental villi obtained by ultrasound-guided needle aspiration between 18 and 37 weeks of pregnancy in 53 patients. The sampling yielded a sufficient amount of tissue with a maximum of two, and in most cases one, insertions. Placental biopsy is easily performed in cases of severe oligohydrammnios, where fetal blood sampling is usually more difficult. Direct karyotyping of placental villi is faster than chromosome analysis from fetal blood or application of the pipette method on amniotic fluid cells, and currently represents the most rapid approach to prenatal diagnosis of chromosomal abnormalities from the first to the third trimester of pregnancy.

摘要

对53例妊娠18至37周经超声引导针吸获得的胎盘绒毛进行直接染色体制备。取样获得了足够的组织,最多有两处插入,大多数情况下为一处插入。在严重羊水过少的病例中,胎盘活检很容易进行,而胎儿采血通常更困难。胎盘绒毛的直接核型分析比胎儿血液染色体分析或羊水细胞吸管法更快,目前是妊娠早、中、晚期染色体异常产前诊断最快速的方法。

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