Neonatal hyperbilirubinemia (NH) is a common finding in newborn babies in Indonesia. Common and rare variants of UGT1A1 have been known to contribute to NH etiology. This study aims to identify UGT1A1 genetic variation and haplotype associated with NH in Indonesian population. DNA was isolated from 116 cases and 115 controls and a targeted-deep sequencing approach was performed on the promoter, UTRs, and exonic regions of UGT1A1. Determining association of common variants and haplotype analysis were performed using PLINK and Haploview. Ten and 4 rare variants were identified in cases and controls, respectively. The UGT1A1 rare variants frequency in cases (5.17%) was higher than that in controls (1.7%). Four of those rare variants in cases (p.Ala61Thr, p.His300Arg, p.Lys407Asn, and p.Tyr514Asn) and three in controls (p.Tyr79X, p.Ala346Val, and p.Thr412Ser) are novel variants. The frequencies of p.Gly71Arg, p.Pro229Gln, and TA7 common variants were not significantly different between cases and controls. A haplotype, consisting of 3 major alleles of 3′ UTRs common variants (rs8330C>G, rs10929303C>T, and rs1042640C>G), was associated with NH incidence (p = 0.025) in this population. Using targeted-deep sequencing and haplotype analysis, we identified novel UGT1A1 rare variants and disease-associated haplotype in NH in Indonesian population.

BackgroundNeonatal jaundice is a common finding in newborns in Asia, including Indonesia. In some cases, the serum total bilirubin levels exceeds the 95th percentile for hours of life (neonatal hyperbilirubinemia). Severe neonatal hyperbilirubinemia (NH) could lead to kernicterus and neonatal death. Glucose-6-Phosphage Dehydrogenase (G6PD) genetic variations and deficiency have been reported in several studies to be associated with NH. This study aimed to analyze the G6PD genetic variations and its activity in neonates with and without hyperbilirubinemia in the Deutromalay Indonesian population.MethodsDeoxyribose Nucleic Acid (DNA) was isolated from peripheral blood of 116 and 115 healthy term neonates with and without hyperbilirubinemia. All infants underwent the following laboratory examinations: routine hematologic evaluation, Coombs test, G6PD activity measurement using the Randox kit method, and serum total bilirubin level. All exons of the G6PD gene were targeted for deep sequencing using MiSeq (Illumina). An association study of G6PD polymorphisms with NH was performed using PLINK.ResultsThe prevalence of G6PD deficiency in neonates with and without hyperbilirubinemia in Indonesian Deutromalay population were 1.72% (95% Confidence Interval (CI): 0.6–4.1%) and 1.74% (95% CI: 0.7–4.1%), respectively. The most common G6PD polymorphisms, i.e. rs1050757/c.* + 357A > G, rs2230037/c.1311C > T, and rs2071429/c.1365-13 T/IVS11, were identified. However, none of those polymorphisms and their haplotype were associated with NH (p > 0.05, Odds Ratio (OR) ~1.00). The prevalence of G6PD mutations in neonates with and without hyperbilirubinemia were 6.8% (95% CI: 2.3–11.5%) and 6.9% (95% CI: 2.3–11.6%), respectively. The most frequently identified G6PD mutation was the Viangchan variant (p.V291 M), which was followed by the Canton (p.R459L) and Vanua Lava (p.L128P) variants. Two novel mutations were identified both in case (p.V369A, p.I167F) and control (p.L474=, p.I36T) groups.ConclusionThe prevalence of G6PD deficiency is low in neonates with or without hyperbilirubinemia in Deutromalay Indonesian population. The majority of G6PD mutations identified among Indonesian Deutromalay population in this study are Viangchan, Canton and Vanua Lava variants.

BackgroundThe incidence of retinopathy of prematurity (ROP) is higher in Indonesia than in high-income countries. In order to reduce the incidence of the disease, a protocol on preventing, screening and treating ROP was published in Indonesia in 2010. To assist the practical implementation of the protocol, meetings were held in all Indonesia regions, calling attention to the high incidence of ROP and the methods to reduce it. In addition, national health insurance was introduced in 2014, making ROP screening and treatment accessible to more infants.ObjectiveTo evaluate whether the introduction of both the guideline drawing attention to the high incidence of ROP and national health insurance may have influenced the incidence of the disease in Indonesia.SettingData were collected from 34 hospitals with different levels of care: national referral centres, university-based hospitals, and public and private hospitals.MethodsA survey was administered with questions on admission numbers, mortality rates, ROP incidence, and its stages for 2016–2017 in relation to gestational age and birth weight.ResultsWe identified 12 115 eligible infants with a gestational age of less than 34 weeks. Mortality was 24% and any stage ROP 6.7%. The mortality in infants aged less than 28 weeks was 67%, the incidence of all-stage ROP 18% and severe ROP 4%. In the group aged 28–32 weeks, the mortality was 24%, all-stage ROP 7% and severe ROP 4%–5%. Both mortality and the incidence of ROP were highest in university-based hospitals.ConclusionsIn the 2016–2017 period, the infant mortality rate before 32 weeks of age was higher in Indonesia than in high-income countries, but the incidence of ROP was comparable. This incidence is likely an underestimation due to the high mortality rate. The ROP incidence in 2016–2017 is lower than in surveys conducted before 2015. This decline is likely due to a higher practitioner awareness about ROP and national health insurance implementation in Indonesia.

Background Congenital malformations are a global and continualissue, contributing to neonatal mortality. The incidence andprevalence, as well as distribution of congenital malformationsvary among countries.Objective To determine the 'prevalence, distribution, and trendsin congenital malformations which are important to develop plansto cope Mth the problem.Methods We reviewed all cases of congenital malformationsadmitted to the Neonatal Unit, Department of Child Health,Arifin Ahmad Hospital from 2008 to 2010. Data were collectedfrom medical records. Diagnoses of congenital malformationswere established by history-taking, physical examination,and specific laboratory tests. Trends in the distribution ofcongenital malformation types, as well as clinical outcomes werehighlighted.Results During the study period there were 2,317 infants admit-ted to the Neonatal Unit, 724 in 2008, 772 in 2009, and 821 in2010. Most patients were referred by other hospitals, at the ageof 0-3 days. Most patients had normal birth weight and were de-livered vaginally. Of the 2,317 infants, 302 were diagnosed withcongenital malformations; the most common congenital malfor-mations were of the digestive tract. The distribution of anomalytypes was relatively constant over time, but the proportion ofpatients Mth congenital malformations discharged alive increasedin the latter two years of the 3-year period studied.Conclusion Most infants in our study had congenital malforma-tions involving the gastrointestinal tract. Distribution trendswere constant over time. Further efforts should be made to bettermanage future cases. [Paediatr lndones. 2012;52:284,8].