Noninvasive prenatal diagnosis of fetal aneuploidies and Mendelian disorders: new innovative strategies
Abstract
The application of recent technical developments, such as digital PCR or shot-gun sequencing, for the analysis of cell-free fetal DNA, have indicated that the long-sought goal of the noninvasive detection of Down syndrome may finally be attained. Although these methods are still cumbersome and not high throughput, they provide a paradigm shift in prenatal diagnosis, as they could effectively pronounce the end of invasive procedures, such as amniocentesis or chorionic villous sampling for the detection of such fetal anomalies. However, it remains to be determined how suitable these approaches are for the detection of more subtle fetal genetic alterations, such as those involved in hereditary Mendelian disorders (e.g., thalassemia and cystic fibrosis). New technical developments, such as microfluidics and reliable automated scanning microscopes, have indicated that it may be possible to efficiently retrieve and examine circulating fetal cells. As these contain the entire genomic complement of the fetus, future developments may include the noninvasive determination of the fetal karyotype.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The discovery of cell free DNA (cfDNA) in blood plasma has provided a simple source of genetic material for pre-natal and tumour diagnosis.
“The discovery of cell free DNA (cfDNA) in blood plasma has provided a simple source of genetic material for pre-natal and tumour diagnosis (13–18) that could potentially enable routine minimally invasive sampling for subsequent CNV analysis.”
From Comparison of microfluidic digital PCR and conventional quantitative PCR for measuring copy number variation (2012) · cites this paper as [15]
Cites
Presence of fetal DNA in maternal plasma and serum
Lo, Y. M. D., Corbetta, N., Chamberlain, P. F., Rai, V., Sargent, I. L., Redman, C. W., & Wainscoat, J. S. (1997) · The Lancet · doi:10.1016/s0140-6736(97)02174-0 · Cited by 3,129 · see citing works
Vogelstein, B., & Kinzler, K. W. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.16.9236 · Cited by 1,770 · see citing works
Lo, Y. M. D., Tein, M., Lau, T. K., Haines, C. J., Leung, T. N., Poon, P. M. K., Wainscoat, J. S., Johnson, P. J., Chang, A. M. Z., & Hjelm, N. M. (1998) · The American Journal of Human Genetics · doi:10.1086/301800 · Cited by 1,645 · see citing works
Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum
Bianchi, D. W., Zickwolf, G. K., Weil, G. J., Sylvester, S., & DeMaria, M. A. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.2.705 · Cited by 1,264 · see citing works
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808319105 · Cited by 1,110 · see citing works
Chiu, R. W. K., Chan, K. C. A., Gao, Y., Lau, V. Y. M., Zheng, W., Leung, T. Y., Foo, C. H. F., Xie, B., Tsui, N. B. Y., Lun, F. M. F., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810641105 · Cited by 940 · see citing works
BEAMing: single-molecule PCR on microparticles in water-in-oil emulsions
Diehl, F., Li, M., He, Y., Kinzler, K. W., Vogelstein, B., & Dressman, D. C. (2006) · Nature Methods · doi:10.1038/nmeth898 · Cited by 496 · see citing works
Herzenberg, L. A., Bianchi, D. W., Schröder, J., Cann, H. M., & Iverson, G. M. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.3.1453 · Cited by 439 · see citing works
Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma
Lun, F. M. F., Chiu, R. W. K., Chan, K. C. A., Leung, T. Y., Lau, T. K., & Lo, Y. M. D. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2008.111385 · Cited by 435 · see citing works
Digital PCR for the molecular detection of fetal chromosomal aneuploidy
Lo, Y. M. D., Lun, F. M. F., Chan, K. C. A., Tsui, N. B. Y., Chong, K. C., Lau, T. K., Leung, T. Y., Zee, B. C.-Y., Cantor, C. R., & Chiu, R. W. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705765104 · Cited by 434 · see citing works
