Introduction. Birth defects are global problem with impact particularly severe in middle - to low -income countries. In the Philippines, there is a limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality. The objectives of the study were: 1.) to determine the occurrence of birth defects among patients admitted to the Philippine General Hospital (PGH); 2.) To present the distribution of patients by geographic location and age group distribution; 3.) To categorize birth defects by organ systems; and 4.) To categorize birth defects as either isolated, part of a recognizable syndrome, chromosomal syndrome of multi-malformed case. Methods. Patients admitted to PGH from 2001-2010 and to have major structural defects were included in this study. Case ascertainment was done through a review of medical records of all admitted patients age 0 to more than 65 years old. Patients with birth defects was assigned codes of International Classification of Diseases (ICD)-10 classification. Results. Of the 438,944 admissions to the PGH from 2001 to 2010, there were 8,686 (2.0%) patients with a diagnosis of at least one (1) birth defect. The most common birth defects are as follows: digestive system (3,605/8,686 or 41.5%), cardiovascular system (,839/8,686 or 32.7%), nervous system (1,070/8,686 or .3%) and genital organ anomalies (755/8,686 or 8.7%). The common digestive system anomalies were cleft lip and /or palate (1,548/8,686 or 17.8%), imperforate anus (698/8,686 or 8%) and hirschsprung disease (582/8,686 or 6.7%). Most of the cardiovascular system anomalies were congenital malformations of the cardiac septa (1,160/8,686 or 13.4%) and the great arteries (769/8,686 or 8.9%), while almost of the nervous system anomalies were due to congenital hydrocephalus (347/8,686 or 4%), encephalocoele (303/8,686 or 3.5%) and spina bifida (193/8,686 or 2.%) The most common genital organ anomalies were hypospadias (340/8,686 or 3.9%) and undescended testicle (233/8,686 or 2.7%) Majority (4,042/8,686 or 46.5%) of birth defect cases came from the National Capital Region (NCR) while 32.5% (or 2,87/8.686) of the cases came from region IV-A or Cavite, Laguna, Batangas , Rizal and Quezon (CALABARZON) Region. Conclusion. The results of this study show that the most common birth defects are digestive, cardiovascular, nervous system, and genital organ anomalies. This trend is similar to those reported internationally. The findings of the study can be the basis of policies toward the development and implementation of practical strategies for primary and secondary prevention of birth defects among Filipinos.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; ABNORMALITIES ; EPIDEMIOLOGY

Objective: Hydrops fetalis (HF) is a diagnosis with significant morbidity and mortality. It is the objective of this study to identify common etiologic causes of HF in the Philippine General Hospital (PGH). Methods: This is a retrospective review of hydrops fetalis cases delivered at the PGH from 2010 to 2014. There was a total of 75 identified cases of hydrops fetalis. However, only 58 of these, or 77.33% have available medical charts for review. Results: The median gestational age at birth was 31 (range 2140) weeks. There were 19 identified cases (32%) of stillbirth. Of the 32 patients born alive, 30 (93.75%) died in the immediate neonatal period. The etiologies of HF were identified in 15 cases, which included congenital anomalies (n=4), cardiac anomalies (n=3), infectious problems (n=3), hematologic anomalies (n=2), placental anomalies (n=2) and congenital tumor (n=1). Cases of congenital anomalies were only detected by congenital anomaly scan; no further work-ups were done. Fifteen (15) mothers presented with microcytic, hypochromic anemia on complete blood count (CBC). The cause of HF was not confirmed in the remaining 43 (74%) cases. Conclusion It is important to fully investigate the causes of HF to aid in the proper management and counseling. Further work-up must be done for mothers presenting with microcytic, hypochromic anemia. This is an important feature of alpha thalassemia. Partners of women suspected to have alpha thalassemia should also have a hematologic screening. The deletion of the four alpha genes will result to HB Bart’s hydrops fetalis; a major cause of hydrops fetalis in Southeast Asian countries.
Hydrops Fetalis

Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike–wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.
Sotos Syndrome ; Carbamazepine

