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Srebniak, M.I.; Jehee, F.S.; Joosten, M.; Boter, M.; Valk, W.G. de; Helm, R. van der; ... ; Opstal, D. van (2021)

Non-invasive prenatal diagnosis for translocation carriers: YES please or NO go?

Article / Letter to editor
Introduction The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole-genome non-invasive prenatal screening (NIPS). Material and methods Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study. Results In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains. Conclusions This study supports the...Show moreIntroduction The presence of an unbalanced familial translocation can be reliably assessed in the cytotrophoblast of chorionic villi. However, carriers of a balanced translocation often decline invasive testing. This study aimed to investigate whether an unbalanced translocation can also be diagnosed in cell free DNA by whole-genome non-invasive prenatal screening (NIPS). Material and methods Pregnant women carrying a fetus with an unbalanced familial translocation, for whom NIPS as well as microarray data were available, were included in this retrospective assessment. NIPS was performed in the course of the TRIDENT study. Results In 12 cases, both NIPS and microarray data were available. In 10 of 12 cases the unbalanced translocation was correctly identified by NIPS without prior knowledge on parental translocation. One was missed because the fetal fraction was too low. One was missed because of technical restrictions in calling 16p gains. Conclusions This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.Show less
cell free DNA screening
copy number variant analysis
fetal fraction
non-invasive prenatal screening
unbalanced translocation
All authors
Srebniak, M.I.; Jehee, F.S.; Joosten, M.; Boter, M.; Valk, W.G. de; Helm, R. van der; Sistermans, E.A.; Voorhoeve, E.; Bhola, S.; Hoffer, M.J.V.; Hollander, N. den; Macville, M.V.E.; Opstal, D. van
Date
2021-09-01
Journal
Acta Obstetricia et Gynecologica Scandinavica
Volume
100
Issue
11
Pages
2036 - 2043
DOI
doi:10.1111/aogs.14256
Link
https://obgyn.onlinelibrary.wiley.com/doi/10.1111/aogs.14256