mRNA of placental origin is readily detectable in maternal plasma
Ng, E. K. O., Tsui, N. B. Y., Lau, T. K., Leung, T. N., Chiu, R. W. K., Panesar, N. S., Lit, L. C. W., Chan, K.-W., & Lo, Y. M. D. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0637450100 · Cited by 383 · see citing works
Yung, T., Chan, K. C. A., Mok, T. S. K., TONG, J. H. M., To, K., & Lo, Y. M. D. (2009) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-2622 · Cited by 381 · see citing works
Botezatu, I. V., Serdyuk, O. I., Потапова, Г. И., Shelepov, V. P., Alechina, R. P., Molyaka, Y., Vs, A., Bazin, I. S., Garin, A. M., Narimanov, M., et al. (2000) · Clinical Chemistry · doi:10.1093/clinchem/46.8.1078 · Cited by 379 · see citing works
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
Lo, Y. M. D., Tsui, N. B. Y., Chiu, R. W. K., Lau, T. K., Leung, T. N., Heung, M. M. S., Gerovassili, A., Jin, Y., Nicolaides, K. H., Cantor, C. R., et al. (2007) · Nature Medicine · doi:10.1038/nm1530 · Cited by 377 · see citing works
Lun, F. M. F., Tsui, N. B. Y., Chan, K. C. A., Leung, T. Y., Lau, T. K., Charoenkwan, P., Chow, K. C., Lo, W. Y. W., Wanapirak, C., Sanguansermsri, T., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810373105 · Cited by 355 · see citing works
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
Bianchi, D. W., Simpson, J. L., Jackson, L. G., Elias, S., Holzgreve, W., Evans, M. I., Dukes, K. A., SULLIVAN, L. M., Klinger, K. W., Bischoff, F. Z., et al. (2002) · Prenatal Diagnosis · doi:10.1002/pd.347 · Cited by 345 · see citing works
Self-citationDetection of the placental epigenetic signature of the maspin gene in maternal plasma
Chim, S. S. C., Tong, Y. K., Chiu, R. W. K., Lau, T. K., Leung, T. N., Chan, L. Y. S., Oudejans, C. B. M., Ding, C., & Lo, Y. M. D. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503335102 · Cited by 327 · see citing works
Ekelund, C. K., Jørgensen, F. S., Petersen, O. B., Sundberg, K., & Tabor, A. (2008) · BMJ · doi:10.1136/bmj.a2547 · Cited by 311 · see citing works
Solving the “World-to-Chip” Interface Problem with a Microfluidic Matrix
Liu, J., Hansen, C. L., & Quake, S. R. (2003) · Analytical Chemistry · doi:10.1021/ac0346407 · Cited by 276 · see citing works
Microchimerism of presumed fetal origin in thyroid specimens from women: a case-control study
Srivatsa, B., Srivatsa, S., Johnson, K. L., Samura, O., Lee, S. L., & Bianchi, D. W. (2001) · The Lancet · doi:10.1016/s0140-6736(01)07099-4 · Cited by 274 · see citing works
O’Donoghue, K., Chan, J. K. Y., de la Fuente, J., Kennea, N. L., Sandison, A., Anderson, J. R., Roberts, I. A. G., & Fisk, N. M. (2004) · The Lancet · doi:10.1016/s0140-6736(04)16631-2 · Cited by 271 · see citing works
Transfer of Fetal Cells With Multilineage Potential to Maternal Tissue
Khosrotehrani, K. (2004) · JAMA · doi:10.1001/jama.292.1.75 · Cited by 268 · see citing works
Li, Y., Zimmermann, B. G., Rusterholz, C., Kang, A., Holzgreve, W., & Hahn, S. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.029835 · Cited by 246 · see citing works
Self-citationMethylated DNA Immunoprecipitation (MeDIP)
Mohn, F., Weber, M., Schübeler, D., & Roloff, T. C. (2008) · Methods in molecular biology · doi:10.1007/978-1-59745-522-0_5 · Cited by 239 · see citing works
Nanoliter scale PCR with TaqMan detection
Kalinina, O. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.10.1999 · Cited by 202 · see citing works
Prenatal diagnosis: progress through plasma nucleic acids
Lo, Y. M. D., & Chiu, R. W. K. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1982 · Cited by 197 · see citing works
Detection of Aneuploidy with Digital Polymerase Chain Reaction
Fan, H. C., & Quake, S. R. (2007) · Analytical Chemistry · doi:10.1021/ac0709394 · Cited by 179 · see citing works
