超声软指标咨询...ppt

文档介绍：超声软指标的遗传咨询
(Soft Markers: So What?)
广州市妇婴医院产前诊断中心
心室内强光点
(Echogenic intracardiac focus, EICF
心室内强光点
(Echogenic intracardiac focus, EICF
左心室:88%
右心室:7%
左右心室:7%
发生率:%to12%(亚洲人比西
方人常见)
o其它:与先心无关
心室内强光点
(Echogenic intracardiac focus, EICF
与染色体异常的关联( Association
With Fetal Aneuploidy)
o在高危人群:LR28
o在低危人群:LRs0-
o平均:LR20
o右心室、双心室或多个要较单个左心室危
险度高
心室内强光点
(Echogenic intracardiac focus, EICF
遗传咨询( Recommendation)
o孤立的EICF,若染色体风险<1/600,无需
进一步处理
o孤立的EICF,若染色体风险>1/600,考虑
羊穿
o右心室、双心室或多个EICF,考
羊穿
肠回声增强
(Echogenic bowel)
肠回声增强
(Echogenic bowel
o发生率:%-24%
O Grade1:比骨质回声弱
O Grade2:与骨质回声相当
O Grade3:比骨质回声更强
肠回声增强
(Echogenic bowel
与染色体异常的关联( Association
With Fetal Aneuploidy)
oLR:6(CI27-6.)
肠回声增强
(Echogenic bowel
与非染色体异常的关联( Association
With Nonchromosomal Abnormalities
cⅴ stic fibrosis
o congenital infection
ntra-amniotic bleeding
o congenital malformations of the bo
肠回声增强
(Echogenic bowel
遗传咨询( Recommendations)
o Grade1无需进一步处理
o Grade2and3与染色体和非染色体异常有
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