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Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.

- Genet. Med. (2002 May-Jun)

Bottom Line: The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss.A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss.To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss.

View Article: PubMed Central - PubMed

ABSTRACT
The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.

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Related in: MedlinePlus

“Distribution of causes” for profound hearing loss in infancy. The etiology of lesser degrees of hearing loss in the newborn period is not well understood.
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f1-12180152: “Distribution of causes” for profound hearing loss in infancy. The etiology of lesser degrees of hearing loss in the newborn period is not well understood.

Mentions: Hearing loss is relatively common in the human population. Profound congenital hearing loss is estimated to occur in about 1 in 1000 births; approximately 50% of cases are thought to be due to environmental factors and the remainder to genetic causes1,2 (Fig. 1). Examples of the former include acoustic trauma, ototoxic drug exposure (i.e., aminoglycosides), and bacterial or viral infections such as rubella or cytomegalovirus (CMV). Approximately 70% of congenital cases associated with genetic factors are classified as nonsyndromic (the deafness is not associated with other clinical findings that define a recognized syndrome). In the remaining 30%, one of more than 400 forms of syndromic deafness can be diagnosed because of associated clinical findings.1,3 The auditory pathology varies widely among the many forms of syndromic hearing loss and includes both conductive and sensorineural deficits that may be unilateral or bilateral, symmetrical or asymmetrical, and progressive or stable.4


Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.

- Genet. Med. (2002 May-Jun)

“Distribution of causes” for profound hearing loss in infancy. The etiology of lesser degrees of hearing loss in the newborn period is not well understood.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3110944&req=5

f1-12180152: “Distribution of causes” for profound hearing loss in infancy. The etiology of lesser degrees of hearing loss in the newborn period is not well understood.
Mentions: Hearing loss is relatively common in the human population. Profound congenital hearing loss is estimated to occur in about 1 in 1000 births; approximately 50% of cases are thought to be due to environmental factors and the remainder to genetic causes1,2 (Fig. 1). Examples of the former include acoustic trauma, ototoxic drug exposure (i.e., aminoglycosides), and bacterial or viral infections such as rubella or cytomegalovirus (CMV). Approximately 70% of congenital cases associated with genetic factors are classified as nonsyndromic (the deafness is not associated with other clinical findings that define a recognized syndrome). In the remaining 30%, one of more than 400 forms of syndromic deafness can be diagnosed because of associated clinical findings.1,3 The auditory pathology varies widely among the many forms of syndromic hearing loss and includes both conductive and sensorineural deficits that may be unilateral or bilateral, symmetrical or asymmetrical, and progressive or stable.4

Bottom Line: The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss.A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss.To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss.

View Article: PubMed Central - PubMed

ABSTRACT
The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.

Show MeSH
Related in: MedlinePlus