Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

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

Chromosomal microarray versus karyotyping for prenatal diagnosis

Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412 · 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

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

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: Updated meta-analysis

Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.17484 · Cited by 683 · see citing works

Epigenetics, fragmentomics, and topology of cell-free DNA in liquid biopsies

Lo, Y. M. D., Han, D. S. C., Jiang, P., & Chiu, R. W. K. (2021) · Science · doi:10.1126/science.aaw3616 · Cited by 659 · 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

Screening for Fetal Chromosomal Abnormalities

Rose, N. C. M., Kaimal, A. J. M., Dugoff, L. M., Norton, M. E. M., & American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics Committee on Genetics Society for Maternal-Fetal Medicine (2020) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000004084 · Cited by 598 · see citing works

DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

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

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

Bianchi, D. W., Chudova, D. I., Sehnert, A. J., Bhatt, S., Murray, K. A., Prosen, T. L., Garber, J. E., Wilkins-Haug, L. E., Vora, N. L., Warsof, S., et al. (2015) · JAMA · doi:10.1001/jama.2015.7120 · Cited by 463 · 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

Screening for Fetal Chromosomal Abnormalities

(2020) · Obstetrics and Gynecology · doi:10.1097/aog.0000000000004107 · Cited by 386 · see citing works

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in The Netherlands

van der Meij, K. R. M., Sistermans, E. A., Macville, M. V. E., Stevens, S. J. C., Bax, C. J., Bekker, M. N., Bilardo, C. M., Boon, E. M. J., Boter, M., Diderich, K. E. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.10.005 · Cited by 372 · 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

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG), Dondorp, W., de Wert, G. M. W. R., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.57 · Cited by 347 · see citing works

Integrative single-cell and cell-free plasma RNA transcriptomics elucidates placental cellular dynamics

Tsang, J. C. H., Vong, J. S. L., Ji, L., Poon, L. C., Jiang, P., Lui, K. O., Ni, Y., To, K. F., Cheng, Y. K. Y., Chiu, R. W. K., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1710470114 · Cited by 331 · 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

Single cell transcriptional signatures of the human placenta in term and preterm parturition

Piqué-Regi, R., Romero, R. J., Tarca, A. L., Sendler, E. D., Xu, Y., Garcia‐Flores, V., Leng, Y., Luca, F., Hassan, S. S., & Gomez‐Lopez, N. (2019) · eLife · doi:10.7554/elife.52004 · Cited by 318 · see citing works

The accuracy of cell‐free fetal DNA ‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis

Mackie, F. L., Hemming, K., Allen, S. K., Morris, R. K., & Kilby, M. D. (2016) · BJOG An International Journal of Obstetrics & Gynaecology · doi:10.1111/1471-0528.14050 · Cited by 294 · see citing works

Position statement from the Chromosome Abnormality 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., Huang, T., Johnson, J.-A. M., Maymon, R., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4608 · Cited by 293 · 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

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

Liu, S., Huang, S., Chen, F., Zhao, L., Yuan, Y., Francis, S. S., Fang, L., Li, Z., Lin, L., Liu, R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.08.016 · Cited by 279 · 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

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

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

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

Gadsbøll, K., Petersen, O. B., Gâtinois, V., Strange, H., Jacobsson, B., Wapner, R. J., Vermeesch, J. R., The NIPT‐map Study Group, & Vogel, I. (2020) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1111/aogs.13841 · Cited by 228 · see citing works

Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis

Malvestiti, F., Agrati, C., Grimi, B., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4656 · Cited by 214 · see citing works

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Dungan, J. S., Klugman, S. D., Darilek, S. A., Malinowski, J. R., Akkari, Y. M. N., Monaghan, K. G., Erwin, A., & Best, R. G. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.004 · Cited by 212 · see citing works

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

Wellesley, D. G., Dolk, H. M., Boyd, P. A., Greenlees, R., Haeusler, M. C. H., Nelen, V., Garne, E., Khoshnood, B., Doray, B., Rißmann, A., et al. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.246 · Cited by 206 · see citing works

Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta‐analysis

Grande, M., Jansen, F. A. R., Blumenfeld, Y. J., et al. (2015) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14880 · Cited by 203 · see citing works

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

Held, K. R., Kerber, S., Kaminsky, E. B., Singh, S., Goetz, P., Seemanová, E., & GOEDDE, H. W. (1992) · Human Genetics · doi:10.1007/bf00197261 · Cited by 181 · see citing works

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Pertile, M. D., Halks‐Miller, M., Flowers, N. J., Bárbácioru, C., Kinnings, S., Vavrek, D. A., Seltzer, W. K., & Bianchi, D. W. (2017) · Science Translational Medicine · doi:10.1126/scitranslmed.aan1240 · Cited by 163 · see citing works

The Emergence and Global Spread of Noninvasive Prenatal Testing

Ravitsky, V., Roy, M., Haidar, H., Henneman, L., Marshall, J., Newson, A. J., Ngan, O. M. Y., & Nov‐Klaiman, T. (2021) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083118-015053 · Cited by 150 · see citing works

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

Chitty, L. S., Wright, D., Hill, M., Verhoef, T. I., Daley, R., Lewis, C., Mason, S., McKay, F., Jenkins, L., Howarth, A., et al. (2016) · BMJ · doi:10.1136/bmj.i3426 · Cited by 149 · see citing works

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

Hui, L., & Bianchi, D. W. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5620 · Cited by 146 · see citing works

RETIRED: No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes

Audibert, F., Bie, I. D., Johnson, J.-A., Okun, N. B., Wilson, R. D., Armour, C. M., Chitayat, D. A., & Kim, R. H. (2017) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2017.01.032 · Cited by 143 · see citing works

Noninvasive Prenatal Testing Goes Global

Chandrasekharan, S., Minear, M. A., Hung, A., & Allyse, M. A. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3008704 · Cited by 140 · see citing works

The epidemiology of sex chromosome abnormalities

Berglund, A., Stochholm, K., & Gravholt, C. H. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31805 · Cited by 139 · 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

Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing

Kinnings, S., Geis, J. A., Almasri, E., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4625 · Cited by 133 · see citing works

Clinical outcome of subchromosomal events detected by whole‐genome noninvasive prenatal testing

Helgeson, J. M., Wardrop, J., Boomer, T., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4640 · Cited by 130 · see citing works

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Bogaert, K. V. D., Lannoo, L., Brison, N., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01101-4 · Cited by 130 · see citing works

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau, M., Lindsay, C., Blais, J., Nshimyumukiza, L., Takwoingi, Y., Langlois, S. F., Légaré, F., Giguère, Y., Turgeon, A. F., Witteman, W., et al. (2017) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd011767.pub2 · Cited by 126 · see citing works

Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique

Guibert, J. (2003) · Human Reproduction · doi:10.1093/humrep/deg320 · Cited by 123 · see citing works

Fetal Aneuploidy Detection by Cell-Free DNA Sequencing for Multiple Pregnancies and Quality Issues with Vanishing Twins

Grömminger, S., Yağmur, E., Erkan, S., et al. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3030679 · Cited by 115 · see citing works

The type of feto‐placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

Grati, F. R., Bajaj, K., Malvestiti, F., et al. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4659 · Cited by 112 · see citing works

Uniparental disomy: Origin, frequency, and clinical significance

BENN, P. A. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5837 · Cited by 110 · see citing works

ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice

Salomon, L. J., Alfirević, Ž., Audibert, F., Kagan, K. O., Paladini, D., Yeo, G., & Raine‐Fenning, N. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.13393 · Cited by 107 · see citing works

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Schuurman, L. V. P., Sistermans, E. A., Opstal, D. V., Henneman, L., Bekker, M. N., Bax, C. J., Pieters, M. J., Bouman, K., de Munnik, S., den Hollander, N. S., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.04.018 · Cited by 100 · see citing works

Circulating cell free DNA testing: are some test failures informative?

