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Contact EHDI
Early Hearing Detection and Intervention Program
Provider Page
  *** For information regarding a new law concerning cytomegalovirus (CMV), which takes effect on January 1, 2016, please click: CT EHDI CMV.***

Welcome to the CT EHDI Program Provider Page. This page is geared toward healthcare providers, birth facilities, nurse midwives, audiologists, otolaryngologists, primary care providers, Medical Home Initiative for Children and Youth with Special Healthcare Needs networks, community-based screening programs, and early intervention providers, who work with infants or children who are deaf or hard of hearing.


This page includes links to EHDI Program information, reporting forms, and other educational resources.


Provider Page Table of Contents:

CT EHDI Guidelines    

CT EHDI Legislation

EHDI Forms


Position Statements


Genetics Information

Links, Resources, and Forms  (directs to another page) 




NEW - On January 1, 2016, Public Act Number 15-10 takes effect amending existing newborn screening requirements by mandating that infants whom fail a newborn hearing screening also be screened for cytomegalovirus (CMV), as soon after birth as is medically appropriate.  This law also requires each institution caring for newborns (e.g. birthing facilities) to report any cases of CMV to the Department of Public Health. For more information, please click: CT EHDI CMV.


**Please note: Hospitals will be responsible for arranging CMV testing at a qualified laboratory.  At this time, specimens for CMV testing may not be sent to the State Public Health Laboratory.**  


Connecticut General Statutes, Section 19a-59:


Program to identify newborn infants at high risk for hearing impairments.

(a) Each institution, as defined in section 19a-490, that provides childbirth service shall, not later than July 1, 2000, include a universal newborn hearing screening program as part of its standard of care and shall establish a mechanism for compliance review. The provisions of this subsection shall not apply to any infant whose responsible party objects to hearing screening as being in conflict with their religious tenets and practice.

(b) The Department of Public Health shall establish a plan to implement and operate a program of early identification of infant hearing impairment. The purpose of such plan shall be to: (1) identify infants at high risk of having hearing impairments; (2) notify responsible party of such infants of the risk; (3) inform responsible party of resources available to them for further testing and treatment, including rehabilitation services for such infants, and (4) inform responsible party of financial assistance available through the Department of Public Health, including, but not limited to, parental eligibility criteria, which may result in reduced cost or no cost to responsible party for testing, evaluation or treatment, including rehabilitation of such infants. The DPH shall develop such plan in consultation with persons including, but not limited to, pediatricians, otolaryngologists, audiologists, educators and responsible party of deaf and hearing-impaired children.

The Commissioner of Public Health shall adopt regulations, in accordance with Chapter 54, to implement the provisions of subsection (a) of this section.

  • NEW - "Your Baby Needs Another Hearing Test \ About Cytomegalovirus".  This brochure replaces "A Parent's Guide to Diagnostic Hearing Testing of Infants". In addition to hearing screening information, this brochure also covers CMV testing. It is still intended to be disseminated to the parents of children who did not pass their newborn hearing screening tests, as well as to also explain CMV testing.  Also, please note that in order to combine two different topics - Hearing screening and CMV - into one brochure, we opted to print the hearing screening section and CMV section in opposing formats to allow the reader to differentiate between the two topics. This brochure is meant to be printed and folded in half, then folded in half again, not read on screen. We are working on a screen-friendly version and will post it here once complete. The Spanish version is in the process of being translated.  

A genetic evaluation can assist in identifying the etiology (causes or origins) of a hearing loss when physical and laboratory assessments fail to do so.

It is the geneticist who provides the diagnosis of inherited diseases. The medical geneticist is responsible for evaluating and interpreting:

  • The comprehensive family history data (three to four generations) with attention to consanguinity, paternity, and hearing status of the parents and siblings;

  • The inheritance patterns of the hearing loss (autosomal dominant, autosomal recessive, X-linked, or mitochondrial);

  • Country of origin;

  • Audiometric characteristics of any family members with hearing loss such as age at onset, progression and type.

As part of the evaluation the geneticist conducts a clinical evaluation paying particular attention to visual, facial, endocrine, cardiac, renal or integumentary changes that may be associated with a syndromic type of hearing loss.

The geneticist also orders and interprets the genetic tests. GJB2 or Connexin 26 mutation screening should be obtained by sequence analysis. A negative test does not rule out a genetic etiology, but a positive test confirms the cause and eliminates the need for further expensive and possibly more invasive tests.

Genetic counseling should be conducted by trained professionals who are sensitive to the ethical, cultural and socioeconomic status of the family. The overall purpose of the counseling is to assure that the family understands the results of the testing. Based on the outcome of the comprehensive evaluation other types of professionals may be consulted, especially in syndromic hearing loss.


Genetic Treatment Centers in Connecticut
University of Connecticut
Division of Human Genetics
65 Kane Street
West Hartford, CT 06119
Telephone: (860) 523-6499
Fax: (860) 523-6465
Yale University School of Medicine
Department of Human Genetics
333 Cedar Street
Room WWW305
New Haven, CT 06520
Telephone: (203) 785-2660
Fax: (203) 785-3404


Modes of Inheritance

There are varying ways that genes that cause congenital hearing loss can be inherited. Determination of the mode of inheritance is a critical factor in the genetic counseling that is provided to the family.

Profound congenital hearing loss is estimated to occur in about 1 in 1,000 births. Approximately 50% of the cases are thought to be due to environmental factors and the remainder to genetic causes (American College of Medical Genetics (ACMG), 2002)

Non-syndromic Inheritance Patterns

Approximately 70% of the congenital hearing loss cases associated with genetic factors are classified as non-syndromic. Non-syndromic hearing loss is not associated with a syndrome and may be caused by a single gene mutation. These conditions are usually inherited in one of several straightforward patterns and are subdivided by the mode of inheritance (ACMG, 2002).

Syndromic Inheritance Patterns

The remaining 30% of congenital cases associated with genetic factors are syndromic, where deafness can be diagnosed because of associated clinical findings (Gorlin, Toriello, Cohen, 1995). The auditory pathology varies widely among the more than 400 types of syndromic hearing loss and includes both conductive and sensorineural deficits that can be unilateral or bilateral, progressive or stable, or symmetrical or asymmetrical (Resendes, Williamson, Morton, 2001).

The following are examples of some of the more common syndromes associated with syndromic hearing loss as well as links to information on the National Organization of Rare Diseases (NORD) website:

Alport Syndrome

Branchial-Oto-Renal (BOR) Syndrome

Jervell and Lange-Nielsen Syndrome

Norrie Syndrome/Disease

Usher Syndrome

Waardenburg Syndrome


Family Genetics Screening Brochure: English and Español

American College of Medical Genetics. (2002). “Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss”, 4(3), 1-12.

Gorlin RJ, Toriello HV, Cohen MM. Hereditary hearing loss and its syndromes. New York: Oxford University Press, 1995.

Resendes, BL, Williamson RE, Morton CC. (2001). At the Speed of Sound: Gene Discovery in the Auditory Nervous System, American Journal of Human Genetics, 60: 923-935.