Objectives: To explore the utility of amniotic cell karyotype analysis in combined with chromosome microarray analysis in prenatal diagnosis. Methods: Chromosome microarray analysis (CMA) and amniotic cell karyotype analysis were accepted by a pregnant woman who carried a fetus with chromosome 15 aneuploidy suggested by non-invasive prenatal test (NIPT). Later on, the woman chose abortion because ultrasound detection had diagnosed that the fetus manifested hypospadias, long bone dysplasia, and abnormal vasa umbilicalis. The placenta, aborted fetus’s tissues and organs were collected and verified by fluorescence in situ hybridization (FISH) technique to confirm the prenatal diagnosis. Results: Karyotype analysis of amniotic cell found only one 47, XY, +15 cell versus 49 normal cells. CMA of amniotic fluid sample indicated that there is a 75.9 Mb copy number gain on 15q11.2q26.3. FISH results of the placenta and fetal tissues from multiple organs showed that the proportion of trisomy 15 cells in placenta is significantly higher than which in other parts of the fetus. Conclusion: For fetuses with chromosome 15 aneuploidy indicated by NIPT, amniotic karyotype analysis in combined with chromosome microarray analysis could be a suitable solution for genetic diagnosis.
NIPT, Chromosome Microarray Analysis, Karyotype Analysis, FISH, Chimeric Trisomy 15
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