Palomaki, G. E., Kloza, E. M., Lambert-Messerlian, G. M., van den Boom, D., Ehrich, M., Deciu, C., Bombard, A. T., & Haddow, J. E. (2014) · Prenatal Diagnosis · doi:10.1002/pd.4541 · Cited by 97 · see citing works

Microarray-Based Cell-Free DNA Analysis Improves Noninvasive Prenatal Testing

Juneau, K., Bogard, P. E., Huang, S. A., et al. (2014) · Fetal Diagnosis and Therapy · doi:10.1159/000367626 · Cited by 97 · see citing works

The role of ultrasound in women who undergo cell-free DNA screening

Norton, M. E., Biggio, J., Kuller, J. A., & Blackwell, S. C. (2017) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2017.01.005 · Cited by 91 · see citing works

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Bardi, F., Bosschieter, P. F. N., Verheij, J., Go, A. T. J. I., Haak, M. C., Bekker, M. N., Sikkel, E., Coumans, A. B. C., Pajkrt, E., & Bilardo, C. M. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5590 · Cited by 89 · see citing works

Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

Lewis, C., Hill, M., & Chitty, L. S. (2016) · PLOS ONE · doi:10.1371/journal.pone.0153147 · Cited by 85 · see citing works

Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing

Brison, N., Neofytou, M. C., Dehaspe, L., et al. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5223 · Cited by 80 · see citing works

Recommended pre‐test counseling points for noninvasive prenatal testing using cell‐free DNA: a 2015 perspective

Sachs, A., Blanchard, L., Buchanan, A., Norwitz, E. R., & Bianchi, D. W. (2015) · Prenatal Diagnosis · doi:10.1002/pd.4666 · Cited by 79 · see citing works

Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome

Dar, P., Jacobsson, B., Clifton, R. G., Egbert, M., Malone, F. D., Wapner, R. J., Roman, A. S., Khalil, A. A., Faro, R., Madankumar, R., et al. (2022) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2022.01.002 · Cited by 73 · see citing works

Sex selection and non‐invasive prenatal testing: A review of current practices, evidence, and ethical issues

Bowman‐Smart, H., Savulescu, J., Gyngell, C., Mand, C., & Delatycki, M. B. (2019) · Prenatal Diagnosis · doi:10.1002/pd.5555 · Cited by 72 · see citing works

Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine

Hui, L., & Bianchi, D. W. (2016) · Annual Review of Medicine · doi:10.1146/annurev-med-072115-033220 · Cited by 69 · see citing works

International Society for Prenatal Diagnosis Position Statement: cell free (cf) DNA screening for Down syndrome in multiple pregnancies

Palomaki, G. E., Chiu, R. W. K., Pertile, M. D., et al. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5832 · Cited by 61 · see citing works

Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals

Kater‐Kuipers, A., Bunnik, E. M., de Beaufort, I. D., & Galjaard, R. J. H. (2018) · BMC Pregnancy and Childbirth · doi:10.1186/s12884-018-2050-4 · Cited by 59 · see citing works

Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered

Page‐Christiaens, L., Chitty, L. S., & Langlois, S. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5943 · Cited by 58 · see citing works

Access to Genetic Counselors in the Southern United States

Villegas, C., & Haga, S. B. (2019) · Journal of Personalized Medicine · doi:10.3390/jpm9030033 · Cited by 52 · see citing works

Rethinking counselling in prenatal screening: An ethical analysis of informed consent in the context of non‐invasive prenatal testing (NIPT)

Kater‐Kuipers, A., de Beaufort, I. D., Galjaard, R. H., et al. (2020) · Bioethics · doi:10.1111/bioe.12760 · Cited by 48 · see citing works

“I think we’ve got too many tests!”: Prenatal providers’ reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening

Gammon, B. L., Kraft, S. A., Michie, M., & Allyse, M. A. (2016) · Ethics Medicine and Public Health · doi:10.1016/j.jemep.2016.07.006 · Cited by 44 · see citing works

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

Johnston, M., Warton, C., Pertile, M. D., Taylor-Sands, M. M., Delatycki, M. B., Hui, L., Savulescu, J., & Mills, C. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6217 · Cited by 40 · see citing works

Association between low fetal fraction in cell‐free DNA testing and adverse pregnancy outcome: A systematic review

Scheffer, P. G., Wirjosoekarto, S. A. M., Becking, E. C., Weiss, M. M., Bax, C. J., Oepkes, D., Sistermans, E. A., Henneman, L., & Bekker, M. N. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6028 · Cited by 40 · see citing works

Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio?

