http://neoreviews.aappublications.org Pediatrics RSS feed -- current issue 1526-9906 Jul 1 2008 12:00:00:000AM NeoReviews http://neoreviews.aappublications.org/icons/banner/title.gif http://neoreviews.aappublications.org http://neoreviews.aappublications.org/cgi/content/full/9/7/e279?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e279 American Academy of Pediatrics 7 9 e281 2008-07-01 e279 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e282?rss=1 Because genetic conditions can alter the health of neonates, it is important for neonatologists to become familiar with the indications for testing and major issues in the interpretation of results. The two primary molecular cytogenetic techniques are fluorescence in situ hybridization and array comparative genomic hybridization, which allow detection of deletions, duplications, and rearrangements of small regions within the chromosome. Direct mutation analysis of DNA can be targeted to a specific variant known to be associated with disease. Epigenetic factors can affect gene expression without altering the genotype. For example, genomic imprinting (differential expression of a gene) causes several genetic disorders. Most molecular genetic testing performed in the newborn nursery is for purposes of diagnosis. Important differences in analytic validity, clinical validity, and clinical utility distinguish genetic testing from more traditional laboratory testing, and the implications of these differences must be considered when ordering such tests.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e282 American Academy of Pediatrics 7 9 e290 2008-07-01 e282 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e291?rss=1 Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant's prognosis. Initial screening tests can provide a general overview of the infant's metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic features, and nonimmune hydrops. Confirmatory testing (enzyme analysis or molecular DNA testing) are required to make the diagnosis. Clinicians should be aware of specific requirements for such testing to obtain the desired results.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e291 American Academy of Pediatrics 7 9 e298 2008-07-01 e291 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e299?rss=1 Neonatologists often care for newborns who have multiple congenital anomalies. The specific diagnosis has implications for the infant's clinical management. In this article, we examine the neonatal presentations of CHARGE syndrome and VATER/VACTERL association. Once the features of these two entities are recognized clinically, the appropriate diagnostic evaluations can be initiated.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e299 American Academy of Pediatrics 7 9 e304 2008-07-01 e299 Articles http://neoreviews.aappublications.org/cgi/content/abstract/9/7/e305?rss=1 Autoimmune thyroid disease is common in pregnancy. Graves disease is present in about 0.2% of pregnancies, and clinical hyperthyroidism occurs in approximately 1% of neonates born to women who have Graves disease. Antibodies to the thyroid-stimulating hormone receptor (TSH-R) (stimulating or blocking) freely cross the placenta and can act in the fetal thyroid gland during the second half of pregnancy. A few cases of fetal hyperthyroidism or hypothyroidism related to maternal TSH-R antibodies (TRAbs) have been reported. Neonatal hyperthyroidism or thyrotoxicosis is usually apparent by 10 days after birth. Such states should be considered emergencies and treated promptly to prevent damage in the newborn.

]]> 2008-07-01 info:doi/10.1542/neo.9-7-e305 American Academy of Pediatrics 7 9 e309 2008-07-01 e305 Articles http://neoreviews.aappublications.org/cgi/content/full/9/7/e310?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e310 American Academy of Pediatrics 7 9 e312 2008-07-01 e310 Articles http://neoreviews.aappublications.org/cgi/content/short/9/7/e313?rss=1 2008-07-01 info:doi/10.1542/neo.9-7-e313 American Academy of Pediatrics 7 9 e313 2008-07-01 e313 Visual Diagnosis