BACKGROUND AND OBJECTIVE

Transient congenital hypothyroidism (TCH) refers to temporary deficiency of thyroid hormone identified after birth which later recovers to improved thyroxine production. Its prevalence in the Philippines has not been reported in a large-scale study. Its diagnosis remains difficult due to its numerous possible etiologies. Identifying the predictive factors of TCH may aid in earlier diagnosis and decreased risk of overtreatment. This study aimed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS) in the Philippines from January 2010 to December 2017.

In this multicenter retrospective cohort study involving 15 NBS continuity clinics in the Philippines, medical records were reviewed, and clinical and laboratory factors were compared between children with TCH and those with permanent congenital hypothyroidism (PCH). Of the 2,913 children diagnosed with CH in the Philippines from 2010 to 2017, 1,163 (39.92%) were excluded from the study due to an unrecalled or lost to follow-up status, or a concomitant diagnosis of Down Syndrome.

Among the 1,750 patients included in analysis, 6.97% were diagnosed with TCH, 60.80% were female, mean gestational age at birth was 38 weeks, and mean birth weight was 2,841 grams. Confirmatory thyrotropin (TSH) was lower and confirmatory free thyroxine (FT4) was higher in the TCH group compared to those with PCH (TSH 32.80 vs 86.65 µIU/mL [pCONCLUSION

Of all the patients with confirmed congenital hypothyroidism via the newborn screening, 6.97% were diagnosed with transient CH. Factors associated with TCH are confirmatory TSH and FT4, L-thyroxine dose requirements, thyroid ultrasound findings, gestational age at birth, and a maternal history of thyroid illness.

Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

Objective:To determine the effectiveness of a one-stage hearing screening protocol in detecting hearing loss in high risk newborns at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center.

Methods:
Design:Cross-Sectional Study
Setting:Tertiary Government Training Hospital
Population:High-risk newborns admitted at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center from March to December 2023 underwent a one stage universal newborn hearing screening protocol. Excluded from the study were patients who were admitted for less than 48 hours, without consent from their parents or guardians and babies who were not cleared medically to undergo testing, and those who presented with aural atresia and/or any physical anomaly of the head and the external ear.

Results:A total of 169 babies were initially seen with 16 babies lost to follow up resulting in a final total of 153 babies (or 306 ears) tested. The refer and false positive rates were 9.8% and 8.92%, respectively, on average comparable to or even better than the two-step protocol in most studies. Sensitivity was determined to be 100% while specificity was 91.08%. The incidence of hearing loss in the study population was 19.8/1000, consistent with various study outcomes for high risk newborns. There was no reported incidence of auditory neuropathy in this study. The primary risk factors that were present in babies with hearing loss were: low birth weight, prematurity, neonatal intensive care unit admission of more than 5 days and exposure to ototoxic medications.

Conclusion:The one-staged Automated Auditory Brainstem Response (AABR) is an effective and efficient newborn hearing screening protocol for high-risk newborns in the Neonatal Intensive Care Unit (NICU) setting and eventually, may be considered as an alternative hearing screening technique whenever available in this cohort. More studies about improving newborn hearing screening, cost-analysis, diagnostics and interventions of hearing loss should be pursued in implementation of the Universal Hearing Screening Law in the Philippines.

Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
Cystic Fibrosis ; Neonatal Screening ; Philippines

Infant, Newborn ; Humans ; Follow-Up Studies ; Neonatal Screening

OBJECTIVE: To investigate the clinical manifestations, biochemical abnormalities and pathogenic variants among children with Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency detected by neonatal screening. METHODS: A total of 2 730 852 newborns were screened from January 2016 to December 2021 with liquid chromatography tandem mass spectrometry. Suspected SBCAD deficiency patients were diagnosed by urine organic acid analysis and high-throughput gene sequencing analysis. The clinical, biochemical and genetic changes of the confirmed cases were analyzed, in addition with guidance for diet and life management, L-carnitine supplement, and survey of growth and intellectual development. RESULTS: Twelve cases of SBCAD deficiency were diagnosed, which yielded a prevalence of 1/227 571. The lsovaleryl carnitine (C5) of primary screening blood samples was between 0.6 and 2.1 µmol/L, all exceeded the normal range. C5/acety1 carnitine (C2) was between 0.02 and 0.12, with 6 cases exceeding the normal range. C5/propionyl carnitine (C3) was between 0.1 and 1.16, with 5 cases exceeding the normal range. Free carnitine (C0) was between 18.89 and 58.12 µmol, with 1 case exceeding the normal range. Three neonates with abnormal screening results were recommended to have appropriate restriction for protein intake and two were given L-carnitine. During follow-up, their C5 has ranged from 0.22 to 2.32 µmol/L, C5/C2 has ranged from 0.01 to 0.31, C5/C3 has ranged from 0.14 to 1.7. C5 or C5/C2 and C5/C3 were transiently normal in all patients except for case 8 during the neonatal screening and follow-up. C0 was 17.42 ∼ 76.83 µmol/L Urine organic acid analysis was carried out in 9 of the 12 cases, and 2-methylbutyroglycine was elevated in 8 cases. Urine organic acid analysis was carried out in 9 cases, and 2-methylbutyrylglycine was increased in 8 cases. Genetic analysis was carried out for 11 children, and in total 6 ACADSB gene variants were identified, which included 4 missense variants (c.655G>A, c.923G>A, c.461G>A, c.1165A>G), 1 frameshift variant (c.746del) and 1 nonsense variant (c.275C>G). Among these, the C.461G>A variant was unreported previously. The most common variants were c.1165A>G (40.9%) and C.275C>G (22.7%). The patients were followed up for 18 days to 55 months. Only one patient had mental retardation, with the remainders having normal physical and mental development. CONCLUSION SBCAD deficiency is a rare disease. The detection rate of newborn screening in this study was 1/227 571. Early intervention can be attained in most asymptomatic patients through neonatal screening. In this study, the common gene variants are c.1165A>G and c.275C>G.
Humans ; Infant, Newborn ; Amino Acid Metabolism, Inborn Errors/genetics* ; Carnitine ; Neonatal Screening/methods*