Mardy, A. H., & Norton, M. E. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6021 · Cited by 39 · see citing works

Prenatal Screening for 22q11.2 Deletion Using a Targeted Microarray-Based Cell-Free DNA Test

Schmid, M., Wang, E., Bogard, P. E., Bevilacqua, E., Hacker, C., Wang, S., Doshi, J., White, K., Kaplan, J., Sparks, A. B., et al. (2017) · Fetal Diagnosis and Therapy · doi:10.1159/000484317 · Cited by 38 · see citing works

Cell-Free DNA Fragmentomics: The New “Omics” on the Block

Chiu, R. W. K., Heitzer, E., Lo, Y. M. D., et al. (2020) · Clinical Chemistry · doi:10.1093/clinchem/hvaa258 · Cited by 38 · see citing works

Cancer Diagnoses Following Abnormal Noninvasive Prenatal Testing: A Case Series, Literature Review, and Proposed Management Model

Dow, E., Freimund, A. E., Smith, K. M., Hicks, R. J., Jurcevic, P., Shackleton, M. J., James, P. A., FELLOWES, A. P., Delatycki, M. B., Fawcett, S., et al. (2021) · JCO Precision Oncology · doi:10.1200/po.20.00429 · Cited by 37 · see citing works

Utility of ultrasound examination at 10–14 weeks prior to cell‐free DNA screening for fetal aneuploidy

Vora, N. L., Robinson, S., Hardisty, E., & Stamilio, D. M. (2016) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.15995 · Cited by 36 · see citing works

Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis.

Vanstone, M. G., Cernat, A., Majid, U., Trivedi, F., & Freitas, C. D. (2019) · Europe PMC (PubMed Central) · Cited by 35 · see citing works

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis

Zhang, W., Mohammadi, T., Sou, J., & Anis, A. H. (2019) · PLoS ONE · doi:10.1371/journal.pone.0225281 · Cited by 35 · see citing works

Regulation of the DNA damage response on male meiotic sex chromosomes

Lu, L., Xiong, Y., Kuang, H., Korakavi, G., & Yu, X. (2013) · Nature Communications · doi:10.1038/ncomms3105 · Cited by 34 · see citing works

An evidence‐based practice guideline of the National Society of Genetic Counselors for telehealth genetic counseling

Green, S., Hartzfeld, D., Terry, A. B., Fissell, K., Friedman, S. J., Paolino, N., Principe, K., Sandbach, J. F., Trzupek, K. M., Winheld, S., et al. (2022) · Journal of Genetic Counseling · doi:10.1002/jgc4.1627 · Cited by 34 · see citing works

Cell-Free DNA Analysis for Noninvasive Examination of Trisomy

Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., Tomlinson, M. W., Pereira, L. M., Spitz, J. L., Hollemon, D., et al. (2015) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000470657.58577.f2 · Cited by 33 · see citing works

Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study

Hui, L., Pynaker, C., Bonacquisto, L., et al. (2021) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2021.03.050 · Cited by 33 · see citing works

Cell-Free DNA–Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis

Nshimyumukiza, L., Beaumont, J.-A., Duplantie, J., Langlois, S. F., Little, J., Audibert, F., McCabe, C. J., Gekas, J., Giguère, Y., Gagné, C., et al. (2017) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/j.jogc.2017.05.015 · Cited by 31 · see citing works

Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?

