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- Title
A case of placental trisomy 18 mosaicism causing a false negative NIPT result.
- Authors
Jiexia Yang; Yiming Qi; Fangfang Guo; Yaping Hou; Haishan Peng; Dongmei Wang; Haoxin OY; Aihua Yin
- Abstract
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3.0 mm ventricular septal defect. Along with cordocentesis at 33GA, the cord blood sample cytogenetics analysis showed a mos 47,XN,+18[61]/46,XN[39] T18 karyotype. Six placental biopsies confirmed that the chromosome 18 placenta chimerism ratio had changed from 33% to 72%. Ultimately, the pregnancy was interrupted at 34GA. Conclusions: We presented this case to highlight the need to clearly explain false positive or false negative results to patients. We believe that this information will also influence the development of future diagnostic test methodologies.
- Subjects
PRENATAL diagnosis; PREGNANCY tests; DNA; HEART abnormalities; GESTATIONAL age; CYTOGENETICS
- Publication
Molecular Cytogenetics (17558166), 2017, Vol 10, p1
- ISSN
1755-8166
- Publication type
Article
- DOI
10.1186/s13039-017-0341-5