Prenatal Findings in Cases of Familial and Sporadic 22q11.2 Deletion Syndrome
To date, published information is lacking regarding the prenatal natural history of DiGeorge syndrome/velocardiofacial syndrome. Caused by the deletion of chromosome 22q11.2 in most cases, this syndrome is increasingly detected prenatally with the use of microarrays.
The authors hypothesized that current prenatal screening methods (such as nuchal translucency, maternal serum markers, and ultrasonography) may be useful as prenatal indicators for the early diagnosis of the 22q11.2 deletion syndrome (DS). The goal of this study was to identify characteristic findings, including sonographic abnormalities, in 22q11.2 DS to improve prenatal detection