Neonatal Screening Program Research Articles

Skrining Hipotiroid Kongenital (SHK) Pada Ibu Hamil di Puskesmas Tajurhalang Kabupaten Bogor

According to WHO, in several developed countries such as America, Japan, Australia and Europe, since 197-, neonatal screening programs for hypothyroidism have been implemented so as to reduce the occurrence of mental retardation in children (Apriliani et al., 2021). Symptoms of hypothyroidism in newborns are usually not very obvious and congenital hypothyroidism can cause severe mental retardation unless therapy is received early, so a congenital hypothyroid (HK) screening examination is very important to do(Apriliani et al., 2021). Congenital Hypothyroidism Screening is effective 48-72 hours after birth(Ida Bagus Eka Utama Wija, 2020). Based on the pre and post test scores from 30 participants, it was found that there was an increase in the good category in knowledge with an average score of 1.7 to 3.00, meaning that the counseling was successfully implemented.There needs to be awareness of pregnant women, where the task of building awareness is held by health workers, so it is hoped that health agencies which are already required to run the SHK program will be more aggressive and package their invitations to pregnant women well.

Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-based Cohort Study.

It has been suggested that injuries and accidents are increased in females with congenital adrenal hyperplasia (CAH), but the prevalence is unclear. To study the prevalence of injuries and accidents in females and males with CAH. Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with matched controls (n = 71 400). Data were derived by linking National Population-Based Registers. Prevalence of injuries and accidents. Mean age was 29.8 ± 18.4 years. Injuries were more prevalent in patients with CAH than in controls (relative risk, 1.34; 95% CI, 1.24-1.44), and this was found in both sexes (females: 1.43; 1.29-1.58; males: 1.25; 1.12-1.38). In the classical phenotype, the prevalence of injuries was higher, especially in females but not in the nonclassic phenotype. In the genotype groups, injuries were mainly increased in females. Head injuries were increased in all patients with CAH and in the different phenotypes and were mainly driven by females. More patients with CAH born before the introduction of neonatal screening had had an injury compared with controls (1.48; 1.35-1.62); this was seen in both sexes. In patients with CAH born after the introduction of screening, the prevalence of injuries was overall increased (1.20; 1.07-1.35), and in females with CAH but not in males. Accidents showed a similar pattern to injuries in all comparisons. Patients with CAH had an increased prevalence of both injuries and accidents, especially in females and in those born before the neonatal screening program. Patients with nonclassic phenotype were hardly affected.

A Study of Glucose-6-Phosphate Dehydrogenase Deficiency among Children attending the Emergency Hospital in Zakho City Kurdistan Region, Iraq

Background: G6PD deficiency, which affects 400 million individuals globally, is an X-linked hereditary enzymopathy that causes acute hemolysis after exposure to specific oxidative agents such as fava beans, more than 37 drugs, and infections viral or bacterial. Neonatal jaundice worsened by kernicterus is one of the condition's significant consequences. It can be prevented by avoiding the oxidative factors that cause a hemolytic episode alongside neonatal screening programs for early detection of afflicted individuals. Objectives: This research aimed at investigating the variability in clinical and biochemical manifestations among children with G6PDD. This is the first study to be carried out in the Zakho area. Methods: A cross-sectional study was used, recruiting 112 children attending Zakho Emergency Hospital from January 2022 to April 2023. Laboratory aids involved in obtaining CBC, liver enzyme activities, and blood grouping were all investigated. The IBM SPSS 26 program was used to analyze the obtained data. Results: There was no statistically significant difference between male and female patients in terms of age, time of admission, hemoglobin level, WBC count, and liver enzymes. The majority of cases who visited Zakho Emergency Hospital within 72 hours of exposure to the triggering agent were males (67.9%), with the most common clinical features being jaundice, dark urine, and abdominal pain. Conclusion: In this study, the three main symptoms in G6PD deficient patients with acute hemolysis were pallor, jaundice, and black urine. These signs appeared several hours or even days after consuming fava beans. The primary clinical symptoms and the patient's gender, family history, or prior newborn jaundice were not related, according to our research.

