中国妇幼健康研究Issue(3)：529-530,2.DOI:10.3969/j.issn.1673-5293.2014.03.069
限制性胎盘嵌合体1例分析
A case of confined placental mosaicism
袁慧珍 1刘艳秋 2包娟3
作者信息
- 1. 南昌大学医学院，江西南昌330006
- 2. 江西省妇幼保健院，江西南昌330006
- 3. 江西省妇幼保健院，江西南昌330006
- 折叠
摘要
Abstract
Objective To conduct prenatal diagnosis of positive 21-trisomy syndrome results by DNA noninvasive prenatal testing . Methods Amniocentesis , cordocentesis and fluorescence in situ hybridization ( FISH ) were used to analyze fetal karyotype .High-throughput DNA technique was applied to detect placenta , and the causes of DNA noninvasive prenatal testing of false positive results were analyzed.Results The result of amniocentesis was 46, XN/47, XN, +21(141/5), shown as 21-trisomy mosaicism karyotype.The FISH results and cordocentesis were normal .Placental location and maternal fetal surface were normal karyotype with 21-trisomy mosaicism karyotype , while fetal placenta and umbilical cord tissue surface were normal karyotype , which was known as confined placental mosaicism (CPM).Conclusion There are false positive results in DNA noninvasive prenatal testing .DNA noninvasive positive results have to be determined by amniocentesis and (or) cordocentesis.Amniocentesis suspected mosaicism needs to be diagnosed by cordocentesis .关键词
限制性胎盘嵌合体/21-三体综合征/无创DNA检查/羊膜腔穿刺/脐血穿刺/荧光原位杂交Key words
confined placental mosaicism ( CPM)/21-trisomy syndrome/DNA noninvasive prenatal testing/amniocentesis/cordocentesis/fluorescence in situ hybridization ( FISH)分类
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袁慧珍,刘艳秋,包娟..限制性胎盘嵌合体1例分析[J].中国妇幼健康研究,2014,(3):529-530,2.
