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1.
Chinese Journal of Medical Genetics ; (6): 1120-1122, 2019.
Article in Chinese | WPRIM | ID: wpr-776732

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.


Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Karyotyping , Mosaicism , Prenatal Diagnosis , Sex Chromosome Aberrations
2.
Chinese Journal of Medical Genetics ; (6): 1120-1122, 2019.
Article in Chinese | WPRIM | ID: wpr-800868

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.

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