Relationship between infant hypothyroidism and maternal thyroid disease

Background: Due to the very high complications of neonatal hypothyroidism in the country, neonatal screening program is performed for timely diagnosis and treatment of neonates. The aim of this study to investigate the relationship between infant hypothyroidism and maternal thyroid disease. Methods: This cross-sectional study was done on 195 neonates with a diagnosis of hypothyroidism. Necessary data were collected by a checklist and then analyzed by statistical methods in statistical package for the social sciences (SPSS) version 21 by statistical methods. Results: Of all mothers, 21.0% had a history of thyroid disease. There was no statistically significant relationship between maternal age and infant thyroid stimulating hormone (TSH). There was no significant relationship between the history of maternal hypothyroidism and maternal hypothyroidism (during experiments) with the amount of TSH in the newborn. There was a direct and significant relationship between maternal TSH level and maternal free T4. But there was no statistically significant relationship between infant TSH level and maternal TSH level and free T4. There was no significant difference in neonatal TSH levels with maternal anti-TPO status. There was no significant relationship between the history of maternal diabetes and the history of maternal hypertension with neonatal TSH. There was no significant difference in neonatal TSH levels by maternal thyroid status. Conclusions: In the present study, no significant relationship was found between the incidence of neonatal hypothyroidism and the presence of thyroid disease in mothers. The existence of different genetic and environmental factors and the significant impact of each of these factors can justify this result.

Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.

Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in thyroid peroxidase (TPO). In low- and middle-income countries with no newborn screening programs, CH poses a great risk of ID and long-term morbidity. We report two large Pakistani families with a total of 16 patients afflicted with CH. Detailed clinical and behavioral assessments, SNP-based homozygosity mapping, linkage analysis, and exome sequencing were performed. Initially, affected individuals were referred as suffering ID (in 11 of 16 patients) and developmental delay (in 14). Secondary/associated features were verbal apraxia (in 13), goiter (in 12), short stature (in 11), limb hypotonia (in 14), no pubertal onset (five of 10 of age ≥14 years), high myopia (in eight), muscle cramps (in six), and in some, variable microcephaly and enuresis/encopresis, fits, chronic fatigue, and other behavioral symptoms, which are not characteristics of CH. Molecular genetic analyses led to the discovery of homozygous variants in TPO: novel missense variant c.719A>G (p.Asp240Gly) in family 1 and rare c.2315A>G (p.Tyr772Cys) in family 2. In low-resource countries where neonatal screening programs do not include a CH test, the burden of neurodevelopmental disorders is likely to be increased due to untreated CH. Secondly, in the background of the high prevalence of recessive disorders due to high parental consanguinity, the severe manifestation of TPO-deficiency mimics a wide range of neurological and other presentations posing a diagnostic dilemma.

Portuguese Neonatal Screening Programme: A Retrospective Cohort Study of 18 Years of MS/MS.

The Portuguese Neonatal Screening Programme (PNSP) identifies patients with rare diseases through nationwide screening. Currently, 27 diseases are diagnosed, amongst which are 24 Inborn Errors of Metabolism (IEM), covering approximately 100% of neonates (1). In 2004, the national laboratory implemented a new screening method, tandem mass spectrometry (MS/MS) to test for amino acids and acylcarnitines. This new protocol revolutionized the PNSP and allowed for the analysis of an increased number of IEM, with clear improvements in treatment timings and clinical outcomes (2). From 2004 to 2022, 1 764 830 neonates were screened with MS/MS technology. Those who displayed biochemical profiles indicating an IEM were subjected to molecular characterization via genomic DNA extraction, PCR amplification, and direct Sanger sequencing method of dried blood spot samples. A cohort of 681 newborns were diagnosed with an IEM. MCAD deficiency is the most frequent, with 233 confirmed diagnoses, showing predominantly c.985A>G (p.K329E) mutation of the ACADM gene in homozygosity. Approximately 1/3 of the 33 confirmed cases of Glutaric Aciduria type I present homozygous for the c.1204C>T (p.Arg402Trp) mutation in GCDH. Around 60% of cases of MAT II/III deficiency display the dominant mutation of the MAT1A gene, c.791G>A (p.Arg264His). These genetic profiles and others were determined as diagnostic confirmation for 24 of the IEM screened. This data shows the molecular epidemiology of patients with confirmed IEM diagnosis identified by neonatal screening. Some diseases out of the scope of the PNSP were also detected as a differential diagnosis after biochemical suspicion in the dried blood spot sample. The retrospective analysis of the PNSP allows for an overview of 18 years of achievements accomplished by the national screening for IEM since MS/MS was implemented. For some pathologies with low incidence, it's difficult to trace a discernible pattern. However, presenting de novo mutations for these diseases might provide insights on how to approach different phenotypes. The aim of this work is to establish the molecular epidemiology of metabolic diseases screened.

