A case of maternal 45, X/46, XX mosaicism detected by non-invasive prenatal testing / 中华医学遗传学杂志

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.

A case of maternal 45,X/46,XX mosaicism detected by non-invasive prenatal testing / 中华医学遗传学杂志

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.