Cell-free DNA testing in the maternal blood in high-risk pregnancies after first-trimester combined screening

Prenatal Diagnosis

Volumn 36, Issue 3, 2016, Pages 232-236

  Persico, Nicola ^a   Boito, Simona ^a   Ischia, Benedetta ^a   Cordisco, Adalgisa ^b   De Robertis, Valentina ^c   Fabietti, Isabella ^a   Periti, Enrico ^b   Volpe, Paolo ^c   Fedele, Luigi ^a   Rembouskos, Georgios ^c  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b Palagi Hospital   (Italy)

^c Fetal Medicine Unit   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BLOOD SAMPLING; COMPARATIVE GENOMIC HYBRIDIZATION; DNA SCREENING; FEMALE; FIRST TRIMESTER PREGNANCY; HIGH RISK PREGNANCY; HUMAN; INVASIVE PROCEDURE; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL BLOOD; METHODOLOGY; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY 13; TRISOMY 18; TRISOMY 21; BLOOD; CELL FREE SYSTEM; CHEMISTRY; CLINICAL TRIAL; EVALUATION STUDY; GENETIC SCREENING; MATERNAL SERUM SCREENING TEST; MIDDLE AGED; MOTHER; MULTICENTER STUDY; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; TRISOMY; YOUNG ADULT;

ADULT; CELL-FREE SYSTEM; DNA; FEMALE; GENETIC TESTING; HUMANS; MATERNAL SERUM SCREENING TESTS; MIDDLE AGED; MOTHERS; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY, HIGH-RISK; PRENATAL DIAGNOSIS; TRISOMY; YOUNG ADULT;

EID: 84960102460     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4773     Document Type: Article

References (15)

1. Kagan KO, Wright D, Valencia C, et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod 2008;23:1968-75.
2. Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66.
3. Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;23(372): 1589-97.
4. Syngelaki A, Pergament E, Homfray T, et al. 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 Diagn Ther 2014;35:174-84.
5. 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.
6. Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32:1233-41.
7. 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.
8. Wright D, Wright A, Nicolaides KH. A unified approach to risk assessment for fetal aneuploidies. Ultrasound Obstet Gynecol 2015;45:48-54.
9. Gil MM, Quezada MS, Bregant B, et al. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42:34-40.
10. Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015;212:332.e1-9.
11. Papoulidis I, Sotiriadis A, Siomou E, et al. Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases. Prenat Diagn 2015. DOI:10.1002/pd.4685.
12. Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013;92:167-76.
13. Souka AP, Von Kaisenberg CS, Hyett JA, et al. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005;192:1005-21.
14. Chitty LS, Kagan KO, Molina FS, et al. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 2006;332:452-5.
15. Gil MM, Revello R, Poon LC, et al. Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test. Ultrasound Obstet Gynecol 2015. DOI:10.1002/uog.15783.