Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
revised:
11
01
2024
received:
16
08
2023
accepted:
18
01
2024
medline:
18
3
2024
pubmed:
27
2
2024
entrez:
27
2
2024
Statut:
ppublish
Résumé
To clinically assess a cell-based noninvasive prenatal genetic test using sequence-based copy number analysis of single trophoblasts from maternal blood. Blood was obtained from 401 (243 + 158) individuals (8-22 weeks) and shipped overnight. Red cells were lysed, and nucleated cells stained for cytokeratin (CK) and CD45 and enriched for positive CK staining. Automated scanning was used to identify and pick single CK Blood was obtained from 243 pregnancies scheduled for CVS or amniocentesis. Luna results were normal for 160 singletons while 15 cases were abnormal (14 aneuploidy and one monozygotic twin with Williams syndrome deletion). The deletion was confirmed in both fetuses. Placental mosaicism occurred in 7 of 236 (3.0%) Luna cases and in 3 of 188 (1.6%) CVS cases (total 4.6%). No scorable trophoblasts were recovered in 32 of 236 usable samples. Additionally, 158 low-risk pregnancies not undergoing CVS/amniocentesis showed normal results in 133 cases. Seven had aneuploidy results, and there were three likely pathogenic deletions/duplications, including one15q11-q13 deletion. Although the sample size is modest and statistically accurate measures of test performance are not possible, the Luna test detected aneuploidy and deletions/duplications based on concordance with CVS/amniocentesis.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
304-316Subventions
Organisme : Luna Genetics, Inc
ID : N/A
Informations de copyright
© 2024 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
Salomon LJ, Sotiriadis A, Wulff CB, Odibo A, Akolekar R. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound Obstet Gynecol. 2019;54(4):442-451. https://doi.org/10.1002/uog.20353
Walknowska J, Conte FA, Grumbach MM. Practical and theoretical implications of fetal-maternal lymphocyte transfer. Lancet. 1969;1(7606):1119-1122. https://doi.org/10.1016/s0140-6736(69)91642-0
Hatt L, Brinch M, Singh R, et al. A new marker set that identifies fetal cells in maternal circulation with high specificity. Prenat Diagn. 2014;34(11):1066-1072. https://doi.org/10.1002/pd.4429
Hatt L, Brinch M, Singh R, et al. Characterization of fetal cells from the maternal circulation by microarray gene expression analysis--could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis? Fetal Diagn Ther. 2014;35(3):218-227. https://doi.org/10.1159/000356073
Navin N, Kendall J, Troge J, et al. Tumour evolution inferred by single-cell sequencing. Nature. 2011;472(7341):90-94. https://doi.org/10.1038/nature09807
Bi W, Breman A, Shaw CA, et al. Detection of >/=1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat Diagn. 2012;32(1):10-20. https://doi.org/10.1002/pd.2855
Breman AM, Chow JC, U'Ren L, et al. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016;36(11):1009-1019. https://doi.org/10.1002/pd.4924
Kolvraa S, Singh R, Normand EA, et al. Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women. Prenat Diagn. 2016;36(12):1127-1134. https://doi.org/10.1002/pd.4948
Hou S, Chen JF, Song M, et al. Imprinted NanoVelcro microchips for isolation and characterization of circulating fetal trophoblasts: toward noninvasive prenatal diagnostics. ACS Nano. 2017;11(8):8167-8177. https://doi.org/10.1021/acsnano.7b03073
Vossaert L, Wang Q, Salman R, et al. Validation studies for single circulating trophoblast genetic testing as a form of noninvasive prenatal diagnosis. Am J Hum Genet. 2019;105(6):1262-1273. https://doi.org/10.1016/j.ajhg.2019.11.004
Jeppesen LD, Lildballe DL, Hatt L, et al. Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: detection of the 50 most common disease-causing variants. Prenat Diagn. 2023;43(1):3-13. https://doi.org/10.1002/pd.6276
Chang L, Zhu X, Li R, et al. A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells. Prenat Diagn. 2021;41(4):400-408. https://doi.org/10.1002/pd.5796
Doffini A, Forcato C, Mangano C, et al. Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling. Prenat Diagn. 2023;43(1):14-27. https://doi.org/10.1002/pd.6275
Hatt L, Ravn K, Dahl Jeppesen L, et al. How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark. Prenat Diagn. 2023;43(7):854-864. https://doi.org/10.1002/pd.6387
Bianchi DW. Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol. 1999;105(3):574-583. https://doi.org/10.1046/j.1365-2141.1999.01383.x
