Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories

Presence of fetal DNA in maternal plasma and serum

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Quantitative Analysis of Fetal DNA in Maternal Plasma and Serum: Implications for Noninvasive Prenatal Diagnosis

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

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

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

Lo, Y. M. D., Chan, K. C. A., Sun, H., Chen, E. Z., Jiang, P., Lun, F. M. F., Zheng, Y. W. L., Leung, T. Y., Lau, T. K., Cantor, C. R., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001720 · Cited by 1,102 · see citing works

Substantial biases in ultra-short read data sets from high-throughput DNA sequencing

Dohm, J. C., Lottaz, C., Borodina, T., & Himmelbauer, H. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn425 · Cited by 1,088 · see citing works

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

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

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., Bombard, A. T., Deciu, C., Grody, W. W., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182368a0e · Cited by 937 · see citing works

Summarizing and correcting the GC content bias in high-throughput sequencing

Benjamini, Y., & Speed, T. P. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks001 · Cited by 913 · see citing works

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

Chiu, R. W. K., Akolekar, R., Zheng, Y. W. L., Leung, T. Y., Sun, H., Chan, K. C. A., Lun, F. M. F., Go, A. T. J. I., Lau, E. T. K., To, W. W. K., et al. (2011) · BMJ · doi:10.1136/bmj.c7401 · Cited by 772 · see citing works

Personalized copy number and segmental duplication maps using next-generation sequencing

Alkan, C., Kidd, J. M., Marques-Bonet, T., Aksay, G., Antonacci, F., Hormozdiari, F., Kitzman, J. O., Baker, C., Malig, M., Mutlu, O., et al. (2009) · Nature Genetics · doi:10.1038/ng.437 · Cited by 748 · see citing works

Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma

Lo, Y. M. D., Hjelm, N. M., Fidler, C., Sargent, I. L., Murphy, M. F., Chamberlain, P. F., Poon, P. M. K., Redman, C. W. G., & Wainscoat, J. S. (1998) · New England Journal of Medicine · doi:10.1056/nejm199812103392402 · Cited by 718 · see citing works

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A., Sehnert, A. J., & Rava, R. P. (2012) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e31824fb482 · Cited by 642 · see citing works

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C. S., Das, A. F., Craig, J. A., Chudova, D. I., Devers, P. L., Jones, K. W., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1311037 · Cited by 640 · see citing works

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

Nicolaides, K. H., Syngelaki, A., Ashoor, G., Birdir, C., & Touzet, G. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.08.033 · Cited by 623 · see citing works

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

Norton, M. E., Brar, H., Weiss, J. M., Karimi, A., Laurent, L. C., Caughey, A. B., Rodríguez, M., Williams, J., Tomita‐Mitchell, A., Adair, C. D., et al. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.05.021 · Cited by 595 · see citing works

Size Distributions of Maternal and Fetal DNA in Maternal Plasma

Chan, K. C. A., Zhang, J., Hui, A. B., Wong, N., Lau, T. K., Leung, T. N., Lo, K. W., Huang, D. W. S., & Lo, Y. M. D. (2004) · Clinical Chemistry · doi:10.1373/clinchem.2003.024893 · Cited by 585 · see citing works

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Palomaki, G. E., Deciu, C., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Neveux, L. M., Ehrich, M., van den Boom, D., Bombard, A. T., Grody, W. W., et al. (2012) · Genetics in Medicine · doi:10.1038/gim.2011.73 · Cited by 518 · see citing works

Fast Computation and Applications of Genome Mappability

Derrien, T., Estellé, J., Marco‐Sola, S., Knowles, D. G., Raineri, E., Guigó, R., & Ribeca, P. (2012) · PLoS ONE · doi:10.1371/journal.pone.0030377 · Cited by 476 · see citing works

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

Ehrich, M., Deciu, C., Zwiefelhofer, T., Tynan, J. A., Cagasan, L., Tim, R. C., Lu, V., McCullough, R. M., McCarthy, E., Nygren, A. O. H., et al. (2011) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2010.12.060 · Cited by 471 · see citing works

DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

Rochon, M. L. (2014) · Cited by 470 · see citing works

Gestational age and maternal weight effects on fetal cell‐free DNA in maternal plasma

Wang, E., Batey, A., Struble, C. A., Musci, T. J., Song, K., & Oliphant, A. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4119 · Cited by 441 · 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

Noninvasive Whole-Genome Sequencing of a Human Fetus

Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., Gammill, H. S., Rubens, C. E., Santillan, D. A., Murray, J. C., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004323 · Cited by 410 · see citing works

