The second trimester genetic sonogram.
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.
Breathnach
Fionnuala M
FM
Department of Obstetrics and Gynaecology, Royal College of Surgeons in Ireland, Rotunda Hospital, Dublin, Ireland.
Fleming
Ann
A
Malone
Fergal D
FD
D000782:Aneuploidy; D015415:Biomarkers / Q000032:analysis; D005260:Female; D005333:Fetus / Q000002:abnormalities; D005820:Genetic Testing; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012307:Risk Factors; D016216:Ultrasonography, Prenatal
D015415:Biomarkers