排序方式: 共有2条查询结果,搜索用时 31 毫秒
1
1.
2.
M. Katharine Rudd Justin B. Schleede Sabrina R. Williams Kristy Lee Jennifer Laffin Romela Pasion Peter R. Papenhausen 《黑龙江环境通报》2018,38(12):920-923
Noninvasive prenatal testing accurately detects trisomy for chromosomes 13, 21, and 18, but has a significantly lower positive predictive value for monosomy X. Discordant monosomy X results are often assumed to be due to maternal mosaicism, usually without maternal follow-up. We describe a case of monosomy X-positive noninvasive prenatal testing that was discordant with the 46,XX results from amniocentesis and postnatal testing. This monosomy X pregnancy doubled the single X chromosome, leading to 45,X/46,XX mosaicism in the placenta and uniparental isodisomy X in the amniotic fluid. Thus, at least some discordant monosomy X results are due to true mosaicism in the pregnancy, which has important implications for clinical outcome and patient counseling. 相似文献
1