A case of maternal 45, X/46, XX mosaicism detected by non-invasive prenatal testing

VernacularTitle: 孕妇外周血胎儿游离DNA产前检测发现母体45，X/46，XX嵌合体一例
Author: Yuan TIAN ¹ ; Linlin ZHANG ; Weifang TIAN ; Yueli WU ; Qinghua ZHENG ; Zhiying ZHANG ; Liting JIA
Author Information

1. Department of Clinical Laboratory, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Publication Type:Clinical Trail
Keywords: Noninvasive prenatal testing; Chromosome microarray analysis; Chromosome karyotype analysis; Mosaicism
From: Chinese Journal of Medical Genetics 2019;36(11):1120-1122
CountryChina
Language:Chinese
Abstract: Objective:To report on a case of maternally derived 45, X mosaicism detected by non-invasive prenatal testing (NIPT).
Methods:Fetal sex chromosomal abnormality was detected by NIPT. Maternally derived 45, X mosaicism was confirmed by chromosome karyotype analysis. Fetal sex chromosome aneuploidy was detected by amniotic fluid chromosome microarray analysis.
Results:A maternal 45, X mosaicism was diagnosed. The fetus was confirmed to be normal.
Conclusion:Maternal 45, X masaicism can be diagnosed by NIPT.