Modelling the cost-effectiveness of a newborn hearing screening programme; usability and pitfalls.

OBJECTIVE: The EUSCREEN project concerns the study of European vision and hearing screening programmes. Part of the project was the development of a cost-effectiveness model to analyse such programmes. We describe the development and usability of an online tool to enable stakeholders to design, analyse or modify a newborn hearing screening (NHS) programme. DESIGN: Data from literature, from existing NHS programmes, and observations by users were used to develop and refine the tool. Required inputs include prevalence of the hearing impairment, test sequence and its timing, attendance, sensitivity, and specificity of each screening step. Outputs include the number of cases detected and the costs of screening and diagnostics. STUDY SAMPLE: Eleven NHS programmes with reliable data. RESULTS: Three analyses are presented, exploring the effect of low attendance, number of screening steps, testing in the maternity ward, or screening at a later age, on the benefits and costs of the programme. Knowledge of the epidemiology of a staged screening programme is crucial when using the tool. CONCLUSIONS: This study presents a tool intended to aid stakeholders to design a new or analyse an existing hearing screening programme in terms of benefits and costs.

Implementation of Newborn Hearing Screening in Albania.

Newborn hearing screening (NHS) was implemented in Albania in four maternity hospitals in 2018 and 2019. Implementation outcome, screening outcome, and screening quality measures were evaluated. Infants were first screened by midwives and nurses before discharge from the maternity hospital and returned for follow-up screening. Acceptability, appropriateness, feasibility, adoption, fidelity, coverage, attendance, and stepwise and final-referral rates were assessed by onsite observations, interviews, questionnaires, and a screening database. A post hoc analysis was performed to identify reasons for loss to follow up (LTFU) in a multivariate logistic regression. In total, 22,818 infants were born, of which 96.6% were screened. For the second screening step, 33.6% of infants were LTFU, 40.4% for the third, and 35.8% for diagnostic assessment. Twenty-two (0.1%) were diagnosed with hearing loss of ≥40 dB, six unilateral. NHS was appropriate and feasible: most infants are born in maternity hospitals, hence nurses and midwives could perform screening, and screening rooms and logistic support were supplied. Adoption among screeners was good. Referral rates decreased steadily, reflecting increasing skill. Occasionally, screening was repeated during a screening step, contrary to the protocol. NHS in Albania was implemented successfully, though LTFU was high. It is important to have effective data tracking and supervision throughout the screening.

Assessment of hearing screening programmes across 47 countries or regions III: provision of childhood hearing screening after the newborn period.

OBJECTIVE: To inventory provision and features of childhood hearing screening after the newborn period (CHS), primarily in Europe. DESIGN: From each participating country or region, experts provided information through an extensive questionnaire: implementation year, age at screening, test method, pass criteria, screening location, screener profession, and quality indicators: coverage, referral, follow-up and detection rates, supplemented by literature sources. STUDY SAMPLE: Forty-two European countries or regions, plus Russia, Malawi, Rwanda, India, and China. RESULTS: CHS was performed universally with pure-tone audiometry screening (PTS) in 17 countries or regions, whereas non-universal CHS was performed in eight with PTS or whisper tests. All participating countries with universal PTS had newborn hearing screening. Coverage rate was provided from three countries, detection rate from one, and referral and follow-up rate from two. In four countries, universal PTS was performed at two ages. Earliest universal PTS was performed in a (pre)school setting by nurses (n = 9, median age: 5 years, range: 3-7), in a healthcare setting by doctors and nurses (n = 7, median age: 4.5 years, range: 4-7), or in both (n = 1). CONCLUSIONS: Within universal CHS, PTS was mostly performed at 4-6 years by nurses. Insufficient collection of data and monitoring with quality indicators impedes evaluation of screening.

Assessment of hearing screening programmes across 47 countries or regions I: provision of newborn hearing screening.