A cross-sectional study of neonatal hearing impairment: understanding its prevalence and risk factors in a tertiary care hospital in Kerala, India

Background: Congenital hearing loss is one of the most prevalent sensory impairments with severe consequences when undetected. The objective of neonatal hearing screening is to identify hearing impairments shortly after birth to initiate treatment as soon as possible and to allow affected children to enjoy normal development. The aim of the study was to determine the prevalence and identify the predisposing factors of HI among neonates in a tertiary care centre in Idukki district of Kerala using a universal neonatal hearing screening (UNHS) program, in an attempt to initiate early interventions in affected neonates. Methods: This was a cross-sectional study conducted in the department of ENT, Al Azhar Medical College and Super Specialty Hospital, Thodupuzha, Kerala over a period of 1 year involving 646 neonates. The study excluded any newborn whose parent/guardian did not give consent for the study, or neonates with microtia grade II and above. Results: The overall prevalence of HL in neonates in our study was 3.1 in 1000 live births out of which 61% were males and 39% females. The risk factors found in our study were preterm babies, maternal age >35, low birth weight, teenage pregnancy, primigravida, and neonatal jaundice requiring blood transfusion. Conclusions: In a standard neonatal population, both at-risk and non-at-risk neonates warrant the immediate adoption of a universal hearing screening program for all neonates in India. Hence, we would like to stress the importance of identifying infants with HL, administering early treatment and performing appropriate screening tests in infants at the right time period.

Feasibility of establishing a neonatal hearing screening program and measuring hearing loss among neonates in Dakahlia Governorate

Feasibility of establishing a neonatal hearing screening program and measuring hearing loss among neonates in Dakahlia Governorate

Delayed diagnosis of congenital cataract in preterm infants: Findings from the IoLunder2 cohort study.

Early detection is critical to achieving optimal outcomes in children with congenital cataract. We hypothesized that detection of congenital cataract in preterm infants would be delayed compared with term/post-term peers due to delayed delivery of whole population child health interventions. Secondary analysis of data using a nested case-control study approach in a prospective population-based cohort study. Inclusion criteria comprised children diagnosed with congenital cataract requiring surgical intervention during the first two years of life in UK and Ireland in 2009 and 2010. Association between late detection (after eight weeks post-natal age, ie outside the neonatal and infant eye national screening programme) of cataract and preterm birth (gestational age less than 37 weeks) was assessed using multivariable logistic regression. Of 186 children with congenital cataract, 17 children were born preterm (9%, gestational age range 24-37weeks). Neonatal detection occurred in 64/186 (34%), and late detection in 64 children (34%). Late detection was independently associated with premature birth, specifically moderate/late preterm birth (adjusted odds ratio 3.0, 95%CI 1.1 to 8.5). Our findings suggest that, despite enhanced eye surveillance being recommended for those born moderate/late preterm (32+ weeks gestational age, ie not eligible for retinopathy of prematurity screening), congenital cataract is not being effectively detected through the routine screening programme for this vulnerable group. It is necessary to improve the effectiveness of the screening programme, and care must be taken to ensure that competing health care needs of preterm children do not prevent universal child health interventions.

A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his clinic rapidly improved with biotin treatment. With the awareness of different clinical presentations of BTD deficiency, patients presenting with clinical symptoms raising the suspicion of this disorder must be evaluated for enzyme activity and genetic analysis must be planned. It is of great importance to keep in mind the possibility of this rare but treatable neurometabolic disorder, even in countries with neonatal screening programme and include it in differential diagnoses in order to prevent irreversible symptoms.

