[Chromosome 22 (22q.11.2) deletion. Etiology of conotruncal heart abnormalities]. / Deleción en el cromosoma 22 (22q.11.2). Etiología de cardiopatías congénitas troncoconales.

Important advances in the diagnosis and treatment of congenital heart disease (CHD) have been made in the past 50 years. Nowadays echocardiogram plays an important role in the diagnosis. This procedure is able to identify a wide range of malformations. Cardiac catheterization is mainly a therapeutic tool, surgery is now performed much earlier because CHDS are diagnosed sometimes before birth or very early in life. All this advances in the diagnosis and treatment of this group of patients, allows them not only a better quality of life but also the possibility of reaching adulthood and having children. The study of the etiology of CHD is a field that has not evolved as fast as the assessment and treatment. Nowadays we have a larger population of adults with CHD. The discovery of a microdeletion of chromosome 22 q11.2 associated with conotruncal cardiac defects, proves a common etiology for clinical phenotypes and conotruncal malformations. In order to identify, which of these patients share the same etiology and presented with this syndrome, we collected a group that shared not only heart defects of the conotruncal type but also specific phenotypic alterations such as broad nasal bridge, nasal dimple, high palate, and digitalization of the first finger among others. The first two patients studied with FISH technique were positive to monosomy of a locus on chromosome 22. Those patients with CHD of conotruncal type should undergo microdeletion testing so genetic counseling can be offered as well as appropriate treatment in areas such as cardiology and developmental psychology.

The effects of first-trimester diabetes control on the incidence of macrosomia.

OBJECTIVE: The aim of this study was to explore the association between glycosylated hemoglobin concentrations during pregnancy and macrosomia. STUDY DESIGN: One hundred thirty-six pregnancies in 120 women with type 1 or type 2 diabetes were studied longitudinally between January 1, 1991, and December 31, 1996. Glycosylated hemoglobin concentration and several maternal variables of mothers of neonates who were large for gestational age were compared with those of neonates who were appropriate for gestational age. Receiver-operator characteristic curves and regression analyses were used to determine a threshold related to macrosomia and to assess its predictive value. RESULTS: Glycosylated hemoglobin concentrations throughout pregnancy were higher in mothers of neonates who were large for gestational age (n = 65) than in mothers of neonates who were appropriate for gestational age (n = 71, P <. 001). A first-trimester glycosylated hemoglobin concentration of >/=5.5% (3 SD above the normal mean) was established by receiver-operator characteristic curves as the strongest predictor of macrosomia and yielded an odds ratio of 24 in multiple logistic regression analysis. CONCLUSION: Macrosomia is determined mainly by first-trimester diabetes control.