ABSTRACT
In this chapter, a limited number of chromosomal and non-chromosomal syndromic conditions will be described. There are two criteria used to define what disorders should appear in this section of the book: the first is that all syndromes described here should be reliably diagnosable by ultrasound, on the basis of a cluster of major and minor sonographic signs; the second is the availability of both sonographic and postmortem pictures needed to comprehensively describe the syndrome. This chapter does not claim to compete with more comprehensive
textbooks and manuals of prenatal ultrasound diagnosis, fetal dysmorphology, or genetics, to which the reader may wish to refer for extensive treatment. The real aim of this chapter is to provide the reader with support in his or her daily practice by reviewing, with ample use of images, the most common chromosomal anomalies and some of the rare non-chromosomal syndromes that may be diagnosable by every professional involved in the field of prenatal ultrasound diagnosis of congenital anomalies with a little dedication and understanding.