A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his clinic rapidly improved with biotin treatment. With the awareness of different clinical presentations of BTD deficiency, patients presenting with clinical symptoms raising the suspicion of this disorder must be evaluated for enzyme activity and genetic analysis must be planned. It is of great importance to keep in mind the possibility of this rare but treatable neurometabolic disorder, even in countries with neonatal screening programme and include it in differential diagnoses in order to prevent irreversible symptoms.

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.

IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical and biochemical features, including hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism. Congenital central hypothyroidism is a rare disease (1:65,000 births); the detection of which may be delayed and missed by neonatal screening programs since most neonatal screening programs are based on TSH determination in dried blood spots only. Untreated hypothyroidism may cause abnormal liver biochemistry and non-alcoholic fatty liver disease. Our aim is to report a case of secondary hypothyroidism in an infant with an uncommon initial presentation. A 3-month-old male baby was referred to our hospital due to elevated alpha-fetoprotein levels, hypercholesterolemia, and macrosomia. Initial investigations revealed enlarged fatty liver and central hypothyroidism. Pituitary insufficiency was biochemically excluded and a pituitary MRI showed normal findings. Upon genetic analysis, a hemizygous variant NM_001170961.1:c.2422dup, p.(His808Profs*14), in IGSF1 gene was detected, establishing the diagnosis of the IGSF1 deficiency syndrome. In our patient, no other clinical findings were identified. Treatment with levothyroxine led to the remission of liver disease. Liver disease may be the initial presentation of secondary hypothyroidism in neonates and infants. Macrosomia in patients with isolated secondary central hypothyroidism is a strong indicator of IGSF1 syndrome.

Comparison between Gibson-Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis.

The sweat test (ST) is the current diagnostic gold standard for cystic fibrosis (CF). Many CF centres have switched from the Gibson-Cooke method to the Macroduct system-based method. We used these methods simultaneously to compare CF screening outcomes. STs using both methods were performed simultaneously between March and December 2022 at CF Centre in Florence. We included newborns who underwent newborn bloodspot screening (NBS), newborns undergoing transfusion immediately after birth, and children with CF screen-positive, inconclusive diagnosis (CFSPID). We assessed 72 subjects (median age 4.4 months; range 0-76.7): 30 (41.7%) NBS-positive, 18 (25.0%) newborns who underwent transfusion, and 24 (33.3%) children with CFSPID. No significant differences were found between valid sample numbers, by patient ages and groups (p = 0.10) and between chloride concentrations (p = 0.13), except for sweat chloride (SC) measured by the Gibson-Cooke and Macroduct methods in CFSPID group (29.0, IQR: 20.0-48.0 and 22.5, IQR: 15.5-30.8, respectively; p = 0.01). The Macroduct and Gibson-Cooke methods showed substantial agreement with the SC values, except for CFSPID, whose result may depend on the method of sweat collection. In case of invalid values with Macroduct, the test should be repeated with Gibson-Cooke method.

Diagnosis of Congenital Hypothyroidism by Analysis of Medical Records

Congenital hypothyroidism is one of the causes of mental retardation in children that can be prevented if recognized and treated early. Thyroid hormones play a role in the development of the central nervous system. It is known that 95% of CH do not show typical clinical signs and symptoms at birth and the duration of early intervention to prevent mental retardation is short. Therefore, most developed countries have conducted neonatal screening programs for early detection of CH. The purpose of this study was to determine the diagnosis and management of congenital hypoteroid based on medical record analysis. This research method is a cross-sectional descriptive study with a quantitative approach to patient medical records. Data were analyzed in accordance with the standard diagnosis and management of congenital hypoteroid issued by the Pediatric Association in 2017. The clinical practice guidelines explain that congenital hypothyroidism can be transient or permanent and is classified according to the location of the disorder: primary (in the thyroid gland) or secondary (in the pituitary and/or hypothalamus); severity of hypothyroidism: (serum TSH levels > 100 mIU/L are considered severe; and age of onset of hypothyroidism. The most common form is permanent primary CH (high serum TSH levels) due to thyroid dysgenesis. Permanent CH requires lifelong treatment while transient CH does not. The results of the study have met clinical guidelines, namely CH screening in newborns is positive if the TSH level is ≥ 20 mU/L. Infants with positive screening results must be confirmed by re-checking serum TSH and FT4. The diagnosis of CH is made when TSH levels are high and FT4 is low. In non-screened infants, the diagnosis is made through clinical symptoms and serum TSH and FT4 examination.

