Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. initial experience in Mexican women and literature review;Prueba prenatal no invasiva (NIPT) en sangre materna a través de secuenciación masiva paralela (MPS). Experiencia inicial en mujeres Mexicanas y revisión de la bibliografía

Ginecologia y Obstetricia de Mexico

Volumn 83, Issue 5, 2015, Pages 277-288

  Hernández Gómez, Mariana ^a   Ramírez Arroyo, Eva ^a   Meléndez Hernández, Ricardo ^a   Garduño Zarazúa, Luz María ^a   Mayén Molina, Dora Gilda ^b  

^a Hospital Ángeles Lomas ^*  (Mexico)

^b HOSPITAL ÁNGELES LOMAS   (Mexico)

Author keywords

Cell free fetal DNA (cffDNA); Non invasive prenatal test (NIPT); Prenatal screening

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CLINICAL ARTICLE; DESCRIPTIVE RESEARCH; DIAGNOSTIC TEST; FEMALE; HUMAN; MONOSOMY X; NON INVASIVE PROCEDURE; OBSERVATIONAL STUDY; PRENATAL SCREENING; PROSPECTIVE STUDY; SEX DETERMINATION; TRISOMY; UNIPARENTAL DISOMY; HIGH THROUGHPUT SEQUENCING; MEXICO; MIDDLE AGED; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; YOUNG ADULT;

ADULT; ANEUPLOIDY; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MEXICO; MIDDLE AGED; PREGNANCY; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; SEX DETERMINATION ANALYSIS; TRISOMY; YOUNG ADULT;

EID: 84929688958     PISSN: 03009041     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Gil M, et al. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn Ther 2013;35(3):182-189.
2. Mersy E, et al. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update 2013:dmt001.
3. Skirton H, Patch C. Factors affecting the clinical use of non‐invasive prenatal testing: a mixed methods systematic review. Pren Diagn 2013;33(6):532-541.
4. Wilson K, et al. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns 2013;22(1):4-15.
5. Wright CF. Cell-free nucleic acids for non-invasive prenatal diagnosis. Report of the UK expert working group. Foundation for Genomics and Population Health, 2009.
6. Norwitz ER, Levy B. Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol 2013;6(2):48-62.
7. Group TNPSW. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013;15(5):395-398.
8. Obstetricians, ACo and Gynecologists. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstet Gynecol 2012;120:1532-1534.
9. Benn P, et al. Prenatal detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012;32(1):1-2.
10. Sparks AB, et al. Selective analysis of cell‐free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012;32(1):3-9.
11. Chiu RW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.doi: 10.1136/bmj.c7401.
12. Juneau K, et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal DiagnTher 2014;36(4):282-286.
13. Bianchi DW, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119(5):890-901.
14. Bianchi DW, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370(9):799-808.
15. Devaney SA, et al. Non-invasive fetal sex determination using cell-free fetal DNA: a systematic review and metaanalysis. JAMA 2011;306(6):627-636.
16. Verweij E, et al. Diagnostic accuracy of non-invasive detection of fetal trisomy 21 in maternal blood: a systematic review. Fetal Diagn Ther 2011;31(2):81-86.
17. Norton ME, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012;207(2):137,e1-137. e8.
18. Wright CF, et al. Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis. BMC Res Notes 2012; 5(1):476.
19. Jiang F, et al. Non-invasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 2012;5(1): 57.
20. Mazloom AR, et al. Non-invasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell‐free DNA from maternal plasma. Prenat Diagn 2013;33(6):591-597.
21. Langlois SB. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma. J Obstet Gynaecol Can 2013;35(2):177-181.