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 u nder 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' gest ation presenting with congenital cardiac defects of DiGeorge syndrome type and hypocalcaemia at birth. The neonate was also diagnosed as car rying the 22q11 microdeletion. When nuchal translucency measurement is increased, CATCH 22 spectrum of malformations should be considered an d therefore a thorough karyotype analysis should be performed to exclu de microdeletion of chromosome 22. (C) 1998 John Wiley & Sons, Ltd.