OBJECTIVES: Newborn hearing screening (NHS) varies regarding number and type of tests, location, age, professionals and funding. We compared the provision of existing screening programmes. DESIGN: A questionnaire containing nine domains: demography, administration, existing screening, coverage, tests, diagnosis, treatment, cost and adverse effects, was presented to hearing screening experts. Responses were verified. Clusters were identified based on number of screening steps and use of OAE or aABR, either for all infants or for well and high-risk infants (dual-protocol). STUDY SAMPLE: Fifty-two experts completed the questionnaire sufficiently: 40 European countries, Russia, Malawi, Rwanda, India and China. RESULTS: It took considerable effort to find experts for all countries with sufficient time and knowledge. Data essential for evaluation are often not collected. Infants are first screened in maternity wards in most countries. Human development index and health expenditure were high among countries with dual protocols, three screening steps, including aABR, and low among countries without NHS and countries using OAE for all infants. Nationwide implementation of NHS took 6 years, on average. CONCLUSION: The extent and complexity of NHS programmes are primarily related to health expenditure and HDI. Data collection should be improved to facilitate comparison of NHS programmes across borders.

Assessment of hearing screening programmes across 47 countries or regions II: coverage, referral, follow-up and detection rates from newborn hearing screening.

OBJECTIVES: To assess the performance of newborn hearing screening (NHS) programmes, through selected quality measures and their relationship to protocol design. DESIGN: NHS coverage, referral, follow-up and detection rates were aggregated. Referral rates were compared to age at screening step 1, number of steps, and test method: OAE or aABR. STUDY SAMPLE: A questionnaire on existing hearing screening was completed by experts from countries in Europe, plus Russia, Malawi, Rwanda, India and China. RESULTS: Out of 47 countries or regions, NHS coverage rates were reported from 26, referral rates from 23, follow up from 12 and detection rates from 13. Median coverage rate for step 1 was 96%. Referral rate from step 1 was 6-22% where screening may be performed <24 h from birth, 2-15% for >24 h, and 4% for >72 h. Referral rates to diagnostic assessment averaged 2.1% after one to two steps using OAE only, 1.7% after two steps including aABR, and 0.8% after three to four steps including aABR. Median detection rate for bilateral permanent hearing impairment ≥40dB was 1 per 1000 infants. CONCLUSION: Referral rates were related to age, test method and number of screening steps. Quality measures were not available for many NHS programmes.

Cost-Effectiveness of Neonatal Hearing Screening Programs: A Micro-Simulation Modeling Analysis.

OBJECTIVES: Early detection of neonatal hearing impairment moderates the negative effects on speech and language development. Universal neonatal hearing screening protocols vary in tests used, timing of testing and the number of stages of screening. This study estimated the cost-effectiveness of various protocols in the preparation of implementation of neonatal hearing screening in Albania. DESIGN: A micro-simulation model was developed using input on demography, natural history of neonatal hearing impairment, screening characteristics and treatment. Parameter values were derived from a review of the literature and expert opinion. We simulated multiple protocols using otoacoustic emissions (OAE) and automated auditory brainstem response (aABR), varying the test type, timing and number of stages. Cost-effectiveness was analyzed over a life-time horizon. RESULTS: The two best protocols for well infants were OAE followed by aABR (i.e., two-stage OAE-aABR) testing in the maternity ward and single-aABR testing. Incremental cost-effectiveness ratios were €4181 and €78,077 per quality-adjusted life-year gained, respectively. Single-aABR screening led to more cases being detected compared to a two-stage screening program. However, it also resulted in higher referral rates, which increased the total costs of diagnostics. Multi-staged screening decreased referral rates but may increase the number of missed cases due to false-negative test results and nonattendance. CONCLUSIONS: Only the 2-stage OAE-aABR (maternity ward) protocol was below the willingness-to-pay threshold of €10,413 for Albania, as suggested by the World Health Organization, and was found to be cost-effective. This study is among the few to assess neonatal hearing screening programs over a life-time horizon and the first to predict the cost-effectiveness of multiple screening scenarios.

Prevalence of permanent neonatal hearing impairment: systematic review and Bayesian meta-analysis.

