First trimester malformation screening.

ABSTRACT

First trimester fetal malformation screening still represents a diagnostic challenge in modem obstetrics. Being solely dependent on ultrasound instrumentation, and the skill and experience of the operator, recently improved by introducing high frequency transvaginal approach and digital image processing. This opens a new field of ultrasound in obstetrics called sonoembriology. Until now sonoembriology in routine clinical practice resulted in numerous reports about early detection of rare anomalies and uncommon syndromes. The reported sensitivity of sonoembriology with a respect to a final pregnancy outcome was more than 60% of all malformations in total, while in combination with ultrasound screening in second trimester, increases to in excess of 80%. The commonest anomalies detected by sonoembriology are anomalies of the head and brain, heart, abdominal wall, unbilical cord, urinary tract and skeleton. There is an important role of sonoembriology in the assessment of the nuchal translucency in the screening programme for chromosomal anomalies. This changes the well-known concept "fetus as a patient" to "embryo as a patient" and opens new frontiers in fetal diagnosis and therapy.