Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.

Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as quality assurance and forensics, making it the ideal candidate for bio-banking. However, worldwide policies vary with regard to the duration of storage of DBS cards and how it can be used. Recent advances in genomics have also made it possible to perform extended genetic testing on DBS cards in the newborn period to diagnose both actionable and non-actionable childhood and adult diseases. Both storage and secondary uses of DBS cards raise many ethical, clinical, and social questions. The openness of the key stakeholders, namely, parents and healthcare providers (HCPs), to store the DBS cards, and for what duration and purposes, and to extended genetic testing is largely dependent on local cultural-social-specific factors. The study objective is to assess the parents' and HCPs' awareness and receptivity toward DBS retention, its secondary usage, and extended genetic testing. A cross-sectional, self-administrated survey was adopted at three hospitals, out of which two were public hospitals with maternity services, between June and December 2022. In total, 452 parents and 107 HCPs completed and returned the survey. Overall, both HCPs and parents were largely knowledgeable about the potential benefits of DBS card storage for a prolonged period and its secondary uses, and they supported extended genetic testing. Knowledge gaps were found in respondents with a lower education level who did not know that a DBS card could be stored for an extended period (p < 0.001), could support scientific research (p = 0.033), and could aid public health research, and future policy implementation (p = 0.030). Main concerns with regard to DBS card storage related to potential privacy breaches and anonymity (Parents 70%, HCPs 60%). More parents, compared to HCPs, believed that storing DBS cards for secondary research does not lead to a reciprocal benefit to the child (p < 0.005). Regarding extended genetic testing, both groups were receptive and wanted to know about actionable childhood- and adult-onset diseases. More parents (four-fifths) rather than HCPs (three-fifths) were interested in learning about a variant with unknown significance (p < 0.001). Our findings report positive support from both parents and HCPs toward the extended retention of DBS cards for secondary usage and for extended genetic testing. However, more efforts to raise awareness need to be undertaken in addition to addressing the ethical concerns of both parents and HCPs to pave the way forward toward policy-making for DBS bio-banking and extended genetic testing in Hong Kong.

Palivizumab for Infants < 29 Weeks in Hong Kong without a Clear-Cut Season for Respiratory Syncytial Virus Infection-A Cost-Effectiveness Analysis.

AIM: To evaluate the cost-effectiveness of palivizumab prophylaxis for premature infants born <29 weeks in Hong Kong. METHOD: We evaluated the hospitalization rate for respiratory syncytial virus (RSV) infection within the first 12 months of discharge of a cohort of preterm infants born between 2010 and 2014 at two local hospitals. RESULTS: In total, 40 of 135 infants were given palivizumab. The hospitalization rate for premature infants <29 weeks was reduced from 15.8 to 5% (p = 0.096) and that for infants <27 weeks was reduced from 33.3 to 8.7% (p = 0.046). In the former group, the incremental cost-effectiveness ratio per hospital admission prevented (ICER/HAP) was US dollar (USD) 24 365. In the latter subgroup, the ICER/HAP was USD 3108. CONCLUSION: The cost-effectiveness as measured for infants <27 weeks is more favorable than that for infants <29 weeks.

Application of Selective Bronchial Intubation versus Neurally Adjusted Ventilatory Assist in the Management of Unilateral Pulmonary Interstitial Emphysema: An Illustrative Case and the Literature Review.

In the treatment of left-sided pulmonary interstitial emphysema (PIE) in a 23-week neonate, we used two ventilatory strategies: selective bronchial intubation from day 10 to 15 and neurally adjusted ventilatory assist (NAVA) from day 18 to 26. We compared the effects and adverse effects of these two strategies. On selective bronchial intubation, desaturation was frequent. Fentanyl infusion was required. There was an episode of carbon dioxide retention coupled with hypotension. On NAVA, the neonate was clinically stable without the requirement of sedation. On selective bronchial intubation, ventilator setting in terms of mean airway pressure and oxygen requirement was higher, which came down on the first day of NAVA. Radiologically unilateral PIE did not resolve and became localized in the left middle zone of lung field on selective bronchial intubation. Also, the lobar collapse of ipsilateral, as well as contralateral lungs occurred. On NAVA, unilateral PIE resolved. NAVA might be a good option for the management of unilateral PIE.

