Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal

Science Translational Medicine

Volumn 8, Issue 363, 2016, Pages

  Jain, Chandni V ^a   Kadam, Leena ^a   Van Dijk, Marie ^b   Kohan Ghadr, Hamid Reza ^a   Kilburn, Brian A ^a   Hartman, Craig ^c   Mazzorana, Vicki ^c   Visser, Allerdien ^b   Hertz, Michael ^a   Bolnick, Alan D ^a   Fritz, Rani ^a   Armant, D Randall ^a,d   Drewlo, Sascha ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Safe and Sound for Women   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CELL FREE NUCLEIC ACID; MICROSATELLITE DNA;

ARTICLE; CELL ISOLATION; DNA ISOLATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; NEXT GENERATION SEQUENCING; NON INVASIVE PROCEDURE; PAPANICOLAOU TEST; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TROPHOBLAST; UTERINE CERVIX; X CHROMOSOME; Y CHROMOSOME; CYTOLOGY; DNA MUTATIONAL ANALYSIS; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; HIGH THROUGHPUT SEQUENCING; HUMAN; METABOLISM; MUTATION; PATHOLOGY; PLACENTA; PREGNANCY; PRENATAL CARE; PRENATAL DIAGNOSIS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

CELL-FREE NUCLEIC ACIDS; DNA MUTATIONAL ANALYSIS; FEMALE; FETUS; GENOTYPE; GESTATIONAL AGE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MICROSATELLITE REPEATS; MUTATION; PLACENTA; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL CARE; PRENATAL DIAGNOSIS; TROPHOBLASTS;

EID: 84994493623     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aah4661     Document Type: Article

References (33)

