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Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype
Author(s) -
Van Opstal Diane,
Veen Stefanie,
Joosten Marieke,
Diderich Karin E.M.,
Govaerts Lutgarde C.P.,
Polak Joke,
Koetsveld Nicole,
Boter Marjan,
Go Attie T.J.I.,
Papatsonis Dimitri N.M.,
Prinsen Krista,
Hoefsloot Lies H.,
Srebniak Malgorzata I.
Publication year - 2019
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5531
Subject(s) - karyotype , biology , chromosome aberration , chromosome , chorionic villi , cytotrophoblast , comparative genomic hybridization , snp array , chorionic villus sampling , fetus , genetics , prenatal diagnosis , placenta , pregnancy , gene , genotype , single nucleotide polymorphism
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.