Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: Impact on the diagnosis of other chromosomal abnormalities

Fetal Diagnosis and Therapy

Volumn 35, Issue 3, 2014, Pages 174-184

  Syngelaki, Argyro ^a   Pergament, Eugene ^b   Homfray, Tessa ^a   Akolekar, Ranjit ^c   Nicolaides, Kypros H ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b Northwestern Reproductive Genetics   (United States)

^c MEDWAY MARITIME HOSPITAL   (United Kingdom)

Author keywords

Aneuploidies; Cell free DNA testing; Chorionic villus sampling; Fetal karyotyping; First trimester screening

Indexed keywords

ADULT; ADVERSE OUTCOME; ARTICLE; CELL FREE DNA TESTING; CHORION VILLUS SAMPLING; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; GENETIC SCREENING; HUMAN; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; KARYOTYPE 47,XYY; MAJOR CLINICAL STUDY; MONOSOMY X; PRENATAL DIAGNOSIS; PREVALENCE; SEX CHROMOSOME ABERRATION; TRIPLOIDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; CELL FREE SYSTEM; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME ABERRATION; CHROMOSOME DISORDERS; DOWN SYNDROME; EMBRYOLOGY; GENETICS; KARYOTYPING; PHYSIOLOGY; PREGNANCY; PROCEDURES; STANDARDS; TRISOMY;

DNA;

ADULT; CELL-FREE SYSTEM; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DNA; DOWN SYNDROME; FEMALE; HUMANS; KARYOTYPING; PREGNANCY; TRISOMY;

EID: 84908885359     PISSN: 10153837     EISSN: 14219964     Source Type: Journal    
DOI: 10.1159/000358388     Document Type: Article

References (15)

1. Nicolaides KH: Screening for fetal aneuploi-dies at 11-13 weeks. Prenat Diagn 2011; 31: 7-15.
2. Kagan KO, Wright D, Valencia C, Maiz N, Nicolaides KH: Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translu-cency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008; 23:1968-1975.
3. Wright D, Syngelaki A, Bradbury I, Akolekar R, Nicolaides KH: First trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther 2013, DOI: 10.1159/000357430.
4. Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH: Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2013, DOI:10.1159/000358326.
5. Nicolaides KH, Syngelaki A, Gil MM, Queza-da MS, Zinevich Y: Prenatal diagnosis of triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther 2013, DOI: 10.1159/000355655.
6. nd generation genome-wide test for fetal aneu-ploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 2013; 33:707-710.
7. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP: Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013; 92:167-176.
8. Nielsen J, Wohlert M: Chromosome abnormalities found among 34, 910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991; 87:81-83.
9. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B: Randomised controlled trial of genetic amniocentesis in 4, 606 low-risk women. Lancet 1986; 1:1287-1293.
10. Snijders RJM, Sebire NJ, Nicolaides KH: Maternal age and gestational age-specific risks for chromosomal defects. Fetal Diagn Ther 1995; 10:356-367.
11. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L: Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367:2175-2184.
12. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, Mullaney C, Calzolari E, Bakker M, Salvador J, Addor MC, Draper E, Rankin J, Tucker D: Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet 2012; 20:521-526.
13. Grati FR, Barlocco A, Grimi B, Milani S, Fra-scoli G, Di Meco AM, Liuti R, Trotta A, Chi-netti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G: Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. Am J Med Genet A 2010; 152A:1434-1442.
14. Nicolaides KH, Syngelaki A, Poon LC, Gil M, Wright D: First-trimester contingent screening for trisomies 21, 18 and 13 by biomarkers and maternal blood cell-free DNA testing. Fetal Diagn Ther 2014;35:185-192.
15. Wilson JMG, Jungner G: Principles and Practice of Screening for Disease. Geneva, WHO, 1968. http://www.who.int/bulletin/volumes/86/4/07-050112BP.pdf.