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots.

Residual heel prick Dried Blood Spots (DBS) are valuable samples for retrospective investigation of inborn metabolic diseases (IMD) and biomarker analyses. Because many metabolites suffer time-dependent decay, we investigated the five-year stability of amino acids (AA) in residual heel prick DBS. In 2019/2020, we analyzed 23 AAs in 2170 residual heel prick DBS from the Dutch neonatal screening program, stored from 2013-2017 (one year at +4 °C and four years at room temperature), using liquid chromatography mass-spectrometry. Stability was assessed by AA changes over the five years. Hydroxyproline could not be measured accurately and was not further assessed. Concentrations of 19 out of the remaining 22 AAs degraded significantly, ranked from most to least stable: aspartate, isoleucine, proline, valine, leucine, tyrosine, alanine, phenylalanine, threonine, citrulline, glutamate, serine, ornithine, glycine, asparagine, lysine, taurine, tryptophan and glutamine. Arginine, histidine and methionine concentrations were below the limit of detection and were likely to have been degraded within the first year of storage. AAs in residual heel prick DBS stored at room temperature are subject to substantial degradation, which may cause incorrect interpretation of test results for retrospective biomarker studies and IMD diagnostics. Therefore, retrospective analysis of heel prick blood should be done in comparison to similarly stored heel prick blood from controls.

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.

Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them from developing severe neurological damage and mental disabilities. However, between 20 and 30% of early-treated patients with PKU present focal cognitive deficits, including deficits in working memory, processing speed, and psychiatric symptoms such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD). Therefore, age-specific neuropsychiatric and cognitive tests are important components of PKU patient care. To date, there are no officially approved guidelines or recommendations of tools in Portuguese validated for use in Brazil that could be applied to assess these parameters in patients with PKU. To recommend tools validated for use in Brazil that can be used in daily clinical practice to assess quality of life and neuropsychological outcomes in patients with PKU. Six Brazilian experts discussed about eligible tools based on their clinical experience, the feasibility of their use in clinical routines, and their availability in public health services. Before the meeting, an independent review of the literature was conducted to identify the currently validated tools in Brazil, using the MEDLINE and SciELO databases. The experts recommended nine tools to assess quality of life (Peds-QL, SF-36 or WHOQOL-bref), executive function (BRIEF or Bayley-III), IQ (SONR 2½-7[a] or WASI) and ADHD (MTA-SNAP-IV and ASRS). These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU.

Effect of Neonatal Hearing Screening Results on the Lost to Follow-Up at the Diagnostic Level.

(1) Background: An important part of any neonatal hearing screening program is monitoring diagnostic visits to confirm or exclude the presence of hearing loss. In addition, time plays an important role in the diagnosis. We identified the number of children who came for a diagnostic visit and analyzed the time of the first audiological visit, depending on the result of the hearing screening test performed in the first days of a child's life and the presence or absence of risk factors of hearing impairment. (2) Methods: We analyzed 6,580,524 children, of which 8.9% required further diagnostics. The mean time of follow-up diagnostic visit in the analyzed group was 130 days and differed due to the presence or absence of risk factors for hearing loss before and after the neonatal period. (3) Results: Although the risk of hearing loss in children with risk factors is 2.31 to 6.38 times higher than in children without risk factors depending on the result of the screening test, more than 40% of parents do not report to scheduled audiological visits. (4) Conclusions: Doctors, nurses, and midwives who screen hearing at the neonatological level play an important role in educating parents about the possibility of hearing loss in a child and the need for an audiological examination.

