Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 10 , ISSUE 2 ( April-June, 2016 ) > List of Articles

REVIEW ARTICLE

Screening for Fetal Aneuploidies in 1st Trimester

Apostolos P Athanasiadis, AI Zavlanos

Keywords : Aneuploidies,Noninvasive prenatal diagnosis,Nuchal translucency,PAPP-A serum,Trisomy 21,1st-trimester screening

Citation Information : Athanasiadis AP, Zavlanos A. Screening for Fetal Aneuploidies in 1st Trimester. Donald School J Ultrasound Obstet Gynecol 2016; 10 (2):147-153.

DOI: 10.5005/jp-journals-10009-1458

License: CC BY-NC 4.0

Published Online: 01-12-2016

Copyright Statement:  Copyright © 2016; The Author(s).


Abstract

How to cite this article

Athanasiadis AP, Zavlanos AI. Screening for Fetal Aneuploidies in 1st Trimester. Donald School J Ultrasound Obstet Gynecol 2016;10(2):147-153.


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  1. Review—screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011 Jan;31(1):7-15.
  2. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br Med J 1992 Apr 4;304(6831):867-869.
  3. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005 Apr;192(4):1005-1021.
  4. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004 Jul;191(1):45-67.
  5. Absence of nasal bone in fetuses with Trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet 2001 Nov 17;358(9294):1665-1667.
  6. Nasal bone in first-trimester screening for trisomy 21. Am J Obstet Gynecol 2006 Jul;195(1):109-114.
  7. Tricuspid regurgitation in the diagnosis of chromosomal anomalies in the fetus at 11–14 weeks of gestation. Heart 2003 Sep;89(9):1071-1073.
  8. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13+ week scan. Ultrasound Obstet Gynecol 2005 Jul;26(1):22-27.
  9. Fetal tricuspid regurgitation at the 11+0 to 13+6 week scan: association with chromosomal defects and reproducibility of the method. Ultrasound Obstet Gynecol 2006 Jun;27(6):609-612.
  10. Prospective validation of first-trimester combined screening for trisomy 21. Ultrasound Obstet Gynecol 2009 Jul;34(1):14-18.
  11. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009 Mar;33(3):259-264.
  12. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 – 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol 2009 Jan;33(1):18-22.
  13. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol 2009 May;33(5):512-517.
  14. Abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency. Ultrasound Obstet Gynecol 2010 Mar;35(3):267-272.
  15. Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome. Br J Obstet Gynaecol 1988 Apr;95(4):330-333.
  16. Low maternal serum level of pregnancy associated plasma protein (PAPP-A) in the first trimester in association with abnormal fetal karyotype. Br J Obstet Gynaecol 1993 Apr;100(4):324-326.
  17. Dimeric inhibin A as a marker for Down's syndrome in early pregnancy. N Engl J Med 1996 May 9;334(19):1231-1236.
  18. Maternal serum pregnancy associated placental protein A and fetal nuchal translucency thickness for the prediction of fetal trisomies in early pregnancy. Obstet Gynecol 1994 Dec;84(6):918-922.
  19. Screening for Triploidy by fetal nuchal translucency and maternal serum free â-hCG and PAPP-A at 10–14 weeks of gestation. Prenat Diagn 2000 Jun;20(6):495-499.
  20. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta hCG and PAPP-A at 10–14 weeks of gestation. Prenat Diagn 2000 May;20(5):411-416.
  21. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study. Health Technol Assess 2003 Apr;7(11):1-77.
  22. Antenatal screening for Down's syndrome with the quadruple test. Lancet 2003 Mar 8;361(9360):835-836.
  23. First trimester maternal serum biochemistry and fetal nuchal translucency screening (BUN) study group. First trimester screening for trisomies 21 and 18. N Engl J Med 2003 Oct 9;349(15):1405-1413.
  24. First- and Second-Trimester Evaluation of Risk Research Consortium. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med 2005 Nov 10;353(19):2001-2011.
  25. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013 Jul;33(7):667-674.
  26. Fetal fraction in maternal plasma cell-free DNA at 11–13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013 Jan;41(1):26-32.