Huang, R., Barber, T. A., Schmidt, M. A., Tompkins, R. G., Toner, M., Bianchi, D. W., Kapur, R., & Flejter, W. L. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2079 · Cited by 158 · see citing works
Tong, Y. K., Ding, C., Chiu, R. W. K., Gerovassili, A., Chim, S. S. C., Leung, T. Y., Leung, T. N., Lau, T. K., Nicolaides, K. H., & Lo, Y. M. D. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2006.076851 · Cited by 157 · see citing works
Twenty-year trends in prevalence and survival of Down syndrome
Irving, C. A., Basu, A. P., Richmond, S. W. J., Burn, J., & Wren, C. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.122 · Cited by 149 · see citing works
Tsui, N. B. Y., Chim, S. S. C., Chiu, R. W. K., Lau, T. K., Ng, E. K. O., Leung, T. N., Tong, Y. K., Chan, K. C. A., & Lo, Y. M. D. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.016881 · Cited by 139 · see citing works
First trimester prenatal diagnosis of trisomy 21 in fetal cells from maternal blood
Elias, S., Price, J. O., Dockter, M. E., Wachtel, S. S., Tharapel, A. T., Simpson, J. L., & Klinger, K. (1992) · The Lancet · doi:10.1016/0140-6736(92)93041-k · Cited by 138 · see citing works
Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood
Bianchi, D. W., Mahr, A., Zickwolf, G., Houseal, T. W., Flint, A. F., & Klinger, K. (1992) · Human Genetics · doi:10.1007/bf00220460 · Cited by 137 · see citing works
Chim, S. S. C., Jin, S., Lee, T. Y. H., Lun, F. M. F., Lee, W. S., Chan, L. Y. S., Jin, Y., Yang, N., Tong, Y. K., Leung, T. Y., et al. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2007.098731 · Cited by 133 · see citing works
Ntouroupi, T. G., Ashraf, S. Q., McGregor, S., Turney, B. W., Seppo, A., Kim, Y., Wang, X., Kilpatrick, M. W., Tsipouras, P., Tafas, T. P., et al. (2008) · British Journal of Cancer · doi:10.1038/sj.bjc.6604545 · Cited by 117 · see citing works
Li, Y., Christiaens, G. C. M. L., Gille, J. J. P., Holzgreve, W., & Hahn, S. (2006) · Prenatal Diagnosis · doi:10.1002/pd.1608 · Cited by 96 · see citing works
Self-citationFetal cells in maternal blood: current and future perspectives
Hahn, S., Sant, R., & Holzgreve, W. (1998) · Molecular Human Reproduction · doi:10.1093/molehr/4.6.515 · Cited by 92 · see citing works
Self-citationMicrochimeric fetal cells cluster at sites of tissue injury in lung decades after pregnancy
O’Donoghue, K., Sultan, H. A., Al-Allaf, F. A., Anderson, J. R., Wyatt‐Ashmead, J., & Fisk, N. M. (2008) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60600-1 · Cited by 88 · see citing works
Novel real-time quantitative PCR test for trisomy 21
Zimmermann, B., Holzgreve, W., Wenzel, F., & Hahn, S. (2002) · Clinical Chemistry · doi:10.1093/clinchem/48.2.362 · Cited by 86 · see citing works
Self-citationLi, Y., Holzgreve, W., Christiaens, G. C. M. L., Gille, J. J. P., & Hahn, S. (2004) · Prenatal Diagnosis · doi:10.1002/pd.1030 · Cited by 84 · see citing works
Self-citationOptimization of Transrenal DNA Analysis: Detection of Fetal DNA in Maternal Urine
Shekhtman, E. M., Anne, K., Melkonyan, H. S., Robbins, D. J., Warsof, S. L., & Umansky, S. R. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.113050 · Cited by 74 · see citing works
Chan, K. C. A., Leung, S. F., Yeung, S. W., Chan, A. T. �., & Lo, Y. M. D. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-1112 · Cited by 72 · see citing works
New Aspects of Laser Microdissection in Research and Routine
Burgemeister, R. (2005) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.4b6421.2005 · Cited by 70 · see citing works
Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
Zimmermann, B. G., Grill, S., Holzgreve, W., Zhong, X. Y., Jackson, L. G., & Hahn, S. (2008) · Prenatal Diagnosis · doi:10.1002/pd.2150 · Cited by 70 · see citing works
Self-citationHahn, S., & Holzgreve, W. (2002) · Clinical Obstetrics & Gynecology · doi:10.1097/00003081-200209000-00008 · Cited by 63 · see citing works
Self-citationCharacterization of first trimester fetal erythroblasts for non-invasive prenatal diagnosis