Objective: The study is a retrospective review which provides preliminary data on the correlation between biochemical profiles and initial clinical manifestation of patients diagnosed to have argininosuccinate synthetase deficiency (ASSD) and argininosuccinate lyase deficiency (ASLD) detected by expanded newborn screening (ENBS). Methods: This is a study of five distal UCD patients initially detected by elevated citrulline on ENBS. Medical charts of the patients were reviewed. The initial clinical manifestations of the patients were correlated with results of biochemical tests. Results: There were four cases of ASLD and one case of ASSD reviewed in this study. All cases of ASLD were confirmed by the presence of argininosuccinic acid (ASA) in the urine metabolic screen (UMS). The plasma citrulline level of the ASSD patient is significantly elevated as compared to the ASLD patients (2,690 µmol/L; NV: 10-45 µmol/L). The ASSD patient and one ASLD patient were symptomatic within the first six days of life. Both presented with significantly elevated plasma ammonia, citrulline and glutamine levels. Three ASLD patients were asymptomatic on initial screening. Conclusion ENBS has shown importance in the early detection and management of ASSD and ASLD. Early initiation of management may prevent hyperammonemic crises. Long term outcome studies are needed to look into the correlation of neurodevelopmental outcome with lifelong accumulation of citrulline and glutamine in ASSD and ASA in ASLD.
Citrullinemia ; Argininosuccinic Aciduria ; Argininosuccinic Acid

Background: With the increasing coverage of the newborn screening (NBS) program in the Philippines, the number of patients being followed-up has also been increasing. The NBS continuity clinics (NBSCCs) have continuously been creating strategies to improve long-term patient health outcomes. Objective: This paper aimed to describe the establishment of a community-based networking system of satellite clinics. Methodology: A document review of resources including powerpoint presentations, a local ordinance, Newborn Screening Reference Center database of statistics of the NBSCCs from 2015 to 2021 and a Department of Health - Center for Health Development memorandum was done. Results: NBS satellite clinics were developed as a strategy for improving the tracking and long-term follow-up of patients confirmed for one of the conditions in the NBS panel. Satellite clinics offering long-term follow-up services were set up in hospitals strategically located in the provinces of the Western Visayas, especially in areas with a high number of patients. Capacity building activities were initiated among the established NBS satellite clinic core teams which were composed of doctors, nurses, and/or midwives. A total of 15 satellite clinics spread out across the six provinces of Western Visayas were established in 2017. By the end of 2020, the Western Visayas region had a total of 528 confirmed patients endorsed by the Newborn Screening Center Visayas (NSC V) and the recall rate increased from 62.77 % in 2015 to 87.79 % in 2020. Conclusion The establishment of satellite clinics provided a region-wide accessibility and availability of longterm follow-up services to the patients as seen by the increase in the patient recall rate. The benefits were seen especially during the implementation of strict border controls due to the pandemic which ensured the continuity of care of the patients in the region. This concept can serve as a model for other NBSCCs in the archipelago and for other regions across the Philippines.
Neonatal Screening

Background: As social media continue to grow as popular and convenient tools for acquiring and disseminating health information, the need to investigate its utilization by laypersons encountering common medical issues becomes increasingly essential. Objectives: This study aimed to analyze the content posted in Facebook groups for Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency and how these engage the members of the group. Methods: This study employed an inductive content analysis of user-posted content in both public and private Facebook groups catering specifically to G6PD deficiency. The G6PD Facebook groups with 10 or more posts within the past 12 months were selected for this study. Data were harvested from posts and comments using ExportComment. Results: A total of 46 G6PD-related Facebook groups were identified. Of which, 19 were public and 27 were private groups, with an average membership of 5000-6000 accounts. After eligibility based on criteria and authorization for private groups, 3 public and 3 private groups were included, with the majority of these groups focused on sharing information. Five main themes of posted content were identified: diagnosis, management, beliefs, psychosocial factors, and medical requirements. “Diagnosis”-related posts referred to conversations about the causes and symptoms of G6PD, “management” referred to medication or diet, “beliefs” involved traditional or lay perceptions, “psychosocial factors” referred to posts that disclosed how psychosocial factors influenced G6PD deficiency practices, and “medical requirements” referred to documentation regarding the condition. The bulk of these posts used three strategies for communication: information-requesting, self-disclosure, and promotion of products/services. Information requests were the most common. Conclusion The results of the study showed opportunities and challenges in health education on G6PD, especially in evaluating the credibility and accuracy of the information given and received. Looking at the content and manner of communicating information noted, the newborn screening program may improve its advocacy and education campaign, and may develop targeted educational materials and effective dissemination strategies that could clarify, explain, or refute information and beliefs mostly shared on these platforms.
Glucosephosphate Dehydrogenase Deficiency ; Self-Help Groups