Infant, Newborn ; Humans ; Hearing Tests ; Neonatal Screening ; China ; Hearing

Background: Universal newborn hearing screening is mandated in the Philippines through the Universal Newborn Hearing Screening and Intervention Act of 2009 (RA 9709). Newborn hearing screening (NBHS) centers are required to perform screening tests, compile and submit data on screened newborns, and advise parents on the subsequent steps after NBHS. Objective: The study aimed to conduct a survey of the implementation of the Universal Newborn Hearing Screening and Intervention Program (UNHSIP) in the different regions of the country; and assess the information technology (IT) capabilities of hearing centers. Methods: Fifty-one NBHS centers across twelve regions were surveyed through on-site inspections in 2016. Data was gathered on the centers’ testing capability, staffing, access to specialists, use of local protocols, connectivity, and IT capabilities. Results: All surveyed centers followed the recommended protocols of the Manual of Operations of the Universal Newborn Hearing Screening and Intervention Act of 2009 (RA 9709). Among the 12 regions visited, only five (41.67%) had Category C centers with confirmatory testing and early amplification services as recommended. Majority of facilities (96.1%) were staffed by trained and certified personnel. A small percentage had access to subspecialists such as clinical audiologists (39.2%) and speech-language pathologists (23.5%). All facilities had computer access, but only 58.8% had internet access. Majority (94.1%) of the centers visited were not using the recommended data submission methods, specifically the use of registry cards and the online registry. Only 27.5% of centers had data on newborns who underwent confirmatory testing or early intervention. Conclusion Facilities were found to be compliant to NBHS screening protocols and majority complied with certification requirements for staff; but were found to be non-compliant with use of registry cards or the online registry. Majority of centers were able to contact the parents of neonates who did not pass newborn screening, but had no system to track outcomes. Lack of confirmatory and early intervention services in identified areas emphasize the need for development of regional centers. It is recommended that measures to improve the utilization of the online registry are taken.
Neonatal Screening

Objectives: This study explores the potential of the HeLe Service Delivery Model, a community-based newborn hearing screening (NHS) program supported by a web-based referral system, in improving provision of hearing care services. Methods: This prospective observational study evaluated the HeLe Service Delivery Model based on records review and user perspectives. We collected system usage logs from July to October 2018 and data on patient outcomes. Semi-structured interviews and review of field reports were conducted to identify implementation challenges and facilitating factors. Descriptive statistics and content analysis were used to analyze quantitative and qualitative data, respectively. Results: Six hundred ninety-two (692) babies were screened: 110 in the RHUs and 582 in the Category A NHS hospital. Mean age at screening was 1.4±1.05 months for those screened in the RHU and 0.46±0.74 month for those in the Category A site. 47.3% of babies screened at the RHU were ≤1 month old in contrast to 86.6% in the Category A hospital. A total of 10 babies (1.4%) received a positive NHS result. Eight of these ten patients were referred via the NHS Appointment and Referral System; seven were confirmed to have bilateral profound hearing loss, while one patient missed his confirmatory testing appointment. The average wait time between screening and confirmatory testing was 17.1±14.5 days. Facilitating factors for NHS implementation include the presence of champions, early technology adopters, legislations, and capacity-building programs. Challenges identified include perceived inconvenience in using information systems, cost concerns for the patients, costly hearing screening equipment, and unstable internet connectivity. The lack of nearby facilities providing NHS diagnostic and intervention services remains a major block in ensuring early diagnosis and management of hearing loss in the community. Conclusion The eHealth-enabled HeLe Service Delivery Model for NHS is promising. It addresses the challenges and needs of community-based NHS by establishing a healthcare provider network for NHS in the locale, providing a capacity-building program to train NHS screeners, and deploying health information systems that allows for documentation, web-based referral and tracking of NHS patients. The model has the potential to be implemented on a larger scale — a deliberate step towards universal hearing health for all Filipinos.
Neonatal Screening ; Hearing Loss ; Health Information Systems ; Community Health Services ; Delivery of Health Care