1. R. J. Wapner, Invasive prenatal diagnostic techniques. Semin. Perinatol. 29, 401-404 (2005).
2. F. Mujezinovic, Z. Alfirevic, Procedure-related complications of amniocentesis and chorionic villous sampling: A systematic review. Obstet. Gynecol. 110, 687-694 (2007).
3. K. Sermon, A. Van Steirteghem, I. Liebaers, Preimplantation genetic diagnosis. Lancet 363, 1633-1641 (2004).
4. M. M. Gil, M. S. Quezada, R. Revello, R. Akolekar, K. H. Nicolaides, Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: Updated meta-Analysis. Ultrasound Obstet. Gynecol. 45, 249-266 (2015).
5. C. Rodeck, B. Tutschek, J. Sherlock, J. Kingdom, Methods for the transcervical collection of fetal cells during the first trimester of pregnancy. Prenat. Diagn. 15, 933-942 (1995).
6. L. S. Chitty, D. W. Bianchi, Noninvasive prenatal testing: The paradigm is shifting rapidly. Prenat. Diagn. 33, 511-513 (2013).
7. F. C. K. Wong, Y. M. D. Lo, Prenatal diagnosis innovation: Genome sequencing of maternal plasma. Annu. Rev. Med. 67, 419-432 (2016).
8. E. Wang, A. Batey, C. Struble, T. Musci, K. Song, A. Oliphant, Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat. Diagn. 33, 662-666 (2013).
9. A. N. Barrett, T. C. R. McDonnell, K. C. A. Chan, L. S. Chitty, Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia. Clin. Chem. 58, 1026-1032 (2012).
10. N. B. Y. Tsui, R. A. Kadir, K. C. A. Chan, C. Chi, G. Mellars, E. G. Tuddenham, T. Y. Leung, T. K. Lau, R. W. K. Chiu, Y. M. D. Lo, Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117, 3684-3691 (2011).
11. Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet. Gynecol. 126, e31-e37 (2015).
12. L. B. Shettles, Use of the Y chromosome in prenatal sex determination. Nature 230, 52-53 (1971).
13. M. Adinolfi, J. Sherlock, First trimester prenatal diagnosis using transcervical cells: An evaluation. Hum. Reprod. Update 3, 383-392 (1997).
14. A. N. Imudia, S. Kumar, M. P. Diamond, A. H. DeCherney, D. R. Armant, Transcervical retrieval of fetal cells in the practice of modern medicine: A review of the current literature and future direction. Fertil. Steril. 93, 1725-1730 (2010).
15. A. N. Imudia, Y. Suzuki, B. A. Kilburn, F. D. Yelian, M. P. Diamond, R. Romero, D. R. Armant, Retrieval of trophoblast cells from the cervical canal for prediction of abnormal pregnancy: A pilot study. Hum. Reprod. 24, 2086-2092 (2009).
16. J. M. Bolnick, B. A. Kilburn, S. Bajpayee, N. Reddy, R. Jeelani, B. Crone, N. Simmerman, M. Singh, M. P. Diamond, D. R. Armant, Trophoblast retrieval and isolation from the cervix (TRIC) for noninvasive prenatal screening at 5 to 20 weeks of gestation. Fertil. Steril. 102, 135-142.e6 (2014).
17. J. Holt, L. Stiltner, B. Jamieson, J. Fashner, Clinical inquiries. Should a nylon brush be used for Pap smears from pregnant women? J. Fam. Pract. 54, 463-464 (2005).
18. M. F. Paraiso, K. Brady, R. Helmchen, T. W. Roat, Evaluation of the endocervical Cytobrush and Cervex-Brush in pregnant women. Obstet. Gynecol. 84, 539-543 (1994).
19. R. Fritz, H. R. Kohan-Ghadr, A. Sacher, A. D. Bolnick, B. A. Kilburn, J. M. Bolnick, M. P. Diamond, S. Drewlo, D. R. Armant, Trophoblast retrieval and isolation from the cervix (TRIC) is unaffected by early gestational age or maternal obesity. Prenat. Diagn. 35, 1218-1222 (2015).
20. K. K. Kidd, A. J. Pakstis, W. C. Speed, E. L. Grigorenko, S. L. B. Kajuna, N. J. Karoma, S. Kungulilo, J.-J. Kim, R.-B. Lu, A. Odunsi, F. Okonofua, J. Parnas, L. O. Schulz, O. V. Zhukova, J. R. Kidd, Developing a SNP panel for forensic identification of individuals. Forensic Sci. Int. 164, 20-32 (2006).
21. J. J. Sanchez, C. Phillips, C. Børsting, K. Balogh, M. Bogus, M. Fondevila, C. D. Harrison, E. Musgrave-Brown, A. Salas, D. Syndercombe-Court, P. M. Schneider, A. Carracedo, N. Morling, A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis 27, 1713-1724 (2006).
22. J. D. Churchill, S. E. Schmedes, J. L. King, B. Budowle, Evaluation of the Illumina® Beta Version ForenSeq™ DNA Signature Prep Kit for use in genetic profiling. Forensic Sci. Int. Genet. 20, 20-29 (2016).
23. I. Pfeifer, A. Benachi, A. Saker, J. P. Bonnefont, H. Mouawia, L. Broncy, R. Frydman, M. L. Brival, B. Lacour, R. Dachez, P. Paterlini-Bréchot, Cervical trophoblasts for noninvasive single-cell genotyping and prenatal diagnosis. Placenta 37, 56-60 (2016).
24. C. Bussani, R. Cioni, A. Mattei, M. Fambrini, M. Marchionni, G. Scarselli, Prenatal diagnosis of common aneuploidies in transcervical samples using quantitative fluorescent-PCR analysis. Mol. Diagn. Ther. 11, 117-121 (2007).
25. C. Bussani, R. Cioni, B. Scarselli, F. Barciulli, S. Bucciantini, P. Simi, A. Fogli, G. Scarselli, Strategies for the isolation and detection of fetal cells in transcervical samples. Prenat. Diagn. 22, 1098-1101 (2002).
26. M. G. Katz-Jaffe, D. Mantzaris, D. S. Cram, DNA identification of fetal cells isolated fromcervical mucus: Potential for early non-invasive prenatal diagnosis. BJOG 112, 595-600 (2005).
27. D. Mantzaris, D. S. Cram, Potential of syncytiotrophoblasts isolated from the cervical mucus for early non-invasive prenatal diagnosis: Evidence of a vanishing twin. Clin. Chim. Acta 438, 309-315 (2015).
28. D. S. Goldman-Wohl, I. Ariel, C. Greenfield, D. Hochner-Celnikier, J. Cross, S. Fisher, S. Yagel, Lack of human leukocyte antigen-G expression in extravillous trophoblasts is associated with pre-eclampsia. Mol. Hum. Reprod. 6, 88-95 (2000).
29. A. Christianson, B. Modell, Medical genetics in developing countries. Annu. Rev. Genomics Hum. Genet. 5, 219-265 (2004).
30. D. W. Bianchi, D. Chudova, A. J. Sehnert, S. Bhatt, K. Murray, T. L. Prosen, J. E. Garber, L. Wilkins-Haug, N. L. Vora, S. Warsof, J. Goldberg, T. Ziainia, M. Halks-Miller, Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 314, 162-169 (2015).
31. K. H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova, D. Markova, Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat. Diagn. 33, 575-579 (2013).
32. R. Fritz, H.-R. Kohan-Ghadr, J. M. Bolnick, A. D. Bolnick, B. A. Kilburn, M. P. Diamond, S. Drewlo, D. R. Armant, Noninvasive detection of trophoblast protein signatures linked to early pregnancy loss using trophoblast retrieval and isolation from the cervix (TRIC). Fertil. Steril. 104, 339-346.e4 (2015).
33. J. M. Bolnick, H.-R. Kohan-Ghadr, R. Fritz, A. D. Bolnick, B. A. Kilburn, M. P. Diamond, D. R. Armant, S. Drewlo, Altered biomarkers in trophoblast cells obtained noninvasively prior to clinical manifestation of perinatal disease. Sci. Rep. 6, 32382 (2016).