Newborn screening for severe combined immunodeficiency: lessons from a pilot study and prospects

The expansion of the neonatal screening program in Ukraine from October 2022 became an important achievement in the development of domestic medicine. Despite the severe challenges of the war and the burden of the COVID-19 pandemic, Ukraine was able to reach the level of the leading European countries, in which screening of newborns covers more than 20 disorders. Severe combined immunodeficiencies (SCID) are among the diseases included in the program of expanded mass screening of newborns. In this article, the authors focus on the challenges they faced during the implementation of the first pilot project in Ukraine on newborn screening for severe combined immunodeficiencies using TREC and KREC assay. The method allows to determine not only SCID, but also other conditions that occur with T- and/or B-lymphopenia, which can be considered both an advantage and a disadvantage of the method, because it requires to set the certain level of cutoff. The urgency of the investigation is critically important for SCID screening. Therefore, organizational issues and the coordinated functioning of the entire screening program are of decisive importance. The conducted analysis, considering our own experience and data of other studies, outlined the issues that need to be resolved in the further implementation of screening for SCID. Improvement of the screening algorithm (with clarifying examinations when taking the second sample, or genetic examination of the SCID panel already from the first sample); determining the path of a patient with a positive TREC result; solving the issue of measuring the lymphocyte subsets by flow cytometry at the regional centers; issues of BCG vaccination and prevention of cytomegalovirus infection; conducting trainings with doctors involved in the screening program; sharing the information among the medical community and the public will improve the newborn screening program for SCID, shorten the patient’s path to diagnosis, which in the end may have a positive impact on the quality of life and life expectancy of those with severe T- and/or B-lymphopenia.

Neonatal Hearing Screening Programme And Challenges Faced By The Developing Country: A Tertiary Care Hospital Experience.

To screen new-borns to diagnose any hearing impairment early. The prospective, cross-sectionalstudy was conducted at the Department of Otorhinolaryngology, Head and Neck Surgery Liaquat National Hospital, Karachi, from November 1, 2020, to April 30, 2021, and new- borns of either gender aged >12h born via spontaneous vaginal delivery, induced labour, and Caesarean section. A predesigned questionnaire was used to collect detailed case history, including gestational age, duration of labour, and other prenatal, natal, and postnatal risk factors. Otoacoustic emission test was performed, and infants referred twice were scheduled for complete diagnostic evaluation and brainstem evoked response audiometry. Data was analysed using SPSS 23. Of the 267 neonates, 249(93.3%) passed the first screening. Of the remaining 18(6.7%) neonates, 8(44.4%) passed the second screening, while 10(55.5%) were asked to come for a follow-up after three weeks. Of them, 3(30%) returned for check-up, while 7(70%) did not show up. Neonatal risk factors associated with hearing loss need to be identified, and a comprehensive hearing screening programme is required for neonates.

Analysis of congenital hearing loss after neonatal hearing screening.

Neonates undergo neonatal hearing screening to detect congenital hearing loss at an early stage. Once confirmed, it is necessary to perform an etiological workup to start appropriate treatment. The study objective was to assess the different etiologies, risk factors, and hearing results of infants with permanent hearing loss and to evaluate the efficacy and consequences of the different screening devices over the last 21 years. We conducted a single-center retrospective cohort analysis for all neonatal hearing screening program referrals and performed an etiological workup in case of confirmed hearing loss. We analyzed the evolution of the etiological protocols based on these results. The governmental neonatal hearing screening program referred 545 infants to our center. Hearing loss was confirmed in 362 (66.4%) infants and an audiological workup was performed in 458 (84%) cases. 133 (24.4%) infants were diagnosed with permanent hearing loss. Ninety infants (56 bilateral and 34 unilateral) had sensorineural hearing loss, and the degree was predominantly moderate or profound. The most common etiology in bilateral sensorineural hearing loss was a genetic etiology (32.1%), and in unilateral sensorineural hearing loss, an anatomical abnormality (26.5%). Familial history of hearing loss was the most frequently encountered risk factor. There is a significant number of false positives after the neonatal hearing screening. Permanent hearing loss is found only in a limited number of infants. During the 21 years of this study, we noticed an increase in etiological diagnoses, especially genetic causes, due to more advanced techniques. Genetic causes and anatomical abnormalities are the most common etiology of bilateral and unilateral sensorineural hearing loss, respectively, but a portion remains unknown after extensive examinations.