Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Gynecology and Obstetrics

Ultrasound screening in the second trimester to identify fetal anomalies has developed and improved remarkably over the last few decades; moreover, it is possible to detect even minor structural abnormalities. Some sonographic findings are structural signs with little or no pathological significance. Such signs, commonly known as 2soft markers,3 are more often found in fetuses with congenital anomalies and are associated with chromosomal abnormalities.This is an Observational prospective cross sectional study preformed on 100 pregnant women from 16-24 weeks of gestation with one sonographic fetal soft marker or moredetected in their mid trimester anomaly scan and followed up till delivery to evaluate the usefulness of each ultrasound soft marker, assess whether a specific soft marker should be looked for routinely on screening ultrasound.Three cases of the studied group were associated with structural fetal anomalies (2 cases of them were associated with echogenic intracardiac foci , pyelectasis and Congenital heart disease and one case was associated with echogenic intracardiac focus , short long bones and omphalocele ), two cases of them were discovered post- natally to be Down syndrome.It is concluded from the study that many soft markers will disappear or regress as gestation proceeds.The persistence or disappearance of a marker does not alter the risk of aneuploidy when it is isolated. But if combined soft markers are detected especially if associated with structural congenital anomaly, karyotyping should be offered for the newborn

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