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International Journal of Gynecology & Clinical Practices Volume 3 (2016), Article ID 3:IJGCP-116, 4 pages
http://dx.doi.org/10.15344/2394-4986/2016/116
Research Article
Prenatal Invasive Fetal Karyotyping in the Era of First Trimester Screening and Noninvasive Prenatal Testing (NIPT)

Christel Eckmann-Scholz*, C. Berninghaus, A. Farrokh, N. Maass and I. Alkatotut

Department of Gynecology & Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel & Christian-Albrechts-University Kiel, Kiel, Germany
Dr. Christel Eckmann-Scholz, Department of Gynecology & Obstetrics, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Straße 3, Germany; E-mail: christel.eckmann@uksh.de
15 January 2016; 15 May 2016; 17 May 2016
Eckmann-Scholz C, Berninghaus C, Farrokh A, Maass N, Alkatotut I (2016) Prenatal Invasive Fetal Karyotyping in the Era of First Trimester Screening and Noninvasive Prenatal Testing (NIPT). Int J Gynecol Clin Pract 3: 116. doi: http://dx.doi.org/10.15344/2394-4986/2016/116

References

  1. Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH (1998) UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 352: 343- 346 [CrossRef] [Google Scholar] [PubMed]
  2. Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH (1998) Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 11: 391-400 [CrossRef] [Google Scholar] [PubMed]
  3. Bilardo CM, Müller MA, Pajkrt E, Clur SA, van Zalen MM, et al. (2007) Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Ultrasound Obstet Gynecol 30: 11-18 [CrossRef] [Google Scholar] [PubMed]
  4. Nicolaides KH (2004) Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 191: 45-67 [CrossRef] [Google Scholar] [PubMed]
  5. Wilson RD, Langlois S, Johnson JA; Society of Obstetricians and Gynaecologists of Canada (2007) Mid-trimester amniocentesis fetal loss rate. J Obstet Gynaecol Can 29: 586-595 [CrossRef] [Google Scholar] [PubMed]
  6. Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F (2015) Procedurerelated risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 45:16-26 [CrossRef] [Google Scholar] [PubMed]
  7. Pandya PP, Snijders RJ, Johnson SP, De Lourdes Brizot M, Nicolaides KH (1995) Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol 102: 957-962 [CrossRef] [Google Scholar] [PubMed]
  8. Chaoui R, Nicolaides KH (2010) From nuchal translucency to intracranial translucency: towards the early detection of spina bifida. Ultrasound Obstet Gynecol 35:133-138 [CrossRef] [Google Scholar] [PubMed]
  9. Wiechec M, Knafel A, Nocun A (2015) Prenatal detection of congenital heart defects at the 11- to 13-week scan using a simple color Doppler protocol including the 4-chamber and 3-vessel and trachea views. J Ultrasound Med 34: 585-594 [CrossRef] [Google Scholar] [PubMed]
  10. Nicolaides KH (2011) A model for a new pyramid of prenatal care based on the 11 to 13 weeks' assessment. Prenat Diagn 31: 3-6 [CrossRef] [Google Scholar] [PubMed]
  11. Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 34: 14-18 [CrossRef] [Google Scholar] [PubMed]
  12. Maiz N, Valencia C, Kagan KO, Wright D, Nicolaides KH (2009) Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. Ultrasound Obstet Gynecol 33: 512-517 [CrossRef] [Google Scholar] [PubMed]
  13. Kagan KO, Etchegaray A, Zhou Y, Wright D, Nicolaides KH (2009) Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 34: 14-18 [CrossRef] [Google Scholar] [PubMed]
  14. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP (2013) Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 92: 167-176 [CrossRef] [Google Scholar] [PubMed]
  15. Tabor A, Vestergaard CH, Lidegaard O (2009) Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 34: 19-24 [CrossRef] [Google Scholar] [PubMed]
  16. Chitayat D, Langlois S, Wilson RD (2011) Genetics Committee of the Society of O, Gynaecologists of C, Prenatal Diagnosis Committee of the Canadian College of Medical G: Prenatal screening for fetal aneuploidy in singleton pregnancies. J d'obstetrique et gynecol 33: 736-750 [CrossRef] [PubMed]
  17. Grinshpun-Cohen J, Miron-Shatz T, Rhee-Morris L, Briscoe B, Pras E, et al. (2015) A Priori Attitudes Predict Amniocentesis Uptake in Women of Advanced Maternal Age: A Pilot Study. J Health Commun 20: 1107-1113 [CrossRef] [Google Scholar] [PubMed]
  18. Gil MM, Akolekar R, Quezada MS, Bregant B, Nicolaides KH (2014) Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 35: 156-173 [CrossRef] [Google Scholar] [PubMed]
  19. Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, et al. (2013) Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns 22: 291-295 [CrossRef] [Google Scholar] [PubMed]