Increased nuchal translucency and CATCH 22.

Recent developments in cytogenetics has shown that 22q11 microdeletion is related to a broad spectrum of malformations which are described under the acronym CATCH 22 (Cardiac, Abnormal faces, Thymic hypoplasia, Cleft palate, Hypocalcaemia and 22 chromosome deletion). We describe a case of a fetus with increased nuchal translucency at 12 weeks' gestation presenting with congenital cardiac defects of DiGeorge syndrome type and hypocalcaemia at birth. The neonate was also diagnosed as carrying the 22q11 microdeletion. When nuchal translucency measurement is increased, CATCH 22 spectrum of malformations should be considered and therefore a thorough karyotype analysis should be performed to exclude microdeletion of chromosome 22.