Histological chorioamnionitis - implication for bacterial colonization, laboratory markers of infection, and early onset sepsis in very-low-birth-weight neonates.

OBJECTIVE: The objective of this study was to evaluate the relationship between histological chorioamnionitis and laboratory markers of infection and congenital sepsis in very-low-birth-weight (VLBW) premature neonates. METHOD: This study is a retrospective review of laboratory results of VLBW neonates with birth weight less than 1500 g in our neonatal intensive care unit (NICU) in the last 5 years. RESULTS: Ninety-nine VLBW neonates had histological chorioamnionitis, and 50 of them further had funisitis. One hundred and sixty-two VLBW neonates did not have chorioamnionitis. The chorioamnionitis group was more likely than the 'no chorioamnionitis' group to have raised C-reactive proteins (23% versus 9.9%; p = 0.006) and neutrophilia (41% versus 4.3%; p < 0.001). White blood cells were more likely to be present in gastric lavage of the former group than the latter group (70% versus 50%; p = 0.002). Ear swab and gastric lavage were more likely to yield positive growth of micro-organisms from the former group than the latter group (34% versus 9.9% and 22% versus 2.7%; p < 0.001 and p < 0.001, respectively). Congenital sepsis proven by positive blood culture was also more likely to occur (3% versus 0%; p = 0.027). Presence of funisitis further increased the likelihood of the above abnormal laboratory results. CONCLUSIONS: Histological chorioamnionitis increases the likelihood of having markers of infection, bacterial colonization, and congenital sepsis. Only 3% of histological chorioamnionitis resulted in congenital sepsis confirmed by blood culture.

Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia.

We report a case of survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia. The occurrence of these malformations is consistent with the postulation that intra-uterine hypoxia due to the presence of hemoglobin Bart's (Hb Bart's) is the causative factor for the development of these malformations. There were two pitfalls in diagnosis: normal spun hematocrit level despite a low hemoglobin level and absence of hydropic features. Our case illustrated that nitric oxide and high frequency ventilation were ineffective in ameliorating persistent pulmonary hypertension of newborn until exchange transfusion was done replacing Hb Bart's with normal hemoglobin.

A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia.

INTRODUCTION: Sarcosinaemia is a rare metabolic disorder which has not been reported in Asia. CLINICAL PICTURE: The urine samples of 2 patients were screened as a routine metabolic screening offered for patients with mental retardation in our hospital. We used gas chromatography-mass spectrometry (GC-MS) which is capable of detecting abnormal pattern in amino acids and organic acids. Plasma sarcosine level was further quantified by GC-MS. The same methods were used in the investigations of asymptomatic family members. Urine examination by GC-MS revealed excessive amount of sarcosine in urine (normally undetectable) and their plasma sarcosine levels were raised. The 2 differential diagnoses of presence of sarcosine in urine--glutaric aciduria type II and folate deficiency--were ruled out by the absence of abnormal organic acids in the initial urine screen and by normal serum folate level respectively. Screening of the 2 families identified excessive sarcosine in urine in 2 siblings, one from each family. However, these 2 siblings of indexed patients thus identified have no neurological or developmental problem. CONCLUSION: Our finding was consistent with the notion that sarcosinaemia is a benign condition picked up coincidentally during screening for mental retardation.

Gross motor skills of premature, very low-birthweight Chinese children.

We investigated whether premature, very low-birthweight (VLBW) Asian children without major handicap had poor motor skills compared with their normal birthweight counterparts. We compared a cohort of 42 preterm babies with birthweights <1500 g who participated in a developmental stimulation programme with 69 children of normal birthweight matched for age, gender and paternal education. VLBW children participated in the programme for 3 years and were followed to the age of 5-7 years. The VLBW cohort had significantly lower scores in B- and C-rated skills of the Peabody Developmental Motor Scales. Their total score was also significantly lower. This is in agreement with studies in other populations that found that VLBW children had lower motor scores and that early interventions failed to ameliorate this motor disadvantage.