Prenatal invasive testing: A 13-year single institution experience

Journal of Maternal-Fetal and Neonatal Medicine

Volumn 27, Issue 12, 2014, Pages 1209-1212

  Comas, Carmen ^a   Echevarria, Mónica ^a   Rodríguez, Ignacio ^a   Serra, Bernat ^a   Cirigliano, Vincenzo ^b  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b Department of Molecular Genetics LABCO Diagnostics ^*  (Spain)

Author keywords

Audit; Chromosome abnormalities; Down syndrome; Karyotyping; Screening

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; BLOOD EXAMINATION; CHORION VILLUS SAMPLING; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL EFFECTIVENESS; COHORT ANALYSIS; FEMALE; FIRST TRIMESTER PREGNANCY; HEALTH CARE POLICY; HUMAN; INVASIVE PROCEDURE; KARYOTYPE; MATERNAL AGE; MEDICAL PRACTICE; NUCHAL TRANSLUCENCY MEASUREMENT; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCREENING TEST; ULTRASOUND; ANEUPLOIDY; CHROMOSOME DISORDERS; GENETIC SCREENING; INCIDENCE; KARYOTYPING; PATIENT REFERRAL; PREGNANCY; PROCEDURES; STATISTICS AND NUMERICAL DATA;

ADULT; AMNIOCENTESIS; ANEUPLOIDY; CHORIONIC VILLI SAMPLING; CHROMOSOME DISORDERS; FEMALE; GENETIC TESTING; HUMANS; INCIDENCE; KARYOTYPING; PREGNANCY; PRENATAL DIAGNOSIS; REFERRAL AND CONSULTATION; RETROSPECTIVE STUDIES;

EID: 84903978215     PISSN: 14767058     EISSN: 14764954     Source Type: Journal    
DOI: 10.3109/14767058.2013.855893     Document Type: Article

References (22)

1. Sherman L, Allen EG, Bean LH, et al. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev 2007;13:221-7.
2. Ogivile CM. Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathol Biol 2003;51:156-60.
3. Lewis M, Faed MJ, Howie PW. Screening for Down's syndrome based on individual risk. BMJ 1991;303:551-3.
4. Spencer K, Spencer CE, Power M, et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG 2003;110:281-6.
5. Borrell A, Casals E, Fortuny A, et al. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study. Prenat Diagn 2004;24:541-5.
6. Comas Gabriel C, Echevarria Teller?́a M, Muñoz Prades A, et al. 10 años de experiencia en diagnóstico prenatal invasivo en el Instituto Dexeus. Diagn Prenat 2011;22:117-27.
7. Ekelund CK, Jørgensen FS, Petersen OB, et al. Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study. BMJ 2008;337:a2547. doi:10.1136/ bmj.a2547.
8. Vestergaard CH, Lidegaard , Tabor A. Invasive prenatal diagnostic practice in Denmark 1996 to 2006. Acta Obstet Gynecol Scand 2009;88:362-5.
9. Lichtenbelt KD, Alizadeh BZ, Scheffer PG, et al. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009. Prenat Diagn 2011;31:765-72.
10. Morris JK, Waters JJ, de Souza E. The population impact of screening for Down syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008. Prenat Diagn 2012;32: 596-601.
11. Mademont-Soler I, Morales C, Clusellas N, et al. Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade. Eur J Obstet Gynecol Reprod Biol 2011;157:156-60.
12. Lee CN, Lin SY, Lin CH, et al. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 2012;119:614-25.
13. Querejeta ME, Nieva B, Navajas J, et al. Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo. Diagn Prenat 2012;23: 49-55.
14. Armengol L, Nevado J, Serra-Juhé C, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012;131:513-23.
15. Fiorentino F, Caiazzo F, Napolitano S, et al. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenat Diagn 2011;31:1270-82.
16. Breman A, Pursley AN, Hixson P, et al. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with 41000 cases and review of the literature. Prenat Diagn 2012;32: 351-61.
17. Fiorentino F, Baldi M. Re. Microarray application in prenatal diagnosis: a position statement from cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol 2012;39:601-2.
18. Hillman SC, Pretlove S, Coomarasamy A, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011;37:6-14.
19. Hillman SC, Mcmullan DJ, Williams D, et al. Microarray comparative genomic hybridization in prenatal diagnosis: a review. Ultrasound Obstet Gynecol 2012;40:385-91.
20. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367: 2175-84.
21. Fiorentino F, Napoletano S, Caiazzo F, et al. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet 2013;21:725-30.
22. Novelli A, Grati FR, Ballarati L, et al. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet Gynecol 2012;39:384-8.