TY - JOUR
T1 - On the road to replacing invasive testing with cell-based NIPT
T2 - five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement or mosaicism
AU - Vestergaard, Else Marie
AU - Singh, Ripudaman
AU - Schelde, Palle
AU - Hatt, Lotte
AU - Ravn, Katarina
AU - Christensen, Rikke
AU - Lildballe, Dorte Launholt
AU - Petersen, Olav Bjørn
AU - Uldbjerg, Niels
AU - Vogel, Ida
N1 - This article is protected by copyright. All rights reserved.
PY - 2017/11
Y1 - 2017/11
N2 - Objective: Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell-based non-invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations. Method: Blood samples were collected from high risk pregnancies in gestational week 12 + 1 to 12 + 5. Fetal trophoblast cells were enriched and stained using fetal cell specific antibodies. The enriched cell fraction was scanned, and fetal cells were picked using a capillary-based cell picking instrument. Subsequently, whole genome amplification (WGA) was performed on fetal cells, and the DNA was analyzed blindly by array comparative genomic hybridization (aCGH). Results: We present 5 cases where non-invasive cell-based prenatal test results are compared with aCGH results on chorionic villus samples (CVS), demonstrating aneuploidies including mosaicism, unbalanced translocations, subchromosomal deletions, or duplications. Conclusion: Aneuploidy and subchromosomal aberrations can be detected using fetal cells harvested from maternal blood. The method has the future potential of being offered as a cell-based NIPT with large high genomic resolution.
AB - Objective: Trophoblastic fetal cells harvested from maternal blood have the capacity to be used for copy number analyses in a cell-based non-invasive prenatal test (cbNIPT). Potentially, this will result in increased resolution for detection of subchromosomal aberrations due to high quality DNA not intermixed with maternal DNA. We present 5 selected clinical cases from first trimester pregnancies where cbNIPT was used to demonstrate a wide range of clinically relevant aberrations. Method: Blood samples were collected from high risk pregnancies in gestational week 12 + 1 to 12 + 5. Fetal trophoblast cells were enriched and stained using fetal cell specific antibodies. The enriched cell fraction was scanned, and fetal cells were picked using a capillary-based cell picking instrument. Subsequently, whole genome amplification (WGA) was performed on fetal cells, and the DNA was analyzed blindly by array comparative genomic hybridization (aCGH). Results: We present 5 cases where non-invasive cell-based prenatal test results are compared with aCGH results on chorionic villus samples (CVS), demonstrating aneuploidies including mosaicism, unbalanced translocations, subchromosomal deletions, or duplications. Conclusion: Aneuploidy and subchromosomal aberrations can be detected using fetal cells harvested from maternal blood. The method has the future potential of being offered as a cell-based NIPT with large high genomic resolution.
KW - Journal Article
UR - http://www.scopus.com/inward/record.url?scp=85031093832&partnerID=8YFLogxK
U2 - 10.1002/pd.5150
DO - 10.1002/pd.5150
M3 - Journal article
C2 - 28881392
SN - 0197-3851
VL - 37
SP - 1120
EP - 1124
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 11
ER -