Objective: To investigate the variance in reported prevalence rates of permanent neonatal hearing impairment (HI) worldwide.Design: A systematic review and meta-analysis was performed on reported prevalence rates of sensorineural and permanent conductive or mixed HI worse than 40 dB in neonates, detected as a result of a screening programme or audiometric study.Study sample: For meta-analysis, 35 articles were selected, 25 from high-income countries and 10 from middle-income countries according to the world bank classification system.Results: The prevalence rate of permanent uni- and bilateral HI worse than 40 dB in neonates varied from 1 to 6 per 1000, the overall prevalence was 2.21 per 1000 [1.71, 2.8]. In NICU populations the prevalence rate was higher with a larger fraction of bilateral cases. Although not significant, prevalence rates were slightly higher in Asia compared to Europe and the number of infants lost to follow-up appeared higher in countries with lower gross national income.Conclusion: Substantial variations exist in prevalence rates of neonatal permanent HI across countries and regions. There is a strong need for more data from low-income countries to identify demographic factors that account for this variability in reported prevalence rates. Reporting these data in a uniform way is advocated.

Reliability of the reflux finding score for infants in flexible versus rigid laryngoscopy.

OBJECTIVES: The Reflux Finding Score for Infants (RFS-I) was developed to assess signs of laryngopharyngeal reflux (LPR) in infants. With flexible laryngoscopy, moderate inter- and highly variable intraobserver reliability was found. We hypothesized that the use of rigid laryngoscopy would increase reliability and therefore evaluated the reliability of the RFS-I for flexible versus rigid laryngoscopy in infants. METHODS: We established a set of videos of consecutively performed flexible and rigid laryngoscopies in infants. The RFS-I was scored twice by 4 otorhinolaryngologists, 2 otorhinolaryngology fellows, and 2 inexperienced observers. Cohen's and Fleiss' kappas (k) were calculated for categorical data and the intraclass correlation coefficient (ICC) was calculated for ordinal data. RESULTS: The study set consisted of laryngoscopic videos of 30 infants (median age 7.5 (0-19.8) months). Overall interobserver reliability of the RFS-I was moderate for both flexible (ICC = 0.60, 95% CI 0.44-0.76) and rigid (ICC = 0.42, 95% CI 0.26-0.62) laryngoscopy. There were no significant differences in reliability of overall RFS-I scores and individual RFS-I items for flexible versus rigid laryngoscopy. Intraobserver reliability of the total RFS-I score ranged from fair to excellent for both flexible (ICC = 0.33-0.93) and rigid (ICC = 0.39-0.86) laryngoscopies. Comparing RFS-I results for flexible versus rigid laryngoscopy per observer, reliability ranged from no to substantial (k = -0.16-0.63, mean k = 0.22), with an observed agreement of 0.08-0.35. CONCLUSION: Reliability of the RFS-I was moderate and did not differ between flexible and rigid laryngoscopies. The RFS-I is not suitable to detect signs or to guide treatment of LPR in infants, neither with flexible nor with rigid laryngoscopy.

Robin sequence: A European survey on current practice patterns.

To provide an overview of current practice patterns with regard to Robin sequence (RS) patients in Europe, a survey was conducted among European clinicians. This online survey consisted of different sections assessing characteristics of the respondent and clinic, definition, diagnosis, treatment, and follow-up. In total, surveys from 101 different European clinics were included in the analysis, and 56 different RS definitions were returned. The majority (72%) of the respondents used a sleep study system to determine the severity of the airway obstruction. A total of 63% used flexible endoscopy and 16% used rigid endoscopy in the diagnostic process. Treatment of the airway obstruction differed considerably between the different countries. Prone positioning for mild airway obstruction was the treatment modality used most often (63%). When prone positioning was not successful, a nasopharyngeal airway was used (62%). Surgical therapies varied considerably among countries. For severe obstruction, mandibular distraction was performed most frequently. Three-quarters of the respondents noted the presence of catch-up growth in their patient population. This first European survey study on definition and management of RS shows that there are considerable differences within Europe. Therefore, we would encourage the establishment of national (and international) guidelines to optimize RS patient care.

JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches.

Inventory of current EU paediatric vision and hearing screening programmes.

