Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18
Joint Authors
Hochstenbach, R.
Page-Christiaens, G. C. M. L.
van Oppen, A. C. C.
Lichtenbelt, K. D.
van Harssel, J. J. T.
Brouwer, T.
Manten, G. T. R.
van Zon, P.
Elferink, M.
Kusters, K.
Akkermans, O.
Ploos van Amstel, J. K.
Schuring-Blom, G. H.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-07
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Noninvasive prenatal testing (NIPT) validation studies show high sensitivity and specificity for detection of trisomies 13, 18, and 21.
False negative cases have rarely been reported.
We describe a false negative case of trisomy 13 and another of trisomy 18 in which NIPT was commercially marketed directly to the clinician.
Both cases came to our attention because a fetal anatomy scan at 20 weeks of gestation revealed multiple anomalies.
Karyotyping of cultured amniocytes showed nonmosaic trisomies 13 and 18, respectively.
Cytogenetic investigation of cytotrophoblast cells from multiple placental biopsies showed a low proportion of nontrisomic cells in each case, but this was considered too small for explaining the false negative NIPT result.
The discordant results also could not be explained by early gestational age, elevated maternal weight, a vanishing twin, or suboptimal storage or transport of samples.
The root cause of the discrepancies could, therefore, not be identified.
The couples involved experienced difficulties in accepting the unexpected and late-adverse outcome of their pregnancy.
We recommend that all parties involved in caring for couples who choose NIPT should collaborate to clarify false negative results in order to unravel possible biological causes and to improve the process of patient care from initial counseling to communication of the result.
American Psychological Association (APA)
Hochstenbach, R.& Page-Christiaens, G. C. M. L.& van Oppen, A. C. C.& Lichtenbelt, K. D.& van Harssel, J. J. T.& Brouwer, T.…[et al.]. 2015. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1058519
Modern Language Association (MLA)
Hochstenbach, R.…[et al.]. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18. Case Reports in Genetics No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1058519
American Medical Association (AMA)
Hochstenbach, R.& Page-Christiaens, G. C. M. L.& van Oppen, A. C. C.& Lichtenbelt, K. D.& van Harssel, J. J. T.& Brouwer, T.…[et al.]. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1058519
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058519