Early Human Development
Volume 88, Issue 1 , Pages 3-8 , January 2012

Prenatal diagnosis: Types and techniques

References 

  1. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen. 2003;10(2):56–104
  2. Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economides DL. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population. Br J Obstet Gynaecol. 1999 Sep;106(9):929–936
  3. Souka AP, Nicolaides KH. Diagnosis of fetal abnormalities at the 10–14-week scan. Ultrasound Obstet Gynecol. 1997 Dec;10(6):429–442
  4. Snijders RJ, Brizot ML, Faria M, Nicolaides KH. Fetal exomphalos at 11 to 14 weeks of gestation. J Ultrasound Med. 1995 Aug;14(8):569–574
  5. Adonakis G, Spinos N, Tourikis J, Hasiotou H, Loutzi K, Kourounis G. A case of body stalk anomaly at 12weeks of gestation. Clin Exp Obstet Gynecol. 2008;35(3):218–220
  6. NICE . Antenatal care – routine care for the healthy pregnant woman – clinical guideline. National Collaborating Centre for Women's and Children's Health. 2nd ed.. RCOG Press; 2008;
  7. RCOG . Working party report on ultrasound screening. 2000;
  8. Pretlove SJ, Fox CE, Khan KS, Kilby MD. Noninvasive methods of detecting fetal anaemia: a systematic review and meta-analysis. BJOG. 2009 Nov;116(12):1558–1567
  9. Gardosi J. New definition of small for gestational age based on fetal growth potential. Horm Res. 2006;65(Suppl 3):15–18
  10. Gardosi J, Kady SM, McGeown P, Francis A, Tonks A. Classification of stillbirth by relevant condition at death (ReCoDe): population based cohort study. BMJ. 2005 Nov 12;331(7525):1113–1117
  11. Jacobsson B, Ahlin K, Francis A, Hagberg G, Hagberg H, Gardosi J. Cerebral palsy and restricted growth status at birth: population-based case–control study. BJOG. 2008 Sep;115(10):1250–1255
  12. Dudley NJ. A systematic review of the ultrasound estimation of fetal weight. Ultrasound Obstet Gynecol. 2005 Jan;25(1):80–89
  13. Pugash D, Brugger PC, Bettelheim D, Prayer D. Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis. Eur J Radiol. 2008 Nov;68(2):214–226
  14. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485–487
  15. RCOG . Noninvasive prenatal diagnosis using cell-free DNA in maternal blood. Scientific Advisory Committee. Opinion Paper 15. RCOG Press; 2009;
  16. Norbury G, Norbury CJ. Non-invasive prenatal diagnosis of single gene disorders: how close are we?. Semin Fetal Neonatal Med. 2008 Apr;13(2):76–83
  17. Lo YM, Tsui NB, Chiu RW, Lau TK, Leung TN, Heung MM, et al. Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med. 2007 Feb;13(2):218–223
  18. Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, et al. Preimplantation genetic diagnosis: state of the art. Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):9–13
  19. Harper JC, de Die-Smulders C, Goossens V, Harton G, Moutou C, Repping S, et al. ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod. 2008 Apr;23(4):741–755
  20. Shenfield F, Pennings G, Devroey P, Sureau C, Tarlatzis B, Cohen J. Taskforce 5: preimplantation genetic diagnosis. Hum Reprod. 2003 Mar;18(3):649–651
  21. Nekkebroeck J, Bonduelle M, Desmyttere S, Van den Broeck W, Ponjaert-Kristoffersen I. Mental and psychomotor development of 2-year-old children born after preimplantation genetic diagnosis/screening. Hum Reprod. 2008 Jul;23(7):1560–1566
  22. Lo-Beer NMaS JR. Management of HIV in pregnancy. RCOG Greentop guideline number 39. RCOG Press; 2004;
  23. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther.27(1):1–7.
  24. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev. 2003;3:CD003252
  25. Seeds JW. Diagnostic mid trimester amniocentesis: how safe?. Am J Obstet Gynecol. 2004 Aug;191(2):607–615
  26. Cameron AD. RCOG consent advice 6: amniocentesis. 2006;
  27. Dugoff L, Hobbins JC. Invasive procedures to evaluate the fetus. Clin Obstet Gynecol. 2002 Dec;45(4):1039–1053

PII: S0378-3782(11)00349-5

doi: 10.1016/j.earlhumdev.2011.11.003

Early Human Development
Volume 88, Issue 1 , Pages 3-8 , January 2012