Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis: Chromosome abnormality screening statement

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

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 939

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., Spitz, J. L., Hollemon, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1407349 · Cited by 817

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., To, W. W. K., et al. (2011) · BMJ · doi:10.1136/bmj.c7401 · Cited by 774

Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis

Akolekar, R., Beta, J., Picciarelli, G., Ogilvie, C., & D'Antonio, F. (2015) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.14636 · Cited by 711

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Bianchi, D. W., Platt, L. D., Goldberg, J. D., Abuhamad, A. Z., Sehnert, A. J., & Rava, R. P. (2012) · Obstetrics & Gynecology · doi:10.1097/aog.0b013e31824fb482 · Cited by 644

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 624

DNA Sequencing versus Standard Prenatal Aneuploidy Screening

Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., 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 620

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., Karimi, A., Laurent, L. C., Caughey, A. B., Rodriguez, M. H., Williams, J., Mitchell, M. E., Adair, C. D., et al. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.05.021 · Cited by 596

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 520

Challenges in the diagnosis of fetal non‐chromosomal abnormalities at 11–13 weeks

Syngelaki, A., Chelemen, T., Dagklis, T., Allan, L., & Nicolaides, K. H. (2011) · Prenatal Diagnosis · doi:10.1002/pd.2642 · Cited by 498

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., Lu, V., McCullough, R., 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 472

DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

Rochon, M. L. (2014) · Cited by 468

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

Wang, E., Batey, A., Struble, C., Musci, T., Song, K., & Oliphant, A. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4119 · Cited by 440

Update on Procedure-Related Risks for Prenatal Diagnosis Techniques

Tabor, A., & Alfirevic, Z. (2010) · Fetal Diagnosis and Therapy · doi:10.1159/000271995 · Cited by 399

Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M., Liu, Q., Tian, Z., et al. (2015) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.14792 · Cited by 389

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 360

AIUM Practice Guideline for the Performance of Obstetric Ultrasound Examinations

(2013) · Journal of Ultrasound in Medicine · doi:10.7863/ultra.32.6.1083 · Cited by 337

Meta‐analysis of second‐trimester markers for trisomy 21

Agathokleous, M., Chaveeva, P., Poon, L. C. Y., Kosinski, P., & Nicolaides, K. H. (2013) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12364 · Cited by 329

Non‐invasive prenatal testing for aneuploidy: current status and future prospects

Benn, P., Cuckle, H., & Pergament, E. (2013) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.12513 · Cited by 326

Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

Ashoor, G., Syngelaki, A., Wagner, M., Birdir, C., & Nicolaides, K. H. (2012) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2012.01.029 · Cited by 325

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes

Wapner, R. J., Babiarz, J. E., Levy, B., Stosic, M., Zimmermann, B., Sigurjonsson, S., Wayham, N., Ryan, A., Banjevic, M., Lacroute, P., et al. (2015) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.11.041 · Cited by 325

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., et al. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2013.215145 · Cited by 315

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

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

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., 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 277

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. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4103 · Cited by 237

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

Osborne, C. M., Hardisty, E., Devers, P., Kaiser‐Rogers, K., Hayden, M. A., Goodnight, W., & Vora, N. L. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4100 · Cited by 231

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 230

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

Mazloom, A. R., Džakula, Ž., Oeth, P., Wang, H., Jensen, T., Tynan, J., McCullough, R., Saldivar, J., Ehrich, M., van den Boom, D., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4127 · Cited by 200

Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14‐week scan

Cicero, S., Rembouskos, G., Vandecruys, H., Hogg, M., & Nicolaides, K. H. (2004) · Ultrasound in Obstetrics & Gynecology · doi:10.1002/uog.992 · Cited by 192

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., & Liu, J. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4160 · Cited by 185

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., Marusiak, B., Ehrich, M., van den Boom, D., Deciu, C., & Bombard, A. (2014) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2014.03.042 · Cited by 183

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

Rava, R. P., Srinivasan, A., Sehnert, A. J., & Bianchi, D. W. (2014) · Clinical Chemistry · doi:10.1373/clinchem.2013.207951 · Cited by 168

Association of Copy Number Variants With Specific Ultrasonographically Detected Fetal Anomalies

Donnelly, J. C., Platt, L. D., Rebarber, A., Zachary, J., Grobman, W. A., & Wapner, R. J. (2014) · Obstetrics & Gynecology · doi:10.1097/aog.0000000000000336 · Cited by 165

Detection of fetal structural abnormalities at the 11–14 week ultrasound scan

Carvalho, M. H. B., Brizot, M. L., Lopes, L. M., Chiba, C. H., Miyadahira, S., & Zugaib, M. (2002) · Prenatal Diagnosis · doi:10.1002/pd.200 · Cited by 165

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis

Grati, F. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3030809 · Cited by 164

Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma

Zhao, C., Tynan, J. A., Ehrich, M., Hannum, G., McCullough, R. M., Saldivar, J., Oeth, P., van den Boom, D., & Deciu, C. (2015) · Clinical Chemistry · doi:10.1373/clinchem.2014.233312 · Cited by 154

