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CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder.First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart defects, atresia of the nasal choanae, restricted growth or development, genital or urinary abnormalities, and ear abnormalities and deafness. [1]
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Universal neonatal hearing screening (UNHS), which is part of early hearing detection and intervention (EHDI) programmes, refer to those services aimed at screening hearing of all newborns, regardless of the presence of a risk factor for hearing loss. UNHS is the first step in the EHDI program which indicates whether a newborn requires further ...
Even if further studies confirm that metabolic abnormalities are a risk factor, the challenge is what to do if they appear on a baby’s newborn screening results. For the most part, SIDS is hard ...
Congenital conductive hearing loss is identified through newborn hearing screening or may be identified because the baby has microtia or other facial abnormalities. Conductive hearing loss developing during childhood is usually due to otitis media with effusion and may present with speech and language delay or difficulty hearing.
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
Pendred syndrome; Other names: Goiter-deafness syndrome [1]: The normal cochlea has 2 & a half turns, but, in Pendred Syndrome, there is abnormal partitioning (the central bony core is reduced in size and complexity)and a reduced number of turns leading to a Mondini cochlea which has a basal turn and a dilated apical turn (1 & a half turns).