Beaudet AL. Using fetal cells for prenatal diagnosis: history and recent progress. Am J Med Genet C Semin Med Genet. 2016;172(2):123-127. https://doi.org/10.1002/ajmg.c.31487
Vossaert L, Chakchouk I, Zemet R, Van den Veyver IB. Overview and recent developments in cell-based noninvasive prenatal testing. Prenat Diagn. 2021;41(10):1202-1214. https://doi.org/10.1002/pd.5957
Fernandez T, Morgan T, Davis N, et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2004;74(6):1286-1293. https://doi.org/10.1086/421474
Fu J, Wang T, Fu Z, et al. Case report: a case report and literature review of 3p deletion syndrome. Front Pediatr. 2021;9:618059. https://doi.org/10.3389/fped.2021.618059
Martins M, Arantes R, Botelho P, Souto M, Moutinho O, Pinto Leite R. Familiar del3p syndrome: the uncertainty of the prognosis. A case report. Clin Case Rep. 2021;9(4):2365-2368. https://doi.org/10.1002/ccr3.4036
Nagamani SC, Erez A, Bader P, et al. Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011;19(3):280-286. https://doi.org/10.1038/ejhg.2010.184
Ullmann R, Turner G, Kirchhoff M, et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat. 2007;28(7):674-682. https://doi.org/10.1002/humu.20546
Ramalingam A, Zhou XG, Fiedler SD, et al. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet. 2011;56(7):541-544. https://doi.org/10.1038/jhg.2011.42
Dagli AI, Mathews J, Williams CA. Angelman syndrome. In: Adam MP, Mirzaa GM, Pagon RA, eds. GeneReviews((R)); 1993.
Driscoll DJ, Miller JL, Cassidy SB. Prader-willi syndrome. In: Adam MP, Mirzaa GM, Pagon RA, eds. GeneReviews((R)); 1993.
Hui L, Bianchi DW. Fetal fraction and noninvasive prenatal testing: what clinicians need to know. Prenat Diagn. 2020;40(2):155-163. https://doi.org/10.1002/pd.5620
Kruckow S, Schelde P, Hatt L, et al. Does maternal body mass index affect the quantity of circulating fetal cells available to use for cell-based noninvasive prenatal test in high-risk pregnancies? Fetal Diagn Ther. 2019;45(5):353-356. https://doi.org/10.1159/000492028
Krabchi K, Gadji M, Forest JC, Drouin R. Quantification of all fetal nucleated cells in maternal blood in different cases of aneuploidies. Clin Genet. 2006;69(2):145-154. https://doi.org/10.1111/j.1399-0004.2005.00564.x
Zhou L, Li H, Xu C, Xu X, Zheng Z, Tang S. Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array. Mol Cytogenet. 2023;16(1):13. https://doi.org/10.1186/s13039-023-00648-y
Gu S, Jernegan M, Van den Veyver IB, Peacock S, Smith J, Breman A. Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenat Diagn. 2018;38(11):858-865. https://doi.org/10.1002/pd.5342
Lund ICB, Becher N, Graakjaer J, et al. Mosaicism for copy number variations in the placenta is even more difficult to interpret than mosaicism for whole chromosome aneuploidy. Prenat Diagn. 2021;41(6):668-680. https://doi.org/10.1002/pd.5938
Emad A, Bouchard EF, Lamoureux J, et al. Validation of automatic scanning of microscope slides in recovering rare cellular events: application for detection of fetal cells in maternal blood. Prenat Diagn. 2014;34(6):538-546. https://doi.org/10.1002/pd.4345
Hou S, Chen JF, Song M, et al. Correction to imprinted NanoVelcro microchips for isolation and characterization of circulating fetal trophoblasts: toward noninvasive prenatal diagnostics. ACS Nano. 2017;11(12):12863. https://doi.org/10.1021/acsnano.7b07188
Idarraga GDO, Suarez IDM, Osorio KGH, Corredor DMD, Redondo JCP, Yepes RG. Results of preimplantation genetic testing for aneuploidy (PGT-A) in a cohort of 319 embryos: experience in a fertility clinic in Colombia. JBRA Assist Reprod. 2022;26(2):280-287.
Eggenhuizen GM, Go A, Koster MPH, Baart EB, Galjaard RJ. Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature. Hum Reprod Update. 2021;27(5):885-903. https://doi.org/10.1093/humupd/dmab009
van Prooyen Schuurman L, Sistermans EA, Van Opstal D, et al. Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: follow-up results of the TRIDENT-2 study. Am J Hum Genet. 2022;109(7):1344. https://doi.org/10.1016/j.ajhg.2022.06.003
Xiang J, Li R, He J, et al. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy. Am J Obstet Gynecol MFM. 2023;5(1):100790. https://doi.org/10.1016/j.ajogmf.2022.100790
Chang L, Jiao H, Chen J, et al. Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases. Life Sci Alliance. 2023;6(5):e202201761. https://doi.org/10.26508/lsa.202201761