OBJECTIVE: To examine the diversity in paediatric vision and hearing screening programmes in Europe. METHODS: Themes for comparison of screening programmes derived from literature were used to compile three questionnaires on vision, hearing, and public health screening. Tests used, professions involved, age, and frequency of testing seem to influence sensitivity, specificity, and costs most. Questionnaires were sent to ophthalmologists, orthoptists, otolaryngologists, and audiologists involved in paediatric screening in all EU full-member, candidate, and associate states. Answers were cross-checked. RESULTS: Thirty-nine countries participated; 35 have a vision screening programme, 33 a nation-wide neonatal hearing screening programme. Visual acuity (VA) is measured in 35 countries, in 71% of these more than once. First measurement of VA varies from three to seven years of age, but is usually before age five. At age three and four, picture charts, including Lea Hyvarinen, are used most; in children over four, Tumbling-E and Snellen. As first hearing screening test, otoacoustic emission is used most in healthy neonates, and auditory brainstem response in premature newborns. The majority of hearing testing programmes are staged; children are referred after 1-4 abnormal tests. Vision screening is performed mostly by paediatricians, ophthalmologists, or nurses. Funding is mostly by health insurance or state. Coverage was reported as >95% in half of countries, but reporting was often not first-hand. CONCLUSION: Largest differences were found in VA charts used (12), professions involved in vision screening (10), number of hearing screening tests before referral (1-4), and funding sources (8).

Unravelling Robin sequence: considerations of diagnosis and treatment.

OBJECTIVES/HYPOTHESIS: The airway management of children with Robin sequence is controversial. This study provides an overview of a single-center experience with the diagnosis and treatment of 59 children with Robin sequence. STUDY DESIGN: Retrospective cohort study. METHODS: We conducted a retrospective cohort study of 59 children (<1 year old) with Robin sequence managed between 2000 and 2010. Robin sequence was defined as the presence of mandibular hypoplasia and clinical signs of airway obstruction. Data were collected on demographic characteristics, the presence of a syndrome, the perinatal period, and the management of airway and nutritional problems. RESULTS: Eighteen children (31%) needed respiratory support because of severe respiratory distress, and a sleep study found obstructive apneas in another eight children who had been managed by prone positioning and/or monitoring. In the isolated group significantly fewer children needed respiratory support compared to the nonisolated group. After the age of 1 year, 10% of the Robin sequence cohort was still in need of treatment for obstructive symptoms. Almost half (47%) needed temporary nutritional support. CONCLUSIONS: The prevalence of respiratory distress in children with Robin sequence is high. In most children, treatment with prone positioning was sufficient to relieve the airway obstruction. Successful treatment with prone positioning was significantly more often seen in children with an isolated Robin sequence. About one-third of all Robin sequence children needed respiratory support in the neonatal and/or infant period. However, in childhood, only 10% of the total Robin sequence cohort was still dependent on respiratory support.

How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study.

OBJECTIVE: To describe the course of obstructive sleep apnoea syndrome (OSAS) in children with syndromic craniosynostosis. DESIGN: Prospective cohort study. SETTING: Dutch Craniofacial Centre from January 2007 to January 2012. PATIENTS: A total of 97 children with syndromic craniosynostosis underwent level III sleep study. Patients generally undergo cranial vault remodelling during their first year of life, but OSAS treatment only on indication. MAIN OUTCOME MEASURES: Obstructive apnoea-hypopnoea index, the central apnoea index and haemoglobin oxygenation-desaturation index derived from consecutive sleep studies. RESULTS: The overall prevalence of OSAS in syndromic craniosynostosis was 68% as defined by level III sleep study. Twenty-three patients were treated for OSAS. Longitudinal profiles were computed for 80 untreated patients using 241 sleep studies. A mixed effects model showed higher values for the patients with midface hypoplasia as compared to those without midface hypoplasia (Omnibus likelihood ratio test=7.9). In paired measurements, the obstructive apnoea-hypopnoea index (Z=-3.4) significantly decreased over time, especially in the first years of life (Z=-3.3), but not in patients with midface hypoplasia (Z=-1.5). No patient developed severe OSAS during follow-up if it was not yet diagnosed during the first sleep study. CONCLUSIONS: OSAS is highly prevalent in syndromic craniosynostosis. There is some natural improvement, mainly during the first 3 years of life and least in children with Apert or Crouzon/Pfeiffer syndrome. In the absence of other co-morbid risk factors, it is highly unlikely that if severe OSAS is not present early in life it will develop during childhood. Ongoing clinical surveillance is of great importance and continuous monitoring for the development of other co-morbid risk factors for OSAS should be warranted.

