RESUMEN
The objective of this study was to assess the ability of different parameters to identify fetuses requiring neonatal care for coarctation of the aorta (CoA). Between January 2003 and December 2012, 175 fetuses referred for great vessel disproportion were divided into two groups: group A (n = 51) with high risk of CoA and delivery planned in tertiary care referral center and group B (n = 124) with no increased risk of CoA. In group A, diagnosis of CoA was confirmed in 38/51 (74 %). In group B, 2/124 had CoA. Multiple logistic regression analysis identified the best combination as diffusely hypoplastic and/or angular aortic arches, ventricular septal defect and aortic valve diameter <5 mm at 36-week gestational age (GA). Positive predictive value was 75 % when vessel disproportion was noted before 28-week GA and 73 % in the third trimester. Postnatal diagnosis involved 38 cases of CoA which had not been referred. One case of CoA diagnosed after birth was referred prenatally for difficulty of screening without any defect. The results of our prospective study are in agreement with those of previous series, but our false positive rate was lower especially when the diagnosis of vascular disproportion was made at third trimester. The performance of fetal cardiac screening does not seem to be very good, but prenatal diagnosis is probably not always possible: Among our three false negative cases, two had isolated vascular disproportion and the third no risk factors.
Asunto(s)
Coartación Aórtica/diagnóstico por imagen , Coartación Aórtica/diagnóstico , Feto/anomalías , Edad Gestacional , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos , Aorta/anomalías , Aorta/diagnóstico por imagen , Aorta Torácica/anomalías , Aorta Torácica/diagnóstico por imagen , Coartación Aórtica/epidemiología , Válvula Aórtica/anomalías , Válvula Aórtica/diagnóstico por imagen , Ecocardiografía/instrumentación , Ecocardiografía/métodos , Femenino , Defectos del Tabique Interventricular/diagnóstico , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/epidemiología , Humanos , Valor Predictivo de las Pruebas , Embarazo , Diagnóstico Prenatal/instrumentación , Estudios Prospectivos , Factores de Riesgo , Ultrasonografía Prenatal/instrumentaciónRESUMEN
We report a case of macroamylasemia in an 11-year-old boy. We compare our clinical and paraclinical data with those described in pediatric literature. Macroamylase resulted in a complex of amylase and immuglobulin. Its fortuitous detection did not reveal, up to now, any associated pathology, in particular any autoimmune disorders or celiac disease. Identification of this biochemical abnormality is essential in order to avoid invasive investigations and/or unnecessary therapies.