Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
D Van Opstal, S van Veen, M Joosten… - Prenatal …, 2019 - Wiley Online Library
D Van Opstal, S van Veen, M Joosten, KEM Diderich, LCP Govaerts, J Polak…
Prenatal Diagnosis, 2019•Wiley Online LibraryObjective Placental cytogenetic studies may reveal the origin of discordant noninvasive
prenatal testing (NIPT). We performed placental studies to elucidate discordances between
NIPT showing a structural chromosome aberration and the fetus having a different
chromosome aberration in three cases. Method Diagnostic testing with genomic SNP
microarray was performed in three cases with NIPT showing a duplication on 4q (case 1), a
terminal deletion of 13q (case 2), and a terminal deletion of 15q (case 3). Placental studies …
prenatal testing (NIPT). We performed placental studies to elucidate discordances between
NIPT showing a structural chromosome aberration and the fetus having a different
chromosome aberration in three cases. Method Diagnostic testing with genomic SNP
microarray was performed in three cases with NIPT showing a duplication on 4q (case 1), a
terminal deletion of 13q (case 2), and a terminal deletion of 15q (case 3). Placental studies …
Objective
Placental cytogenetic studies may reveal the origin of discordant noninvasive prenatal testing (NIPT). We performed placental studies to elucidate discordances between NIPT showing a structural chromosome aberration and the fetus having a different chromosome aberration in three cases.
Method
Diagnostic testing with genomic SNP microarray was performed in three cases with NIPT showing a duplication on 4q (case 1), a terminal deletion of 13q (case 2), and a terminal deletion of 15q (case 3). Placental studies involved SNP array analysis of cytotrophoblast and mesenchymal core of chorionic villi of four placental quadrants. Clinical follow‐up was performed as well.
Results
Amniotic fluid revealed a different structural chromosome aberration than predicted by NIPT: a terminal 2q deletion (case 1), a segmental uniparental isodisomy of 13q (case 2), and a terminal duplication of 15q and of 13q (case 3). Placental studies revealed the aberration detected with NIPT in the cytotrophoblast, whereas the fetal karyotype was confirmed in the placental mesenchymal core.
Conclusion
Our study shows that targeted cytogenetic investigations for confirmation of NIPT showing a microscopically visible structural chromosome aberration should be avoided, since another aberration, even a submicroscopic one or one involving another chromosome, may be present in the fetus.
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