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

Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results

Snyder, M. W., Simmons, L. E., Kitzman, J. O., Coe, B. P., Henson, J. M., Daza, R. M., Eichler, E. E., Shendure, J., & Gammill, H. S. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1408408 · Cited by 138

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 120

Role of Second-Trimester Genetic Sonography After Down Syndrome Screening

Aagaard-Tillery, K. M., Malone, F. D., Nyberg, D. A., et al. (2009) · Obstetrics and Gynecology · doi:10.1097/aog.0b013e3181c15064 · Cited by 120

Trisomy 13 detection in the first trimester of pregnancy using a chromosome‐selective cell‐free DNA analysis method

Ashoor, G., Syngelaki, A., Wang, E., Struble, C. A., Oliphant, A., Song, K., & Nicolaides, K. H. (2012) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.12299 · Cited by 115

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

RETIRED: Fetal Soft Markers in Obstetric Ultrasound

den Hof, M. C. V., & Wilson, R. D. (2005) · Journal of Obstetrics and Gynaecology Canada · doi:10.1016/s1701-2163(16)30720-4 · Cited by 112

Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood

Nicolaides, K. H., Syngelaki, A., Gil, M. M., Quezada, M. S., & Zinevich, Y. (2013) · Fetal Diagnosis and Therapy · doi:10.1159/000355655 · Cited by 108

Screening for trisomies 21, 18 and 13 by cell‐free DNA analysis of maternal blood at 10–11 weeks' gestation and the combined test at 11–13 weeks

Quezada, M. S., Gil, M. M., Francisco, C., Orosz, G., & Nicolaides, K. H. (2014) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.14664 · Cited by 103

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

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

Juneau, K., Bogard, P. E., Huang, S., Mohseni, M., Wang, E. T., Ryvkin, P., Kingsley, C. B., Struble, C. A., Oliphant, A., & Zahn, J. M. (2014) · Fetal Diagnosis and Therapy · doi:10.1159/000367626 · Cited by 95

Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

Nicolaides, K. H., Musci, T. J., Struble, C. A., Syngelaki, A., & Gil, M. M. (2013) · Fetal Diagnosis and Therapy · doi:10.1159/000357198 · Cited by 92

Cell-free DNA screening for fetal aneuploidy as a clinical service

Cuckle, H., BENN, P. A., & Pergament, E. (2015) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2015.02.011 · Cited by 87

Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?

Mennuti, M. T., Cherry, A. M., Morrissette, J. J. D., & Dugoff, L. (2013) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2013.03.027 · Cited by 86

Discordant results between fetal karyotyping and non‐invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

Pan, M., Li, F. T., Li, Y., Jiang, F. M., Li, D. Z., Lau, T. K., & Liao, C. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4069 · Cited by 77

A robust second‐generation genome‐wide test for fetal aneuploidy based on shotgun sequencing cell‐free DNA in maternal blood

Guex, N., Iseli, C., Syngelaki, A., Deluen, C., Pescia, G., Nicolaides, K. H., Xénarios, I., & Conrad, B. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4130 · Cited by 57

European Non‐Invasive Trisomy Evaluation (EU‐NITE) study: a multicenter prospective cohort study for non‐invasive fetal trisomy 21 testing

Verweij, E. J. T., Jacobsson, B., van Scheltema, P. N. A., de Boer, M. A., Hoffer, M. J. V., Hollemon, D., Westgren, M., Song, K., & Oepkes, D. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4182 · Cited by 46

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

Stümm, M., Entezami, M., Haug, K., Blank, C., Wüstemann, M., Schulze, B., Raabe‐Meyer, G., Hempel, M., Schelling, M., Ostermayer, E., et al. (2013) · Prenatal Diagnosis · doi:10.1002/pd.4278 · Cited by 43

Additional First-Trimester Ultrasound Markers

Sonek, J., & Nicolaides, K. H. (2010) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2010.04.004 · Cited by 36

Model-Predicted Performance of Second-Trimester Down Syndrome Screening With Sonographic Prenasal Thickness

Miguelez, J., Moskovich, M., Cuckle, H., Zugaib, M., Bunduki, V., & Maymon, R. (2010) · Journal of Ultrasound in Medicine · doi:10.7863/jum.2010.29.12.1741 · Cited by 33

Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis

BENN, P. A. (2009) · Wiley eBooks · doi:10.1002/9781444314342.ch6 · Cited by 24

Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT).

Jia, Y., Zhao, H., Shi, D., Peng, W., Xie, L., Wang, W., Jiang, F., Zhang, H., & Wang, X. (2014) · PubMed Central · Cited by 16

Sequencing of Circulating Cell-free DNA during Pregnancy

Bianchi, D. W., & Chiu, R. W. K. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1705345 · Cited by 313

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

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

Hui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6357 · Cited by 109

Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results

Lo, T.-K., Chan, K. Y.-K., Kan, A. S.-Y., So, P.-L., Kong, C.-W., Mak, S.-L., & Lee, C.-N. (2019) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2017.1378323 · Cited by 24