Choolani, M. A. (2003) · Molecular Human Reproduction · doi:10.1093/molehr/gag027 · Cited by 58 · see citing works
Self-citationTime Profile of Appearance and Disappearance of Circulating Placenta-Derived mRNA in Maternal Plasma
Chiu, R. W. K., Lui, W.-B., Cheung, M., Kumta, N., Farina, A., Banzola, I., Grotti, S., Rizzo, N., Haines, C. J., & Lo, Y. M. D. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2005.059691 · Cited by 56 · see citing works
Digital quantification of mutant DNA in cancer patients
Diehl, F., & Diaz, L. A. (2006) · Current Opinion in Oncology · doi:10.1097/cco.0b013e328011a8e7 · Cited by 53 · see citing works
Choolani, M. A., O‘Donnell, H., Campagnoli, C., Kumar, S., Roberts, I. A. G., Bennett, P. R., & Fisk, N. M. (2001) · Blood · doi:10.1182/blood.v98.3.554 · Cited by 51 · see citing works
Self-citationRecent progress in non-invasive prenatal diagnosis
Hahn, S., Zhong, X. Y., & Holzgreve, W. (2008) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2007.11.001 · Cited by 44 · see citing works
Self-citationLi, Y., Wenzel, F., Holzgreve, W., & Hahn, S. (2006) · Electrophoresis · doi:10.1002/elps.200600084 · Cited by 42 · see citing works
Self-citationKuhn, D. E., Roy, S., Radtke, J. R., Khanna, S., & Sen, C. K. (2006) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.01069.2006 · Cited by 40 · see citing works
Li, Y., Zhong, X. Y., Kang, A., Troeger, C., Holzgreve, W., & Hahn, S. (2003) · Journal of the Society for Gynecologic Investigation · doi:10.1016/s1071-5576(03)00155-2 · Cited by 37 · see citing works
Self-citationSeppo, A., Frisová, V., Ichetovkin, I. E., Kim, Y., Evans, M. I., Antsaklis, A., Nicolaides, K. H., Tafas, T. P., Tsipouras, P., & Kilpatrick, M. W. (2008) · Prenatal Diagnosis · doi:10.1002/pd.1987 · Cited by 36 · see citing works
Babochkina, T., Mergenthaler, S., Napoli, G. D., Hristoskova, S., Tercanli, S., Holzgreve, W., & Hahn, S. (2005) · PubMed · Cited by 35 · see citing works
Self-citationHung, E. C. W., Shing, T. K. F., Chim, S. S. C., Yeung, P. C., Chan, R. W. Y., Chik, K. W., Lee, V., Tsui, N. B. Y., Li, C. K., Wong, S. C. C., et al. (2008) · Clinical Chemistry · doi:10.1373/clinchem.2008.113530 · Cited by 30 · see citing works
Kolialexi, A., Vrettou, C., Traeger‐Synodinos, J., Burgemeister, R., Papantoniou, N., Kanavakis, E., Antsaklis, A. J., & Mavrou, A. (2007) · Prenatal Diagnosis · doi:10.1002/pd.1881 · Cited by 29 · see citing works
Isolating cells from non-sperm cellular mixtures using the PALM® microlaser micro dissection system
Lambie-Anoruo, B. L., van Oorschot, R. A. H., Mitchell, J., & Howells, D. W. (2007) · Forensic Science International · doi:10.1016/j.forsciint.2007.01.031 · Cited by 29 · see citing works
Hahn, S., Kiefer, V., Brombacher, V., Troeger, C., & Holzgreve, W. (1999) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/s0301-2115(98)00291-7 · Cited by 26 · see citing works
Self-citationEvaluation of a Soybean Lectin–based Method for the Enrichment of Erythroblasts
Babochkina, T., Mergenthaler, S., Lapaire, O., Kiefer, V., Yura, H., Koike, K., Holzgreve, W., & Hahn, S. (2005) · Journal of Histochemistry & Cytochemistry · doi:10.1369/jhc.4b6408.2005 · Cited by 24 · see citing works
Self-citationPrenatal diagnosis of lysosomal storage diseases using fetal blood
Groener, J., de Graaf, F. L., Poorthuis, B., & Kanhai, H. (1999) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199910)19:10 · Cited by 21 · see citing works
Self-citationMolecular Testing of Urine: Catching DNA on the Way Out
Lo, Y. M. D. (2000) · Clinical Chemistry · doi:10.1093/clinchem/46.8.1039 · Cited by 20 · see citing works
Cell‐Free DNA in Maternal Plasma
Li, Y., Holzgreve, W., Naro, E. D., Vitucci, A., & Hahn, S. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1368.010 · Cited by 16 · see citing works
