Jiri D. Sonek, MD RDMS specializes in Maternal-Fetal Medicine and Ultrasound in Obstetrics, Gynecology, and Neonatology. He is a Clinical Professor at Wright State University and is the Medical Director of Maternal-Fetal Medicine, Ultrasound, and Genetics Center at the Miami Valley Hospital in Dayton, Ohio. He is also the President of the Fetal Medicine Foundation/USA. His research focuses on prenatal screening and diagnosis of fetal anomalies.
First trimester ultrasonography in screening and detection of fetal anomalies†
Article first published online: 15 FEB 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Prenatal Screening and Diagnosis
Volume 145C, Issue 1, pages 45–61, 15 February 2007
How to Cite
Sonek, J. (2007), First trimester ultrasonography in screening and detection of fetal anomalies. Am. J. Med. Genet., 145C: 45–61. doi: 10.1002/ajmg.c.30120
How to cite this article: Sonek J. 2007. First trimester ultrasonography in screening and detection of fetal anomalies. Am J Med Genet Part C Semin Med Genet 145C:45–61.
- Issue published online: 21 FEB 2007
- Article first published online: 15 FEB 2007
- first trimester obstetrical ultrasound;
- fetal markers;
- fetal anomalies
An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11–13 + 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up. © 2007 Wiley-Liss, Inc.