Donald School Journal of Ultrasound in Obstetrics and Gynecology

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VOLUME 2 , ISSUE 1 ( January-March, 2008 ) > List of Articles


Screening for Fetal Malformations

M Theodora, A Antsaklis, G Daskalakis

Keywords : Fetal malformation,screening,ultrasound

Citation Information : Theodora M, Antsaklis A, Daskalakis G. Screening for Fetal Malformations. Donald School J Ultrasound Obstet Gynecol 2008; 2 (1):6-15.

DOI: 10.5005/jp-journals-10009-1045

License: CC BY-NC 4.0

Published Online: 01-03-2009

Copyright Statement:  Copyright © 2008; The Author(s).


Even though the issue of routine sonography for low-risk pregnant women continues to be controversial mainly because randomized trials have failed to demonstrate clear benefit on pregnancy outcome, detection of different fetal malformations seems be one of the main indications for performing scans in pregnancy. Due to progress made in ultrasound technology and the experience of sonographers it is feasible to diagnose congenital anomalies as early as the end of the first trimester. Nevertheless most targeted studies are performed at 18 to 20 weeks of gestation. The highest rates of detection of congenital anomalies are seen in tertiary care settings such as a university medical center. In high-risk cases a consulting perinatologist is commonly the physician most likely to integrate the ultrasound findings.

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  1. Ultrasound in the diagnosis of congenital anomalies, 1979.
  2. Ultrasound in prenatal diagnosis: Polemics around routine ultrasound screening for second trimester fetal malformations. Prenat Diagn 2002;22:285-95.
  3. RADIUS Study group. A randomized trial of prenatal ultrasonographic screening: impact on the detection, management, and outcome of anomalous fetus. Am J Obstet Gynecol 1994;171:392-99.
  4. Effect of prenatal ultrasound screening in perinatal outcome. N Engl J Med 1993;329:821-27.
  5. Surveillance of congenital anomalies in Europe 1980-1999: Report 8. EUROCAT central registry, University of Ulster, Northern Ireland BT370QB. 2003.
  6. The performance of routine ultrasonographic screening of pregnancies in the Eurofetus study. Am J Obstet Gynecol 1999;181:446-54.
  7. Multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Lancet 1998;352:343-46.
  8. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks gestation. Ultrasound Obstet Gynecol 1998;11:391-400.
  9. Fetal cardiac defects and increased nuchal translucency thickness. Am J Obstet Gynecol 2004;191:1486-90.
  10. Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: A feasibility study. American Journal of Obstetrics and Gynecology 2005;193,1260-65.
  11. Assessment of fetal anatomy at the 11 to 14 week ultrasound examination. Ultrasound Obstet Gynecol 2004;24:730-34.
  12. Screening for major structural abnormalities at the 11 to 14 week ultrasound scan. Am J Obstet Gyn 2006;194:393-96.
  13. Congenital heart abnormalities and cardiac dysfunction: How prenatal diagnosis changed the chances for survival. Orv Hetil 140:815-18.
  14. Detection and assessment of pyelectasis in the fetus: Relationship to postnatal renal function. Obstet Gynecol 1998;92:226-31.
  15. Routine ultrasound in low-risk pregnancies. Int J Gynecol Obstet 1997;59:273-78.
  16. American Institute of Ultrasound in Medicine. Guidelines for the performance of the antepartum obstetrical examination, 1994.
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