Self-citationHennerbichler, S., Kroisel, P. M., Zierler, H., Pertl, B., Wintersteiger, R., Dohr, G., & Sedlmayr, P. (2003) · Prenatal Diagnosis · doi:10.1002/pd.668 · Cited by 16 · see citing works
Detection of Donor-specific DNA Polymorphisms in the Urine of Renal Transplant Recipients
Li, Y., Hahn, D., Zhong, X. Y., Thomson, P. D., Holzgreve, W., & Hahn, S. (2003) · Clinical Chemistry · doi:10.1373/49.4.655 · Cited by 14 · see citing works
Self-citationXu, G., Chan, M., Yang, C., Sukumar, P., Choolani, M. A., & Ying, J. Y. (2006) · Journal of Physics Conference Series · doi:10.1088/1742-6596/34/1/182 · Cited by 11 · see citing works
Self-citationDetection and relocation of rare events
Hennerbichler, S., Méhes, G., Schmied, R., Wintersteiger, R., Dohr, G., Ambros, P. F., & Sedlmayr, P. (2002) · Journal of Biochemical and Biophysical Methods · doi:10.1016/s0165-022x(02)00098-2 · Cited by 7 · see citing works
Hristoskova, S., Holzgreve, W., Hahn, S., & Rusterholz, C. (2007) · Journal of Cellular Physiology · doi:10.1002/jcp.21125 · Cited by 6 · see citing works
Self-citation
Flagged first, then by citations
1 of the 70 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Whale, A. S., Huggett, J. F., Cowen, S., Speirs, V., Shaw, J., Ellison, S., Foy, C. A., & Scott, D. J. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks203 · Cited by 453 · see citing works
Devonshire, A. S., Whale, A. S., Gutteridge, A., Jones, G. M., Cowen, S., Foy, C. A., & Huggett, J. F. (2014) · Analytical and Bioanalytical Chemistry · doi:10.1007/s00216-014-7835-3 · Cited by 299 · see citing works
Lench, N., Barrett, A. N., Fielding, S., McKay, F., Hill, M. K., Jenkins, L., White, H., & Chitty, L. S. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4124 · Cited by 150 · see citing works
Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake
Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2888 · Cited by 131 · see citing works
Circulating nucleic acids in cancer and pregnancy
Pinzani, P., Salvianti, F., Pazzagli, M., & Orlando, C. (2010) · Methods · doi:10.1016/j.ymeth.2010.02.004 · Cited by 57 · see citing works
Hahn, S., Lapaire, O., Tercanli, S., Kolla, V., & Hösli, I. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001852 · Cited by 49 · see citing works
Self-citationCell-Free Fetal Nucleic Acid Testing: A Review of the Technology and Its Applications
Sayres, L. C., & Cho, M. K. (2011) · Obstetrical & Gynecological Survey · doi:10.1097/ogx.0b013e31822dfbe2 · Cited by 30 · see citing works
Susman, M. R., Amor, D. J., Muggli, E., Jaques, A. M., & Halliday, J. L. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181d5d022 · Cited by 26 · see citing works
Traeger‐Synodinos, J., Vrettou, C., & Kanavakis, E. (2011) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.11.7 · Cited by 19 · see citing works
Hahn, S., Hösli, I., & Lapaire, O. (2012) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2012.703650 · Cited by 17 · see citing works
Self-citationPrenatal Diagnosis of the Hemoglobinopathies
Old, J. M. (1986) · Springer eBooks · doi:10.1007/978-1-4684-5155-9_19 · Cited by 14 · see citing works
Prenatal diagnosis of fetal aneuploidies: post-genomic developments
Hahn, S., Jackson, L. G., & Zimmermann, B. G. (2010) · Genome Medicine · doi:10.1186/gm171 · Cited by 12 · see citing works
Self-citationWhat Does Next-Generation Sequencing Mean for Prenatal Diagnosis?
Manegold‐Brauer, G., Hahn, S., & Lapaire, O. (2014) · Biomarkers in Medicine · doi:10.2217/bmm.14.18 · Cited by 12 · see citing works
Self-citationEmerging Applications of Single-Cell Diagnostics
Shirai, M., Taniguchi, T., & Kambara, H. (2012) · Topics in current chemistry · doi:10.1007/128_2012_327 · Cited by 11 · see citing works
Noninvasive Prenatal Diagnosis: 2010
Evans, M. I., & Kilpatrick, M. W. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.04.011 · Cited by 10 · see citing works
Cell-Free DNA in Maternal Plasma: Has the Size-Distribution Puzzle Been Solved?