Lannoo, L., Lenaerts, L., Bogaert, K. V. D., et al. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6031 · Cited by 31 · see citing works

The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis

Acreman, M. L., Bussolaro, S., Raymond, Y. C., Fantasia, I., Rolnik, D. L., & Costa, F. D. S. (2022) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2022.08.034 · Cited by 31 · see citing works

State‐wide utilization and performance of traditional and cell‐free DNA‐based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

Lindquist, A., Hui, L., Poulton, A., Kluckow, E., Hutchinson, B., Pertile, M. D., Bonacquisto, L., Gugasyan, L., Kulkarni, A., Harraway, J. R., et al. (2019) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.21899 · Cited by 30 · see citing works

A cross‐country comparison of pregnant women's decision‐making and perspectives when opting for non‐invasive prenatal testing in the Netherlands and Belgium

Lannoo, L., van der Meij, K. R. M., Bekker, M. N., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6329 · Cited by 30 · see citing works

Influence of fibroids on cell‐free DNA screening accuracy

Scott, F., Menezes, M. A., Smet, M.-E., et al. (2021) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.23763 · Cited by 29 · see citing works

Use of a novel computerized decision aid for aneuploidy screening: a randomized controlled trial

Carlson, L. M., Harris, S. C., Hardisty, E., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0283-2 · Cited by 26 · see citing works

The cell‐free DNA virome of 108,349 Dutch pregnant women

Linthorst, J., Baksi, M. M. M., Welkers, M. R. A., & Sistermans, E. A. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6143 · Cited by 26 · see citing works

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Flowers, N. J., Burgess, T., Giouzeppos, O., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0930-2 · Cited by 25 · see citing works

Cell‐free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review

Familiari, A., Boito, S., Rembouskos, G., Ischia, B., Accurti, V., Fabietti, I., Volpe, P., & Persico, N. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5928 · Cited by 25 · see citing works

Increased nuchal translucency after low‐risk noninvasive prenatal testing: What should we tell prospective parents?

Kelley, J., McGillivray, G., Meagher, S. E., & Hui, L. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6024 · Cited by 25 · see citing works

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

Steffensen, E. H., Skakkebaek, A. H., Gadsbøll, K., Petersen, O. B., Westover, T., Strange, H., The NIPT‐SCA‐map Study Group, & Vogel, I. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6322 · Cited by 25 · see citing works

Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

Deans, Z. C., Allen, S. K., Jenkins, L., Khawaja, F., Hastings, R. J., Mann, K., Patton, S. J., Sistermans, E. A., & Chitty, L. S. (2017) · Prenatal Diagnosis · doi:10.1002/pd.5068 · Cited by 23 · see citing works

Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally

Becking, E. C., Linthorst, J., Patton, S. J., et al. (2022) · Clinical Chemistry · doi:10.1093/clinchem/hvac207 · Cited by 23 · see citing works

NIPT and the concerns regarding ‘routinisation’

Horn, R. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01053-6 · Cited by 22 · see citing works

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

Rose, N. C., Barrie, E. S., Malinowski, J. R., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.07.002 · Cited by 22 · see citing works

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape

Bowman‐Smart, H., Wiesemann, C., & Horn, R. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01256-x · Cited by 20 · see citing works

Non-Invasive Prenatal Testing (NIPT) Implementation in Japan: A Comparison with the United Kingdom, Germany, Italy, Sweden, and Taiwan

Takahashi, M., Linh, L. K., Sayed, A. M., et al. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph192416404 · Cited by 19 · see citing works

Outcomes following the detection of fetal edema in early pregnancy prior to non‐invasive prenatal testing

Ramkrishna, J., Menezes, M. A., Humnabadkar, K., et al. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5847 · Cited by 18 · see citing works

When ultrasound anomalies are present: An estimation of the frequency of chromosome abnormalities not detected by cell‐free DNA aneuploidy screens

Reimers, R., Mason‐Suares, H., Little, S. E., et al. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5233 · Cited by 17 · see citing works

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study

Rousseau, F., Langlois, S., Johnson, J.-A. M., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0443-0 · Cited by 17 · see citing works

Timing of diagnosis of fetal structural abnormalities after the introduction of universal cell‐free DNA in the absence of first‐trimester anatomical screening

Bardi, F., Beekhuis, A. M., Bakker, M. K., Elvan‐Taşpınar, A., & Bilardo, C. M. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6224 · Cited by 16 · see citing works

The implementation of non-invasive prenatal testing (NIPT) in the Netherlands

Bilardo, C. M. (2021) · Journal of Perinatal Medicine · doi:10.1515/jpm-2021-0290 · Cited by 14 · see citing works

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)

Grati, F. R., Bestetti, I., de Siero, D., et al. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6271 · Cited by 13 · see citing works

Cell-free fetal DNA screening for detection of microdeletion syndromes: a cost-effectiveness analysis

Avram, C. M., Shaffer, B. L., Sparks, T. N., et al. (2019) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2019.1647161 · Cited by 12 · see citing works

Increased nuchal translucency before 11 weeks of gestation: Reason for referral?