  27. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013 Jul;33(7):662-666.
  28. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013 Jul;42(1):15-33.
  29. ESHRE Task Force on ethics and Law 20: sex selection for non-medical reasons. Hum Reprod 2013 Jun;28(6):1448-1454.
  30. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35(3): 156-173.
  31. Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta 2014 Feb;35(Suppl):S64-S68.
  32. Nuchal translucency thickness and crown-rump length in twin pregnancies with chromosomally abnormal fetuses. J Ultrasound Med 1995 Aug;14(8):565-568.
  33. Screening for trisomy 21 in twin pregnancies by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Br J Obstet Gynaecol 1996 Oct;103(10):999-1003.
  34. Fetal karyotyping in twin pregnancies: selection of technique by measurement of fetal nuchal translucency. Br J Obstet Gynaecol 1996 Sep;103(9):887-890.
  35. Nuchal translucency measurement and pregnancy outcome after assisted conception versus spontaneously conceived twins. Hum Reprod 2001 Sep;16(9):1999-2004.
  36. Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 2008 Jan;28(1):49-52.
  37. Early first-trimester free beta-hCG and PAPP-A serum distributions in monochorionic and dichorionic twins. Prenat Diagn 2009 Jan;29(1):74-78.
  38. Down syndrome risk calculation for a twin fetus taking account of the nuchal translucency in the co-twin. Prenat Diagn 2010 Sep;30(9):827-833.
  39. Screening for trisomies in dichorionic twins by measurement of fetal nuchal translucency thickness according to the mixture model. Prenat Diagn 2011 Jan;31(1):16-21.
  40. Screening for trisomy 21 in monochorionic twins by measurement of fetal nuchal translucency thickness. Ultrasound Obstet Gynecol 2005 Jun;25(6):551-553.
  41. Discordance in nuchal translucency thickness in the prediction of severe twin-to-twin transfusion syndrome. Ultrasound Obstet Gynecol 2007 May;29(5):527-532.
  42. ISUOG consensus statement on the impact of non-invasive prenatal testing on prenatal ultrasound practice. Ultrasound Obstet Gynecol 2014 Jul;. ISUOG consensus statement on the impact of non-invasive prenatal testing on prenatal ultrasound practice. Ultrasound Obstet Gynecol 2014 Jul; 44(1):122-123.
  43. 640. American College of Obstetricians and Gynecologists. Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015 Sep;126:e31-e37.
  44. Chorionic villus sampling and amniocentesis: recommendations for prenatal counseling. Morb Mortal Wkly Rep 1995;44(RR-9):1-12.
  45. Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial. Prenat Diagn 1999 Jul;19(7):620-627.
  46. Practice Bulletin No. 88: invasive prenatal testing for aneuploidy. Obstet Gynecol 2007 Dec;110(6):1459-1467.
  47. Prenat Diagn 1992 May;12(5):317-345.
  48. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986 Jun 7;1(8493):1287-1293.
  49. Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet 1992 Nov 21;340(8830): 1237-1244.
  50. Fetal loss rate after chorionic villus sampling and amniocentesis: an 11-year national registry study. Ultrasound Obstet Gynecol 2009 Jul;34(1):19-24.
  51. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010 Jan;27(1):1-7.
  52. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and metaanalysis. Ultrasound Obstet Gynecol 2015 Jan;45(1):16-26.
  53. Risk of fetal loss associated with invasive testing following combined firsttrimester screening for Down syndrome: a national cohort of 147 987 singleton pregnancies. Ultrasound Obstet Gynecol 2016 Jan;47(1):38-44.
  54. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol 2004 Jul;191(1):45-67.
  55. Editorial—some thoughts on the true value of ultrasound. Ultrasound Obstet Gynecol 2007 Oct;30(5):671-674.
  56. on behalf of the European Society of Human Genetics and the American Society of Human Genetics. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015 Nov;23(11):1-13.
  57. Noninvasive prenatal testing for aneuploidy-ready for prime time? Am J Obstet Gynecol 2012 Apr;206(4):269-275.
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