The second trimester genetic sonogram

Authors

  • Fionnuala M. Breathnach,

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    • Fionnuala M. Breathnach is a Clinical Lecturer and Research Fellow working in the Department of Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, based at the Rotunda Hospital in Dublin. Her clinical research areas of interest include prenatal diagnosis, multiple gestation, and thyroid disorders in pregnancy.

  • Ann Fleming,

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    • Ann Fleming is a midwife sonographer working in the Fetal Medicine service based at the Rotunda hospital. Her clinical research covers first and second trimester screening for aneuploidy.

  • Fergal D. Malone M.D.

    Corresponding author
    • Department of Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Rotunda Hospital, Parnell Square, Dublin 1, Ireland.
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    • Fergal D. Malone is Professor and Chairman of the Department of Obstetrics and Gynaecology at the Royal College of Surgeons in Ireland, based at the Rotunda Hospital. While based at Columbia University, New York, he directed the NIH FASTER trial (First and Second Trimester Evaluation of Risk). Other research areas of interest include multiple gestations and fetal growth restriction.


  • How to cite this article: Breathnach FM, Fleming A, Malone FD. 2006. The second trimester genetic sonogram. Am J Med Genet Part C Semin Med Genet 145C:62–72.

Abstract

The genetic sonogram, a fetal anatomic survey targeted at identifying features associated with aneuploidy, is carried out between 15 and 20 weeks' gestation. It has evolved as an adjunctive screening tool capable of further refining the individualized risk-calculation for trisomy that is based on maternal age or serum screening markers. The significance of a range of major structural anomalies and so-called “soft-markers” for trisomy, detected both in isolation and in combination, has been widely investigated. This review serves to describe the key components of the second trimester genetic sonogram and to illustrate how these markers are integrated into risk assessment for aneuploidy. © 2007 Wiley-Liss, Inc.

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