Whole-genome sequencing and variant discovery in C. elegans

Hillier, L. W., Marth, G., Quinlan, A. R., Dooling, D. J., Fewell, G. A., Barnett, D. W., Fox, P. M., Glasscock, J. I., Hickenbotham, M. T., Huang, W., et al. (2008) · Nature Methods · doi:10.1038/nmeth.1179 · Cited by 405 · see citing works

Fetal fraction in maternal plasma cell‐free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics

Ashoor, G., Syngelaki, A., Poon, L. C., Rezende, J. C., & Nicolaides, K. H. (2012) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12331 · Cited by 397 · see citing works

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

Sparks, A. B., Struble, C. A., Wang, E. T., Song, K., & Oliphant, A. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.01.030 · Cited by 394 · see citing works

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies

Canick, J. A., Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., & Haddow, J. E. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4126 · Cited by 362 · see citing works

Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci

Zimmermann, B. G., Hill, M., Gemelos, G. M., Demko, Z., Banjevic, M., Banér, J., Ryan, A., Sigurjonsson, S., Chopra, N., Dodd, M., et al. (2012) · Prenatal Diagnosis · doi:10.1002/pd.3993 · Cited by 328 · see citing works

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma

New, M. I., Tong, Y. K., Yuen, T., Jiang, P., Pina, C., Chan, K. C. A., Khattab, A., Liao, G. J. W., Yau, M., Kim, S.-M., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1118 · Cited by 319 · see citing works

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Wang, Y., Chen, Y., Tian, F., Zhang, J., Song, Z., Wu, Y., Han, X., Hu, W., Ma, D., Cram, D. S., et al. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.215145 · Cited by 315 · see citing works

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

Sehnert, A. J., Rhees, B. K., Comstock, D., de Feo, E., Heilek, G., Burke, J., & Rava, R. P. (2011) · Clinical Chemistry · doi:10.1373/clinchem.2011.165910 · Cited by 288 · see citing works

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

Chen, E. Z., Chiu, R. W. K., Sun, H., Akolekar, R., Chan, K. C. A., Leung, T. Y., Jiang, P., Zheng, Y. W. L., Lun, F. M. F., Chan, L. Y. S., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021791 · Cited by 287 · see citing works

Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing

Yu, S. C. Y., Chan, K. C. A., Zheng, Y. W. L., Jiang, P., Liao, G. J. W., Sun, H., Akolekar, R., Leung, T. Y., Go, A. T. J. I., van Vugt, J. M. G., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1406103111 · Cited by 285 · see citing works

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Pergament, E., Cuckle, H., Zimmermann, B. G., Banjevic, M., Sigurjonsson, S., Ryan, A., Hall, M. P., Dodd, M., Lacroute, P., Stosic, M., et al. (2014) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000000363 · Cited by 284 · see citing works

Clinical experience and follow-up with large scale single-nucleotide polymorphism–based noninvasive prenatal aneuploidy testing

Dar, P., Curnow, K. J., Gross, S. J., Hall, M. P., Stosic, M., Demko, Z., Zimmermann, B. G., Hill, M., Sigurjonsson, S., Ryan, A., et al. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.08.006 · Cited by 276 · see citing works

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

Srinivasan, A., Bianchi, D. W., Huang, H., Sehnert, A. J., & Rava, R. P. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.006 · Cited by 276 · see citing works

ACMG statement on noninvasive prenatal screening for fetal aneuploidy

Gregg, A. R., Gross, S. J., Best, R. G., Monaghan, K. G., Bajaj, K., Skotko, B. G., Thompson, B. H., & Watson, M. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.29 · Cited by 272 · see citing works

Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing

Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2010.144188 · Cited by 266 · see citing works

Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy

Sparks, A. B., Wang, E. T., Struble, C. A., Barrett, W., Stokowski, R. P., McBride, C., Zahn, J. M., Lee, K. C., Shen, N., Doshi, J., et al. (2012) · Prenatal Diagnosis · doi:10.1002/pd.2922 · Cited by 265 · see citing works

Maternal Plasma Cell-Free Fetal and Maternal DNA at 11-13 Weeks' Gestation: Relation to Fetal and Maternal Characteristics and Pregnancy Outcomes

Poon, L. C., Musci, T. J., Song, K., Syngelaki, A., & Nicolaides, K. H. (2013) · Fetal Diagnosis and Therapy · doi:10.1159/000346806 · Cited by 246 · see citing works

