Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2019
[A case of maternal 45,X/46,XX mosaicism detected by non-invasive prenatal testing].
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Tian Yuan, Zhang Linlin, Tian Weifang, Wu Yueli, Zheng Qinghua, Zhang Zhiying, Jia Liting
Аннотация
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.
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.