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Prenatal diagnosis of 22q11 microdeletion in an early second‐trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci
Author(s) -
Machlitt A.,
Tennstedt C.,
Körner H.,
Bommer C.,
Chaoui R.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00688.x
Subject(s) - medicine , intracardiac injection , hydrops fetalis , truncus arteriosus , fetus , fetal echocardiography , echogenicity , prenatal diagnosis , ventricular outflow tract obstruction , aortic arch , radiology , cardiology , pregnancy , heart disease , aorta , ultrasonography , tetralogy of fallot , biology , hypertrophic cardiomyopathy , genetics
We report on a 16‐week fetus, in which detection of increased nuchal translucency thickness and bilateral intracardiac echogenic foci led to the prenatal diagnosis of truncus arteriosus communis, interruption of the aortic arch and aplastic thymus. Cytogenetic examination confirmed a 22q11.2 microdeletion consistent with the suspected CATCH 22 syndrome. Subsequently hydrops fetalis developed and the fetus died in utero at 18 weeks. This case report supports the hypothesis that both cardiac failure and left ventricular outflow tract obstruction may cause increased nuchal translucency thickness. The association between increased nuchal translucency thickness and CATCH 22 syndrome should be considered in diagnostic procedures. The sonographic diagnosis of both increased nuchal translucency thickness and intracardiac echogenic foci requires specialist ultrasonography and echocardiography. In particular, identification of right‐sided or bilateral echogenic foci should prompt further detailed examination. Copyright © 2002 ISUOG