Validation of targeted sequencing of single‐nucleotide polymorphisms for non‐invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y

Nicolaides, K. H., Syngelaki, A., Gil, M., Atanasova, V., & Markova, D. M. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4103 · Cited by 237 · see citing works

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

Osborne, C. M., Hardisty, E., Devers, P. L., Kaiser‐Rogers, K. A., Hayden, M. A., Goodnight, W., & Vora, N. L. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4100 · Cited by 232 · see citing works

Detection of fetal RHD-specific sequences in maternal plasma

Faas, B. H. W., Beuling, E. A., Christiaens, G. C. M. L., Borne, A. K. V. D., & van der School, C. (1998) · The Lancet · doi:10.1016/s0140-6736(05)60534-x · Cited by 229 · see citing works

Clinical application of massively parallel sequencing‐based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11 105 pregnancies with mixed risk factors

Dan, S., Wang, W., Ren, J., Li, Y., Hu, H., Xu, Z., Lau, T. K., Xie, J., Zhao, W., Huang, H., et al. (2012) · Prenatal Diagnosis · doi:10.1002/pd.4002 · Cited by 229 · see citing works

Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

BENN, P. A., BORRELL, A., Chiu, R. W. K., Cuckle, H., Dugoff, L., Faas, B. H. W., Gross, S. J., Johnson, J.-A. M., Maymon, R., Norton, M. E., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4139 · Cited by 216 · see citing works

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma

Mazloom, A. R., Džakula, Ž., Oeth, P. A., Wang, H., Jensen, T. J., Tynan, J. A., McCullough, R. M., Saldivar, J., Ehrich, M., van den Boom, D., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4127 · Cited by 197 · see citing works

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

Devers, P. L., Cronister, A., Ormond, K. E., Facio, F. M., Brasington, C. K., & Flodman, P. L. (2013) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9564-0 · Cited by 195 · see citing works

Differential DNA Methylation between Fetus and Mother as a Strategy for Detecting Fetal DNA in Maternal Plasma

Poon, L. L. M., Leung, T. N., Lau, T. K., Chow, K. C., & Lo, Y. D. (2002) · Clinical Chemistry · doi:10.1093/clinchem/48.1.35 · Cited by 195 · see citing works

Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population

Song, Y., Liu, C., Qi, H., Zhang, Y., Bian, X.-M., & Liu, J. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4160 · Cited by 184 · see citing works

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA

Porreco, R. P., Garite, T. J., Maurel, K. A., Marusiak, B., Ehrich, M., van den Boom, D., Deciu, C., & Bombard, A. T. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.03.042 · Cited by 181 · see citing works

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations

Canick, J. A., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Ehrich, M., van den Boom, D., Bombard, A. T., Deciu, C., & Palomaki, G. E. (2012) · Prenatal Diagnosis · doi:10.1002/pd.3892 · Cited by 177 · see citing works

Fetal Sex Determination From Maternal Plasma in Pregnancies at Risk for Congenital Adrenal Hyperplasia

Rijnders, R. J. P., van der Schoot, C. E., Bossers, B., de Vroede, M. A. M. J., & Christiaens, G. C. M. L. (2001) · Obstetrics and Gynecology · doi:10.1016/s0029-7844(01)01480-6 · Cited by 175 · see citing works

Circulating Fetal Cell-Free DNA Fractions Differ in Autosomal Aneuploidies and Monosomy X

Rava, R. P., Srinivasan, A., Sehnert, A. J., & Bianchi, D. W. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.207951 · Cited by 168 · see citing works

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme

Straver, R., Sistermans, E. A., Holstege, H. H., Visser, A., Oudejans, C. B. M., & Reinders, M. J. T. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt992 · Cited by 166 · see citing works

Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies

Jiang, F., Ren, J., Chen, F., Zhou, Y., Xie, J., Dan, S., Su, Y., Xie, J., Yin, B.-M., Su, W., et al. (2012) · BMC Medical Genomics · doi:10.1186/1755-8794-5-57 · Cited by 164 · see citing works

Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?

