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

Prenatal Diagnosis

Volumn 35, Issue 8, 2015, Pages 725-734

  Benn, Peter ^a   Borrell, Antoni ^b   Chiu, Rossa W K ^c   Cuckle, Howard ^d   Dugoff, Lorraine ^e   Faas, Brigitte ^f   Gross, Susan ^g   Huang, Tianhua ^h   Johnson, Joann ⁱ   Maymon, Ron ^j   Norton, Mary ^k   Odibo, Anthony ^l   Schielen, Peter ^m   Spencer, Kevin ⁿ   Wright, Dave ^o   Yaron, Yuval ^p  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b UNIVERSITY OF BARCELONA   (Spain)

^c CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^d NewYork Presbyterian Hospital   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^h NORTH YORK GENERAL HOSPITAL   (Canada)

ⁱ UNIVERSITY OF CALGARY   (Canada)

^j TEL AVIV UNIVERSITY   (Israel)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF SOUTH FLORIDA   (United States)

^m NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

ⁿ KING GEORGE HOSPITAL   (United Kingdom)

^o UNIVERSITY OF EXETER   (United Kingdom)

^p TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; AUTOSOMAL DISORDER; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ASSESSMENT; CLINICAL EVALUATION; CLINICAL PRACTICE; CLINICAL PROTOCOL; DNA SCREENING; FETUS DISEASE; FETUS ECHOGRAPHY; FIRST TRIMESTER PREGNANCY; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GESTATIONAL AGE; HEALTH CARE SYSTEM; HIGH RISK INFANT; HUMAN; INTERMETHOD COMPARISON; KARYOTYPE; MEDICAL SOCIETY; MULTIPLE PREGNANCY; PATIENT COUNSELING; PRENATAL CARE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; QUALITY CONTROL; RISK ASSESSMENT; RISK FACTOR; SCREENING TEST; SECOND TRIMESTER PREGNANCY; SEX CHROMOSOME; SEX CHROMOSOME ABERRATION; TRISOMY 13; TRISOMY 18; TRISOMY 21; TWIN PREGNANCY; VALIDATION STUDY; CHROMOSOME DISORDERS; FEMALE; HEALTH; PRACTICE GUIDELINE; PREGNANCY; PROCEDURES; STANDARDS;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FEMALE; GLOBAL HEALTH; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 84938751857     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4608     Document Type: Article

References (71)

1. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.
2. Donnelly JC, Platt LD, Rebarber A, et al. Association of copy number variants with specific ultrasonographically detected fetal anomalies. Obstet Gynecol 2014;124:83-90.
3. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
4. Akolekar R, Beta J, Picciarelli G, et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45:16-26.
5. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.
6. Davis C, Cuckle H, Yaron Y. Screening for Down syndrome-incidental diagnosis of other aneuploidies. Prenat Diagn 2014;34:1044-8.
7. Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validation study. Brit Med J 2011;342:c7401.
8. Ehrich M, Deciu C, Zweifellhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;204:205.e201-11.
9. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13:913-20.
10. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 2012;14:296-305.
11. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901.
12. Liang D, Lv W, Wang H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013;33:409-15.
13. Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013;33:700-6.
14. Mazloom AR, Dzakula Z, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33:591-7.
15. Stumm M, Entezami M, Haug K, et al. Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe. Prenat Diagn 2014;34:185-91.
16. Porreco RP, Garite TJ, Maurel K, et al. 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. Am J Obstet Gynecol 2014;211:365.e1-12.
17. Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808.
18. Ashoor G, Syngelaki A, Wagner M, et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;206:322.e1-5.
19. Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy. Am J Obstet Gynecol 2012;207:137.e1-8.
20. Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.e1-6.
21. Ashoor G, Syngelaki A, Wang E, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 2013;41:21-5.
22. Verweij EJ, Jacobsson B, van Scheltema PA, et al. European Non-Invasive Trisomy Evaluation (EU-NITE) study: a multicenter prospective cohort study for non-invasive fetal trisomy 21 testing. Prenat Diagn 2013;22:1--6.
23. Nicolaides KH, Musci TJ, Struble CA, et al. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther 2014;35:1-6.
24. Norton, ME, Jacobsson B, Swamy GK et al. Cell-free DNA analysis for non-invasive examination of trisomy. N Engl J Med 2015;372:1589-97.
25. Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33:575-9.
26. Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124:210-8.
27. Juneau K, Bogard PE, Huang S, et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther 2014;36(4):282-6.
28. Dan S, Wang W, Ren J, et al. 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. Prenat Diagn 2012;32:1225-32.
29. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211(5):527.e1-17.
30. Zhang H, Gao Y, Jiang F, et al. Noninvasive prenatal testing for trisomy 21, 18 and 13-clinical experience from 146, 958 pregnancies. Ultrasound Obstet Gynecol 2015;45:530-8.
31. Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014;60:251-9.
32. Grati FR. Chromosomal mosaicism in human feto-placental development implications for prenatal diagnosis. J Clin Med 2014;3:809-37.
33. Pan M, Li FT, Li Y, et al. 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. Prenat Diagn 2013;33:598-601.
34. Wang Y, Zhu J, Chen Y, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn 2013;33:1207-10.
35. Canick JA, Palomaki GE, Kloza EM, et al. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013;33:667-74.
36. Cheung S, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med 2015;372:1675-7.
37. Nicolaides KH, Syngelaki A, del Mar GM, et al. Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther 2014;35:212-7.
38. Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem 2014;60:243-50.
39. Quezada MS, Gil MD, Francisco C, et al. 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 11-13weeks. Ultrasound Obstet Gynecol 2015;45:36-41.
40. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. Circulating cell free DNA testing: are some test failures informative? Prenat Diagn 2015;35:289-93.
41. Lau TK, Jiang FM, Stevenson RJ, et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013;33:602-8.
42. Jia Y, Zhao H, Shi D, et al. Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT). Int J Clin Exp Pathol 2014;7:7003-11.
43. Osborne CM, Hardisty E, Devers P, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013;33:609-11.
44. Snyder MW, Simmons LE, Kitzman JO et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med 2015;372:1639-45.
45. Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013;33:569-74.
46. Grömminger S, Yagmur E, Erkan S, et al. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality Issues with vanishing twins. J Clin Med 2014;3:679-92.
47. McCullough RM, Almasri EA, Guan X et al. Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100, 000 clinical samples. PLoS One. 2014;9:e109173.
48. Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013;33:662-6.
49. Zalel Y. Non-invasive prenatal testing-it's all a matter of timing. Ultrasound Obstet Gynecol 2015;45:115-6.
50. Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 2013;209:415-9.
51. Hall AL, Drendel HM, Verbrugge JL, et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013;15:729-32.
52. Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. In Circulating Nucleic Acids, A Clinical Biochemistry Special Issue, Chiu R, Oudejans C. Clin Biochem 2015.DOI:10.1016/j.clinbiochem.2015.02.011. [Epub ahead of print].
53. Guax N, Iseli C, Syngelaki A, et al. A robust 2nd generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 2013;33:1-4.
54. Benn PA. Prenatal diagnosis of chromosome abnormalities through amniocentesis. In Genetic Disorders and the Fetus, Milunsky A, Milunsky JM (eds), 6th ed. Wiley-Blackwell: Chichester UK; 2010. p 194-272.
55. Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of non-invasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015;212:332.e1-9.
56. Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 2015;61:608-16.
57. Syngelaki A, Chelemen T, Dagklis T, et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13weeks. Prenat Diagn 2011;31:90-102.
58. Sonek J, Nicolaides K. Additional first-trimester markers. Clin Lab Med 2010;30:573-92.
59. Miguelez J, Moskovitch M, Cuckle H, et al. Model-predicted performance of second-trimester Down syndrome screening with sonographic prenasal thickness. J Ultrasound Med 2010;29:1741-7.
60. Aagaard-Tillery KM, Malone FD, Nyberg DA, et al. Role of second-trimester genetic sonography after Down syndrome screening. Obstet Gynecol 2009;114:1189-96.
61. Agathokleous M, Chaveeva P, Poon LC, et al. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247-61.
62. UK National Screening Committee. 2009. Normal variant screening in pregnancy. URL http://fetalanomaly.screening.nhs.uk [Accessed December 28, 2014].
63. Van den Hof MC, Wilson RD, Bly S, et al. Fetal soft markers in obstetric ultrasound. J Obstet Gynaecol Can 2005;27:592-612.
64. Masden HN, Ball S, Wright D, et al. A reassessment of biochemical marker distributions in trisomy 21 affected and unaffected twin pregnancies in the first trimester. Ultrasound Obstet Gynecol 2011;37:38-47.
65. Spencer K, Staboulidou I, Nicolaides KH. First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers. Prenat Diagn 2010;30:235-40.
66. Huang T, Boucher K, Aul R, et al. First and second trimester maternal serum markers in pregnancies with a vanishing twin. Prenat Diagn 2015;35:90-6.
67. American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med 2013;32:1083-101.
68. Cuckle H, Benn P. 2010. Multianalyte maternal serum screening for chromosomal defects. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment (6th edn), Milunsky A, Milunsky JM (eds). Johns Hopkins University Press, Baltimore.
69. Cicero S, Rembouskos G, Vandecruys H, et al. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14-week scan. Ultrasound Obstet Gynecol 2004;23:218-23.
70. Huang T, Dennis A, Meschino WS, et al. First trimester screening for Down syndrome using nuchal translucency, maternal serum pregnancy-associated plasma protein A, free-β human chorionic gonadotrophin, placental growth factor and α-fetoprotein. Prenat Diagn 2015; in Press.
71. Cuckle H, Aitken D, Goodburn S, et al. Age-standardisation for monitoring performance in Down's syndrome screening programmes. Prenat Diagn 2004;24:851-6.