Recent developments in early pregnancy screening: are we getting closer to the Holy Grail?

Stefan C Kane, Fabricio Da Silva Costa and Shaun P Brennecke
Med J Aust 2014; 200 (3): . || doi: 10.5694/mja13.10955
Published online: 17 February 2014

Recent developments in first-trimester testing promise great improvements in predicting adverse pregnancy outcomes

Traditionally, expectant mothers have had their pregnancies predictively categorised as low risk or high risk, depending on the perceived probability of an adverse maternal or neonatal outcome. Although appealing in its dichotomous simplicity, such a categorisation does not reflect the spectrum of risk that exists for all pregnant women, nor does it acknowledge significant limitations that have, until recently, precluded the accurate prediction of obstetric risk, particularly among women who have never previously given birth. For example, an algorithm for the prediction of pre-eclampsia among women in their first pregnancy, based on maternal risk factors alone, yields only a 37% detection rate for a 10% false-positive rate.1 However, just as screening for fetal aneuploidy has evolved from using maternal age alone to using non-invasive prenatal testing of cell-free fetal DNA in maternal serum, so too has first-trimester testing been refined to permit, with significantly improved efficacy, the early prediction of other important obstetric concerns, such as fetal growth restriction and pre-eclampsia. With these developments, we are on the cusp of a new era in antenatal care, in which common and important pregnancy outcomes can be more reliably predicted from an early gestation, thereby promising improved triaging of patients, the institution of targeted surveillance and prophylactic therapies, and recruitment of a truly high-risk population to clinical research trials.

  • 1 Department of Perinatal Medicine, Royal Women’s Hospital, Melbourne, VIC.
  • 2 Department of Obstetrics and Gynaecology, University of Melbourne, Melbourne, VIC.

Competing interests:

No relevant disclosures.

  • 1. North RA, McCowan LM, Dekker GA, et al. Clinical risk prediction for pre-eclampsia in nulliparous women: development of model in international prospective cohort. BMJ 2011; 342: d1875.
  • 2. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31: 7-15.
  • 3. O’Leary P, Breheny N, Reid G, et al. Regional variations in prenatal screening across Australia: stepping towards a national policy framework. Aust N Z J Obstet Gynaecol 2006; 46: 427-432.
  • 4. Morain S, Greene MF, Mello MM. A new era in noninvasive prenatal testing. N Engl J Med 2013; 369: 499-501.
  • 5. Yu SC, Jiang P, Choy KW, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLOS ONE 2013; 8: e60968.
  • 6. Hui L, Hyett J. Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia. Aust N Z J Obstet Gynaecol 2013; 53: 416-424.
  • 7. Dugoff L, Hobbins JC, Malone FD, et al. First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: a population-based screening study (the FASTER Trial). Am J Obstet Gynecol 2004; 191: 1446-1451.
  • 8. Poon LC, Kametas NA, Maiz N, et al. First-trimester prediction of hypertensive disorders in pregnancy. Hypertension 2009; 53: 812-818.
  • 9. Park FJ, Leung CH, Poon LC, et al. Clinical evaluation of a first trimester algorithm predicting the risk of hypertensive disease of pregnancy. Aust N Z J Obstet Gynaecol 2013 Dec; 53(6): 532-539.
  • 10. Schneuer FJ, Nassar N, Guilbert C et al. First trimester screening of serum soluble fms-like tyrosine kinase-1 and placental growth factor predicting hypertensive disorders of pregnancy. Pregnancy Hypertens 2013; 3: 215-221.
  • 11. Nicolaides KH. Turning the pyramid of prenatal care. Fetal Diagn Ther 2011; 29: 183-196.
  • 12. Greco E, Gupta R, Syngelaki A, et al. First-trimester screening for spontaneous preterm delivery with maternal characteristics and cervical length. Fetal Diagn Ther 2012; 31: 154-161.
  • 13. Nanda S, Savvidou M, Syngelaki A, et al. Prediction of gestational diabetes mellitus by maternal factors and biomarkers at 11 to 13 weeks. Prenat Diagn 2011; 31: 135-141.
  • 14. Karagiannis G, Akolekar R, Sarquis R, et al. Prediction of small-for-gestation neonates from biophysical and biochemical markers at 11-13 weeks. Fetal Diagn Ther 2011; 29: 148-154.
  • 15. Wilson JMG, Jungner G. Principles and practice of screening for disease. Public health papers no. 34. Geneva: World Health Organization, 1968. (accessed Nov 2013).


remove_circle_outline Delete Author
add_circle_outline Add Author

Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article

Online responses are no longer available. Please refer to our instructions for authors page for more information.