Screening for obstructive sleep apnea in Treacher-Collins syndrome.

OBJECTIVES/HYPOTHESIS: This study evaluated the accuracy of established obstructive sleep apnea syndrome (OSAS) questionnaires based on presenting symptoms and complaints as screening tools for OSAS in Treacher-Collins syndrome (TCS). STUDY DESIGN: Cross-sectional cohort study. METHODS: In 35 TCS patients (13 children, 22 adults) in whom diagnostic polysomnographic results on OSAS were available, the Brouillette score was evaluated in children and the Epworth Sleepiness Scale in adults. RESULTS: The total Brouillette score showed a sensitivity of 50%, specificity of 71%, and positive and negative predictive values of 60% and 63%, respectively. The answer "No" to the question as to whether a child snored could rule out OSAS in children, and showed positive and negative predictive values of 55% and 100%, respectively. The Epworth Sleepiness Scale showed a sensitivity of 0%, specificity of 92%, and positive and negative predictive values of 0% and 57%, respectively. A positive answer to the question of whether a person falls asleep while sitting and talking to someone (sometimes or more) was able to predict OSAS in adults; this question had positive and negative predictive values of 100% and 72%, respectively. CONCLUSIONS: This cross-sectional cohort study showed that the Brouillette score and the Epworth Sleepiness Scale are of minimal usefulness in TCS. Diagnosis of OSAS based solely on complaints is not reliable, probably due to habituation. Therefore, for a good evaluation and optimal multidisciplinary treatment of this chronic disease in TCS, all newly referred pediatric and adult TCS patients should be screened for OSAS at least once with polysomnography.

Auditory brainstem response morphology and analysis in very preterm neonatal intensive care unit infants.

OBJECTIVES/HYPOTHESIS: Analysis of auditory brainstem response (ABR) in very preterm infants can be difficult owing to the poor detectability of the various components of the ABR. We evaluated the ABR morphology and tried to extend the current assessment system. STUDY DESIGN: Prospective cohort study. METHODS: We included 28 preterm very low birth weight infants admitted to the neonatal intensive care unit of Sophia Children's Hospital. ABRs were measured between 26 and 34 weeks postconceptional age. The presence of the following ABR parameters was recorded: the ipsilateral peaks I, III and V, the contralateral peaks III and V, and the response threshold. RESULTS: In 82% of our population, a typical "bow tie" response pattern was present as a sign of early auditory development. This bow tie pattern is the narrowest part of the response wave and is predominantly characterized by the ipsilateral negative peak III. This effect may be emphasized by the contralateral peak III. The bow tie pattern is seen approximately 0.1 milliseconds before the ipsilateral peak III. From 30 weeks postconceptional age onward, a more extensive morphologic pattern is recorded in 90% of the infants. A flow chart was designed to analyze the ABR morphology of preterm infants in an unambiguous stepwise fashion. CONCLUSIONS: A typical bow tie pattern preceding peak III seems to be the earliest characteristic of the developing ABR morphology in preterm infants. As ABR characteristics will improve with increasing age, neonatal hearing screening should be postponed until after 34 weeks.

Inter-observer reliability of localization of recorded stridor sounds in children.