Hahn, S., & Zimmermann, B. G. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2010.149609 · Cited by 7 · see citing works
Self-citationNew Perspectives in Prenatal Diagnosis of Sickle Cell Anemia
Yenilmez, E. D., & Tuli, A. (2016) · InTech eBooks · doi:10.5772/64646 · Cited by 5 · see citing works
Omertayeva, D., Muravlyova, L., Ponamareva, O. A., Molotov-Luchanskiy, V. B., Bakirova, R. Y., Klyuev, D., & Mugazov, M. (2020) · Open Access Macedonian Journal of Medical Sciences · doi:10.3889/oamjms.2020.4180 · Cited by 3 · see citing works
Quality assurance and standardization in view of non-invasive prenatal testing (NIPT)
Schenk, P. W. (2016) · Journal of Laboratory Medicine · doi:10.1515/labmed-2016-0066 · Cited by 3 · see citing works
CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis
Ganesh, I., Karthiga, I., Murugan, M., Rangarajalu, K., Ballambattu, V. B., & Ravikumar, S. (2025) · Medicina · doi:10.3390/medicina61040610 · Cited by 2 · see citing works
Molecular Diagnosis of Genetic Diseases
Grody, W. W. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4377-0974-2.00070-1 · Cited by 1 · see citing works
Clinical Implementation of Next-generation Sequencing in the Field of Prenatal Diagnostics
Manegold‐Brauer, G., & Lapaire, O. (2016) · InTech eBooks · doi:10.5772/61799 · Cited by 1 · see citing works
Single-Cell Diagnostics, Prognosis, and Therapy
Dhawan, D. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-817532-3.00001-3 · Cited by 1 · see citing works
Prenatal Diagnosis of the Hemoglobinopathies
Old, J. (2015) · doi:10.1002/9781118981559.ch18 · Cited by 1 · see citing works
Pränatale Diagnostik: Molekularbiologische Methoden
Lapaire, O., & Hahn, S. (2011) · Springer eBooks · doi:10.1007/978-3-642-12974-2_10
Self-citationGetting to know the fetal genome non-invasively: now a reality
Dhandha, M. M. (2012) · Protein & Cell · doi:10.1007/s13238-012-2810-2
Rainone, A., Troise, A. D., Berretta, M., Barletta, O., & Liguori, L. (2014)
Detection of MegaTAL-induced HIV pol Mutation By Droplet Digital PCR
Liang, S. Y. (2015) · ResearchWorks at the University of Washington (University of Washington)
Current awareness in prenatal diagnosis
(2010) · Prenatal Diagnosis · doi:10.1002/pd.2355
Pränatale Diagnostik: Molekularbiologische Methoden
Manegold‐Brauer, G., Lapaire, O., Hösli, I., & Hahn, S. (2015) · Springer eBooks · doi:10.1007/978-3-662-44369-9_7-1
Self-citationPränatale Diagnostik: Molekularbiologische Methoden
Manegold‐Brauer, G., Lapaire, O., Hösli, I., & Hahn, S. (2016) · Springer eBooks · doi:10.1007/978-3-662-45064-2_7
Self-citation
- Authors
- Hahn, S., Jackson, L. G., Kolla, V., Mahyuddin, A. P., & Choolani, M.
- Affiliations
- University of Basel (CH)
- Drexel University (US)
- University Hospital of Basel (CH)
- National University of Singapore (SG)
- Venue
- Expert Review of Molecular Diagnostics
- Publisher
- Informa UK Limited
- Published
- 2009-09
- Volume
- 9
- Issue
- 6
- Pages
- 613-621
- ISSN
- 1473-7159 (ISSN-L)
- 1744-8352
- OpenAlex
- W2163859875
- Cited by
- 32
- References
- 70
- Citations by year
- 2025: 1 · 2020: 1 · 2019: 1 · 2016: 4 · 2015: 3 · 2014: 3 · 2013: 1 · 2012: 4
- FWCI
- 5.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Expert Review of Molecular Diagnostics (publishedVersion)
- PubMed (publishedVersion)
- National University of Singapore (submittedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- noninvasive prenatal diagnosis, fetal aneuploidy, Down syndrome, cell-free fetal DNA, digital PCR, shotgun sequencing, monogenic disorders, thalassemia, cystic fibrosis, microfluidics, fetal karyotype
- MeSH terms
- Aneuploidy, DNA, Female, Humans, Pregnancy, Prenatal Diagnosis, Sequence Analysis, DNA, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
