Screening for Fetal Abnormalities

  • Alec McEwanEmail author


In the UK, the National Institute of Clinical Excellence (NICE) recommends in its 2012 guideline on antenatal care that all pregnant women should be offered screening for fetal abnormalities as detailed by the UK National Screening Committee, (UK NSC) and its subgroup, the Fetal Anomaly Screening Programme (FASP). Worldwide, there is huge variation in the provision of antenatal screening for fetal anomalies, but where it is available, either privately or through the state, it tends to focus on the detection of aneuploidy (trisomies 13, 18 and 21) and structural abnormalities. This review summarises the already well established screening methods for fetal abnormalities and also introduces newer emerging techniques. Women conceiving by assisted reproductive technologies (ART) are faced by the same screening choices as those who conceive spontaneously, but the counselling they receive needs to take into account the method of conception and the impact that this has on the risk of anomalies, the performance of the screening tests and the attitudes of the women and their partners.


Maternity Pregnancy Screening Multiple Down syndrome Anomaly Assisted conception Pregnancy complication 


  1. 1.
    Fetal Anomaly Screening Programme Standards 2015–2016. First trimester combined screening for trisomy 13 and trisomy 18. External review against programme appraisal criteria for the UK National Screening Committee (UK NSC), version 5. Bazian Ltd. October 2013.
  2. 2.
    Smith-Bindman R, Chu P, Goldberg JD. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn. 2007;27:535–44.CrossRefPubMedGoogle Scholar
  3. 3.
    Cuckle H, Maymon R. Role of second-trimester ultrasound in screening for Down syndrome. Ultrasound Obstet Gynecol. 2013;41:241–4.CrossRefPubMedGoogle Scholar
  4. 4.
    Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Circulating nucleic acids, a Clinical Biochemistry Special Issue. 2015;48(15):932–41.Google Scholar
  5. 5.
    Agathokleous M, Chaveeva P, Poon LCY, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol. 2013;41:247–61.CrossRefPubMedGoogle Scholar
  6. 6.
    Lo DYM, Corbetta N, Chamberlain P, Rai V, Sargent IL, Redman CWG, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485–7.CrossRefPubMedGoogle Scholar
  7. 7.
    Taylor Phillips S, Freeman K, Geppert J, Madan J, Uthman O, Agbebiyi A, Clarke A, Quenby S. Systematic review and cost consequences assessment of cell-free DNA testing for T21, T18 and T13 in the UK – Final Report. 2015. In press and available through the FASP website.Google Scholar
  8. 8.
    Benn P, Borrell A, Chiu R, Cuckle H, Dugoff L, Brigitte F, Gross S, Johnson J, Maymon R, Norton M, Odibo A, Schielen P, Spencer K, Huang T, Wright D, Yaron Y. Position Statement from the Chromosome Abnormality Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis. 2014;
  9. 9.
    Chitty L, Cameron L, Daley R, Fisher J, Hill M, Jenkins L, Kroese M, McEwan A, McKay F, Morris S, Verhoef T, Wright D. RAPID non-invasive prenatal testing (NIPT) evaluation study: a report for the UK National Screening Committee (Executive Summary). 2015.Google Scholar
  10. 10.
    Jamar M, Lemarchal C, Lemaire V, Koulischer L, Bours V. A low rate of trisomy 21 in twin pregnancies: a cytogenetics retrospective study of 278 cases. Genet Couns. 2003;14:395–400.PubMedGoogle Scholar
  11. 11.
    Boyle B, Morris J, McConkey R, Garne E, Loane M, Addor M, Gatt M, Haeusler M, Latos-Bielenska A, Lelong N, et al. Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe; implications for prenatal screening. BJOG. 2014;121:809–19.CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Prats P, Rodriguez I, Comas C, Puerto B. First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers. Prenat Diagn. 2012;32:927–32.CrossRefPubMedGoogle Scholar
  13. 13.
    Spencer K, Kagan K, Nicolaides K. 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;28:49–52.CrossRefPubMedGoogle Scholar
  14. 14.
    Prats P, Rodriguez I, Comas C, Puerto B. Systematic review of screening for T21 in twin pregnancies in 1st trimester combining NT and biochemical markers: a meta-analysis. Prenat Diagn. 2014;34:1077–83.CrossRefPubMedGoogle Scholar
  15. 15.
    Spencer K, Staboulidou I, Nicolaides KH. First trimester aneuploidy screening in the presence of a vanishing twin: implications for maternal serum markers. Prenat Diagn. 2010;30:235–40.CrossRefPubMedGoogle Scholar
  16. 16.
    Lewi L, Blickstein I, Van Schoubroeck D, Gloning KP, Casteels M, Brandenburg H, Fryns JP, Deprest J. Diagnosis and management of heterokaryotypic monochorionic twins. Am J Med Genet. 2006;140:272–5.CrossRefPubMedGoogle Scholar