Bianchi, D. W., & Wilkins-Haug, L. E. (2013) · Clinical Chemistry · doi:10.1373/clinchem.2013.202663 · Cited by 161 · see citing works

Implementation of maternal blood cell‐free DNA testing in early screening for aneuploidies

Gil, M. M., Quezada, M. S., Bregant, B., Ferraro, M., & Nicolaides, K. H. (2013) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12504 · Cited by 154 · see citing works

Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience

Scheffer, P., van der Schoot, C. E., Christiaens, G. C. M. L., & de Haas, M. (2011) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2011.03028.x · Cited by 147 · see citing works

Non‐invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

Liang, D., Lv, W., Wang, H., Xu, L., Liu, J., Li, H., Hu, L., Peng, Y., & Wu, L. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4033 · Cited by 144 · see citing works

SNP‐based non‐invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

Samango‐Sprouse, C. A., Banjevic, M., Ryan, A., Sigurjonsson, S., Zimmermann, B. G., Hill, M., Hall, M. P., Westemeyer, M., Saucier, J. B., Demko, Z., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4159 · Cited by 144 · see citing works

Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors

Ashoor, G., Poon, L. C., Syngelaki, A., Mosimann, B., & Nicolaides, K. H. (2012) · Fetal Diagnosis and Therapy · doi:10.1159/000337373 · Cited by 142 · see citing works

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination

Nygren, A. O. H., Dean, J., Jensen, T. J., Kruse, S., Kwong, W., van den Boom, D., & Ehrich, M. (2010) · Clinical Chemistry · doi:10.1373/clinchem.2010.146290 · Cited by 142 · see citing works

Sensitivity of Noninvasive Prenatal Detection of Fetal Aneuploidy from Maternal Plasma Using Shotgun Sequencing Is Limited Only by Counting Statistics

Fan, H. C., & Quake, S. R. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010439 · Cited by 141 · see citing works

Increased Death of Adipose Cells, a Path to Release Cell‐Free DNA Into Systemic Circulation of Obese Women

Haghiac, M., Vora, N. L., Basu, S., Johnson, K. L., Presley, L. H., Bianchi, D. W., & Mouzon, S. H. (2012) · Obesity · doi:10.1038/oby.2012.138 · Cited by 139 · see citing works

Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal Circulation

Dhallan, R. (2004) · JAMA · doi:10.1001/jama.291.9.1114 · Cited by 135 · see citing works

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

Faas, B. H. W., de Ligt, J., Janssen, I. M., Eggink, A. J., Wijnberger, L. D. E., van Vugt, J. M. G., Vissers, L. E. L. M., & van Kessel, A. G. (2012) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2012.670632 · Cited by 135 · see citing works

Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing

Wong, D. T., Moturi, S., Angkachatchai, V., Mueller, R. D., DeSantis, G., van den Boom, D., & Ehrich, M. (2013) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2013.04.023 · Cited by 133 · see citing works

Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

Peters, D. G., Chu, T., Yatsenko, S. A., Hendrix, N. W., Hogge, W. A., Surti, U., Bunce, K. D., Dunkel, M. K., Shaw, P. H., & Rajkovic, A. (2011) · New England Journal of Medicine · doi:10.1056/nejmc1106975 · Cited by 133 · see citing works

Detection of fetal Rhesus D and sex using fetal DNA from maternal plasma by multiplex polymerase chain reaction

Zhong, X. Y., Holzgreve, W., & Hahn, S. (2000) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/j.1471-0528.2000.tb13338.x · Cited by 132 · see citing works

Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21

Chiu, R. W. K., Sun, H., Akolekar, R., Clouser, C. R., Lee, C. C., McKernan, K. J., Zhou, D., Nicolaides, K. H., & Lo, Y. M. D. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2009.136507 · Cited by 131 · see citing works

Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma

Jensen, T. J., Džakula, Ž., Deciu, C., van den Boom, D., & Ehrich, M. (2012) · Clinical Chemistry · doi:10.1373/clinchem.2011.180794 · Cited by 124 · see citing works

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

Lau, T. K., Chen, F., Pan, X., Pooh, R. K., Jiang, F., Li, Y., Jiang, H., Li, X., Chen, S., & Zhang, X. (2012) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.3109/14767058.2011.635730 · Cited by 122 · see citing works

A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

Chen, S., Lau, T. K., Zhang, C., Xu, C., Xu, Z., Hu, P., Xu, J., Huang, H., Pan, L., Jiang, F., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4110 · Cited by 122 · see citing works

Secondary findings from non‐invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service

Lau, T. K., Jiang, F. M., Stevenson, R. J., Lo, T. K., Chan, L. W., Chan, M. K., Lo, P. S. S., Wang, W., Zhang, H., Chen, F., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4076 · Cited by 119 · see citing works

Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

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Sites of Differential DNA Methylation between Placenta and Peripheral Blood

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