OBJECTIVE: To determine the inter-observer reliability in localization of recorded stridor sounds in children. METHOD: The stridor sounds of 28 children programmed for laryngobronchoscopy were recorded with a high quality digital recorder. Nineteen of these recordings with a diagnosis confirmed by endoscopy, were presented to otorhinolaryngology residents, academic specialists and non-academic consultants (n=38) in different situations with and without additional information about the subject. The participants were requested to score the sounds as pharyngeal, supraglottic, glottic, subglottic or tracheal in both situations. The scores were analyzed per group of participants, per location of obstruction and per diagnosis in the different situations. RESULTS: The performance of the total group was just above chance level with an average score of 29.6%. The total results improved slightly with the additional information present, although not significantly. No significant difference was found between the three categories of participants. The supraglottic sounds were significantly better differentiated from the other locations in both assessment types (p<0.001). The tracheal region (p<0.01) and the supraglottic region (p<0.05) received significantly higher scores when the additional information was present. Laryngomalacia was significantly better differentiated (p<0.001) from the other diagnoses. The improvement in assessment with and without additional information present was significant for laryngomalacia (p=0.002) and tracheomalacia (p<0.035). CONCLUSION: The clinical observation of stridor in children shows poor levels of localization. Even though the two most common diagnoses, laryngomalacia and tracheomalacia are localized more correctly, the general performance is not significantly higher than random. No evidence was found in this study for differences in results by the observer's level of experience. We would recommend that an observational policy is only adequate when clear clinical signs are present that indicate laryngomalacia as first differential diagnosis. In other cases rigid and flexible endoscopy is indicated to locate the site and nature of obstruction.

Hearing loss in Pompe disease revisited: results from a study of 24 children.

Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Auditory function has not been studied in children with milder forms of the disease. We analyzed repetitive auditory brainstem response measurements and pure tone audiometry in 24 children with Pompe disease. Only 1 of 13 patients with milder phenotypes showed recurrent conductive hearing loss, while 10 out of 11 classic infantile patients had sensorineural hearing defects. These patients also had a high prevalence of conductive hearing loss. Five patients showed evidence of mild retrocochlear pathology, suggestive of glycogen accumulation in the central nervous system. Hearing loss persisted during therapy in all patients. The results emphasize the need for careful monitoring of auditory function in classic infantile Pompe patients, and for early implementation of hearing aids to protect speech and language development.

Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.

We report a girl with severe manifestations of Townes-Brocks syndrome (TBS) and a previously unreported serious congenital dysphagia. She is unable to swallow her saliva and consequently chokes frequently with desaturations still existing beyond the second year of life. Involvement of the feet was more extensive than is usually seen in TBS. Mutation analysis of the SALL1 gene, responsible for TBS, resulted in the identification of the de novo hot-spot mutation p.Arg276X. This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS.

Bile acids identified in middle ear effusions of children with otitis media with effusion.

OBJECTIVES/HYPOTHESIS: Several studies have shown the presence of pepsin in the middle ear effusions of children with otitis media with effusion (OME). When gastric reflux is the cause, other noxious reflux products might be present. We therefore investigated the presence of bile acids in the middle ear effusions of children with OME. STUDY DESIGN: We evaluated 38 children (63 samples of middle ear secretions (ME samples)) in a prospective study at a tertiary care children's hospital. METHODS: ME samples were collected from children with OME during ventilation tube insertion. Most ME samples were diluted with albumin. The presence of bile acids was measured with the 3alpha-hydroxy steroid dehydrogenase enzymatic method. A ME sample was considered positive when it contained at least 5 mumol/l bile acids, independent of dilution. Blood samples were taken simultaneously as a reference to determine bile acids serum levels. RESULTS: We found bile acids in 32 % (20/63) of all ME samples and in 42% (16/38) of all children. Bile acids concentrations of 12 well-soluble ME samples ranged from 5.9-40.9 mumol/L and were 3.1-19.7 times higher than the serum concentrations. In 4 of the corresponding serums, no bile acids were measurable at all. CONCLUSIONS: Bile acids are present in a number of the ME samples of children with OME. Because of dilution, it is possible that more ears contain bile acids. Bile acids are known to be noxious to mucosal cells at a higher (pH) than pepsin and, therefore, might play a role in the pathology of OME.

Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients.

Tracheal agenesis is a rare congenital malformation, which is usually fatal in the newborn period. Its incidence is approximately 1 in 50,000 births. Presentation is with respiratory insufficiency and no audible cry. Other anomalies are found in most cases. Six cases of tracheal agenesis were seen in our hospital since 1988. Their medical records were reviewed. Three of our cases classify as Floyd's type III, two as Floyd's type II and one as Floyd's type I. Associated anomalies were found in five cases. The classification of tracheal agenesis, associated anomalies and potential therapeutic options are discussed.