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| |  Infants With Congenital Heart Disease Benefit From Routine Genetic Testing, Ultrasound: Presented at AAP By Crina Frincu-Mallos, PhD WASHINGTON, DC -- October 19, 2009 -- Routine screening, involving genetic testing as well as renal and head ultrasound, can reduce morbidity and mortality in neonates with critical congenital heart disease, according to preliminary results of a study reported here on October 16 at the 2009 American Academy of Pediatrics (AAP) National Conference & Exhibition. Furthermore, early diagnosis of renal and chromosomal abnormalities can lead to preventive interventions that can improve short- as well as long-term organ function, according to Constantinos Chrysostomou, MD, Pediatrics & Critical Care Medicine, Children’s Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania. In patients with critical congenital heart disease, extracardiac abnormalities, such as chromosomal, cerebral, and renal abnormalities, can be associated with increased morbidity and perhaps mortality if not diagnosed early. The researchers evaluated the charts of 64 neonates admitted to the cardiac intensive care unit (ICU), their goal being to determine if routine evaluation with genetic testing, renal, and head ultrasound is warranted. Among the cardiac abnormalities diagnosed in the neonates were atrial and ventricular septal defect (n = 6), aortic arch abnormalities (n = 11), dextro (or complete) transposition of the great arteries (n = 10), hypoplastic left-heart syndrome (n = 13), tetralogy of Fallot (n = 13), and other (n = 11). Neonates with congenital heart disease admitted to the ICU had a mean age of 1 day and a gestational age of 37 weeks. A total of 55 (86%) underwent genetic testing, with 10 having chromosomal abnormalities, such as Turner syndrome, said Dr. Chrysostomou. Furthermore, 91% of the neonates (n = 58) had renal ultrasounds revealing renal abnormalities, such as pelviectasia, hydronephrosis, hypoplasia, solitary cyst, or nephrocalcinosis in 22% of patients. A total of 55 neonates (86%) had head ultrasounds allowing for diagnosis of periventricular cyst, intraventricular haemorrhage, hydrocephalus, increased extra-axial fluid, or cerebral oedema in 9 patients. The investigators noted that 3 patients with chromosomal abnormalities also presented renal abnormalities. Dr. Chrysostomou reported that the cerebral abnormalities revealed by the head ultrasound tests influenced the treating physician’s decision, prompting them to delay certain procedures. For instance, surgical repair needing cardiopulmonary bypass was delayed in 5 patients due to intraventricular haemorrhage and cerebral oedema, explained Dr. Chrysostomou. “Though some renal abnormalities were significant, a comparison of the peak postoperative creatinine level between patients with renal abnormalities versus those with normal renal ultrasounds showed no statistically significant difference,” said Dr. Chrysostomou, referring to creatinine levels of 0.9 +- 0.4 versus 0.8 +- 0.4 (P = .4). [Presentation title: Neonates With Critical Congenital Heart Disease: Is Routine Screening With Genetic Studies, Renal, and Head Ultrasound Warranted? Preliminary Results. Abstract 6931]
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