  17. 17.
    Agarwal K, Alfirevic Z. Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies. a systematic review. Ultrasound Obstet Gynecol. 2012;40:128–34.CrossRefPubMedGoogle Scholar
  18. 18.
    Monni G, Iuculano A, Zoppi M. Screening and invasive testing in twins. J Clin Med. 2014;3:865–82.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Gjerris AC, Loft A, Pinborg A, Christiansen M, Tabor A. Prenatal testing amongst women pregnant after assisted reproductive techniques in Denmark 1995-2000: a national cohort study. Hum Reprod. 2008;23:1545–52.CrossRefPubMedGoogle Scholar
  20. 20.
    Abu-Musa AA, Nassar AH, Usta IM. Attitude of women with IVF and spontaneous pregnancies towards prenatal screening. Hum Reprod. 2008;23:2438–43.CrossRefPubMedGoogle Scholar
  21. 21.
    Tul N, Novak-Antolic Z. Serum PAPP-A levels at 10-14 weeks of gestation are altered in women after assisted conception. Prenat Diagn. 2006;26:1206–11.CrossRefPubMedGoogle Scholar
  22. 22.
    Gjerris AC, Tabor A, Loft A, Christiansen M, Pinborg A. First trimester prenatal screening among women pregnant after IVF/ICSI. Hum Repro Update. 2012;18:350–9.CrossRefGoogle Scholar
  23. 23.
    Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D. Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group. N Engl J Med. 1993;329:821–7.CrossRefPubMedGoogle Scholar
  24. 24.
    Saari Kemppainen A, Karjalainen O, Ylostalo P, Heinonen OP. Ultrasound screening and perinatal mortality: controlled trial of systematic one-stage screening in pregnancy. The Helsinki Ultrasound Trial. Lancet. 1990;336:387–91.CrossRefPubMedGoogle Scholar
  25. 25.
    Leivo T, Tuominen R, Saari-Kemppainen A, Ylostalo P, Karjalainen O, Heinonen OP. Cost-effectiveness of one-stage ultrasound screening in pregnancy: a report from the Helsinki ultrasound trial. Ultrasound Obstet Gynecol. 1996;7:309–14.CrossRefPubMedGoogle Scholar
  26. 26.
    Roberts T, Henderson J, Mugford M, Bricker L, Neilson J, Garcia J. Antenatal ultrasound screening for fetal abnormalities: a systematic review of studies of cost and cost effectiveness. BJOG. 2002;109:44–56.CrossRefPubMedGoogle Scholar
  27. 27.
    Betremieux P, Gaillot T, de la Pintiere A, Beuchee A, Pasquier L, Habonimana E, Le Bouar G, Branger B, Milon J, Fremond B, Wodey E, Odent S, Poulain P, Pladys P. Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study. Prenat Diagn. 2004;24:487–93.CrossRefPubMedGoogle Scholar
  28. 28.
    Kirwan D. NHS Fetal Anomaly Screening programme. 18+0 to 20+6 weeks fetal anomaly scan. National Standards and Guidance for England. 2010.
  29. 29.
    Salomon LJ, Alfirevic Z, Berghella C, Bilardo C, Hernandez-Andrade E, Johnsen SL, Kalache K, Leung KY, Malinger G, Munoz H, Prefumo F, Toi A. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2011;37(1):116–26.CrossRefPubMedGoogle Scholar
  30. 30.
    Williams C, Sutcliffe A, Sebire NJ. Congenital malformations after assisted reproduction: risks and implications for prenatal diagnosis and fetal medicine. Ultrasound Obstet Gynecol. 2010;35:255–9.CrossRefPubMedGoogle Scholar
  31. 31.
    Rimm AA, Katayama AC, Diaz M, Katayama KP. A meta-analysis of controlled studies comparing major malformation rates in IVF and ICSI infants with naturally conceived children. J Assist Reprod Genet. 2004;21:437–43.CrossRefPubMedPubMedCentralGoogle Scholar
  32. 32.
    Hansen M, Bower C, Milne E, de Klerk N, Kurinczuk JJ. Assisted reproductive technologies and the risk of birth defects – a systematic review. Hum Reprod. 2005;20:328–38.CrossRefPubMedGoogle Scholar
  33. 33.
    Pandey S, Shetty A, Hamilton M, Bhattacharya S, Maheshwari A. Obstetric and perinatal outcomes in singleton pregnancies resulting from IVF/ICSI: a systematic review and meta-analysis. Hum Repro Update. 2012;18:485–503.CrossRefGoogle Scholar
  34. 34.
    Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Calyton-Smith J, Brueton LA, Bannister W, Maher ER. Assisted reproductive therapies and imprinting disorders – a preliminary British survey. Hum Reprod. 2006;21:1009–11.CrossRefPubMedGoogle Scholar
  35. 35.
    Zhu JL, Basso O, Obel C, Bille C, Olsen J. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort. BMJ. 2006;333:679–81.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing Switzerland 2017

Authors and Affiliations

  1. 1.Department of Obstetrics and Gynaecology (Queens Medical Centre Campus)Nottingham University Hospitals NHS TrustNottinghamUK

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