Lugthart, M. A., Bet, B., Elsman, F., van de Kamp, K., de Bakker, B. S., Linskens, I. H., van Maarle, M. C., van Leeuwen, E., & Pajkrt, E. (2021) · Prenatal Diagnosis · doi:10.1002/pd.6054 · Cited by 11 · see citing works

ISPD 2022 debate—When offering a first trimester ultrasound at 11 + 0 to 13 + 6 weeks, a detailed review of fetal anatomy should be included

Hui, L., Johnson, J.-A. M., & Norton, M. E. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6251 · Cited by 11 · see citing works

Increasing maternal age is not a significant cause of false‐positive results for monosomy X in non‐invasive prenatal testing

Sandow, R., Scott, F., Schlüter, P. J., et al. (2020) · Prenatal Diagnosis · doi:10.1002/pd.5790 · Cited by 10 · see citing works

Consequences of imprecision in fetal fraction estimation on performance of cell‐free DNA screening for Down syndrome

Persson, F., & Cuckle, H. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6126 · Cited by 10 · see citing works

Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

Lewit-Mendes, M., Robson, H., Kelley, J., Elliott, J., Brown, E., Menezes, M. A., & Archibald, A. D. (2022) · Journal of Genetic Counseling · doi:10.1002/jgc4.1635 · Cited by 10 · see citing works

Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies

Pynaker, C., Norris, F., Hui, L., et al. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6305 · Cited by 10 · see citing works

Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial

Lim, K., Lewis, C., Wong, H. C., Chong, G. S. L., Gosavi, A., & Choolani, M. A. (2022) · Prenatal Diagnosis · doi:10.1002/pd.6279 · Cited by 7 · see citing works

Noninvasive prenatal testing: Advancing through a virtuous circle of science, technology and clinical applications

Lo, Y. M. D. (2021) · Prenatal Diagnosis · doi:10.1002/pd.5978 · Cited by 6 · see citing works

Cell‐free DNA testing for prenatal aneuploidy assessment: analysis of professional society statements

Jones, R. A., White, K., Batey, A., et al. (2020) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.22120 · Cited by 5 · see citing works

Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio‐economic population

Ellis, K. B. (2022) · Australian and New Zealand Journal of Obstetrics and Gynaecology · doi:10.1111/ajo.13522 · Cited by 5 · see citing works

Screening for Fetal Chromosome Abnormalities

McCathern, B. C., Longman, R. E., & Abramowicz, J. S. (2023) · Springer eBooks · doi:10.1007/978-3-031-24133-8_9 · Cited by 4 · see citing works

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

Lo, K., Karampetsou, E., Boustred, C. R., et al. (2016) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000481796.11218.bd · Cited by 1 · see citing works

Clinical practice guidelines for the care of girls and women with Turner syndrome.

Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works

[Verification of guideline for gastric cancer treatment based on a questionnaire].

Sekikawa, K., Ohki, S., Kohunato, Y., et al. (2004) · PubMed

[The guideline for the treatment of mood disorders in USA and Japan].

Higuchi, T. (2001) · PubMed · Cited by 2 · see citing works

Chapters 6-7

(2003) · Thorax · doi:10.1136/thx.58.suppl_1.i32 · Cited by 1 · see citing works

INTRODUCING AN OPERATIVE AND SUPERVISION GUIDELINE FOR HIP FRACTURE SURGERY REDUCED THE RATE OF RE-OPERATION FROM 15% TO 10%

Palm, H., Krasheninnikoff, M., Holck, K., et al. (2010) · Orthopaedic Proceedings

Effects of the Guideline of Community-aquired Pneumonia on the Achievement Ratio of CAP Therapy

He-lun, C. (2011) · Kunming Yike Daxue xuebao