2D/4D Finger Length Ratio in the Screening of Developmental Dysplasia of the Hip.

OBJECTIVE: To investigate whether there is a relationship between the 2nd finger and 4th finger length measurement ratios and developmental dysplasia of the Hip (DDH). STUDY DESIGN: Cross-sectional observational study. Place and Duration of the Study: Department of Orthopaedics and Traumatology, Meram Faculty of Medicine Hospital, Konya, Turkiye, from January 2020 to May 2023. METHODOLOGY: Infants were screened for DDH with Graff method for the ultrasounds of both hips. Lengths of the 2nd and 4th fingers of both hands were measured and recorded. Patients with additional risk factors for developmental dysplasia of the hip (breech birth, family history, oligohydramnios, swaddling) were excluded. RESULTS: Two hundred and fifty-six babies were screened including 55.1% (n = 141) girls and 44.9% (n = 115) boys. Their mean age was 2.51 ± 0.80 months. The average lengths were 31.73 ± 3.05 mm, for the left 2nd finger and 34.26 ± 3.48 mm for the left 4th finger. In the hip USG measurements, the mean alpha angles were 62.91 ± 3.12° for the right hip and, 63.20 ± 3.55° for the left hip. Eighteen (7%) of babies who underwent hip ultrasound (USG) had unilateral or bilateral DDH. Among these cases, 2.7% (n = 7) had right, 2.3% (n = 6) had left, and 2% (n = 5) had bilateral DDH. There was no statistically significant correlation between the ratios of right 2/4 finger lengths and the right alpha angle (rs = 0.051; p = 0.421). There was a statistically positive and statistically significant correlation between the ratios of left 2/4 finger lengths and the left alpha angle (rs = 0.154; p = 0.013). CONCLUSION: Only the left-hand finger ratio among the parameters in the model had a statistically significant effect on DDH. Therefore, the left hand 2D/4D finger length may be of value in screening for DDH. KEY WORDS: Developmental dysplasia of the hip, Second to fourth finger digit ratio, Ring finger, Digit ratios.

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States.

Homozygous familial hypercholesterolemia (HoFH) is an ultra-rare inherited condition that affects approximately one in 300,000 people. The disorder is characterized by extremely high, life-threatening levels of low-density lipoprotein (LDL) cholesterol from birth, leading to significant premature cardiovascular morbidity and mortality, if left untreated. Homozygous familial hypercholesterolemia is severely underdiagnosed and undertreated in the United States (US), despite guidelines recommendations for universal pediatric lipid screening in children aged 9-11. Early diagnosis and adequate treatment are critical in averting premature cardiovascular disease in individuals affected by HoFH. Yet, an unacceptably high number of people living with HoFH remain undiagnosed, misdiagnosed, and/or receive a late diagnosis, often after a major cardiovascular event. The emergence of novel lipid-lowering therapies, along with the realization that diagnosis is too often delayed, have highlighted an urgency to implement policies that ensure timely detection of HoFH in the US. Evidence from around the world suggests that a combination of universal pediatric screening and cascade screening strategies constitutes an effective approach to identifying heterozygous familial hypercholesterolemia (HeFH). Nevertheless, HoFH and its complications manifest much earlier in life compared to HeFH. To date, little focus has been placed on the detection of HoFH in very young children and/or infants. The 2023 Updated European Atherosclerosis Society Consensus Statement on HoFH has recommended, for the first time, broadening pediatric guidelines to include lipid screening of newborn infants. Some unique aspects of HoFH need to be considered before implementing newborn screening. As such, insights from pilot studies conducted in Europe may provide some preliminary guidance. Our paper proposes a set of actionable measures that states can implement to reduce the burden of HoFH. It also outlines key research and policy gaps that need to be addressed in order to pave the way for universal newborn screening of HoFH in the US.

Neonatal jaundice detection in low-resource Mexican settings: possibilities and barriers for innovation with mobile health.

BACKGROUND: Neonatal jaundice is a common condition that can lead to brain damage and disabilities when severe cases go undetected. Low- and middle-income countries often lack accurate methods for detecting neonatal jaundice and rely on visual assessment, resulting in a higher incidence of adverse consequences. Picterus Jaundice Pro (Picterus JP), an easy-to-use and affordable smartphone-based screening device for the condition, has demonstrated higher accuracy than visual assessment in Norwegian, Philippine and Mexican newborns. This study aimed to identify the barriers and facilitators to implementing Picterus JP in public health services in low-income settings in Mexico by exploring the current process of neonatal jaundice detection and stakeholders' perspectives in that context. METHODS: Qualitative data collection techniques, including one focus group, 15 semi-structured interviews and four observations, were employed in urban and rural health facilities in Oaxaca, Mexico. The participants included medical doctors, nurses and health administrators. The data were analysed by thematic analysis guided by the Consolidated Framework for Implementation Research. RESULTS: The analysis yielded four main themes: (I) the current state of neonatal care and NNJ detection, (II) the needs and desires for enhancing NNJ detection, (III) the barriers and facilitators to implementing Picterus JP in the health system and (IV) HCWs' expectations of Picterus JP. The findings identify deficiencies in the current neonatal jaundice detection process and the participants' desire for a more accurate method. Picterus JP was perceived as easy to use, useful and compatible with the work routine, but barriers to adoption were identified, including internet deficiencies and costs. CONCLUSIONS: The introduction of Picterus JP as a supporting tool to screen for neonatal jaundice is promising but contextual barriers in the setting must be addressed for successful implementation. There is also an opportunity to optimise visual assessment to improve detection of neonatal jaundice.

Covid-19 infection in pregnant women: Auditory evaluation in infants.

 Recent studies showed that COVID-19 infection can affect cochleo-vestibular system. The possibility of a vertical transmission is controversial. Some studies suggested that it is possible but unlikely, others find no evidence of vertical transmission. The objective of this study was to investigate whether exposure to COVID-19 during pregnancy or at birth has an impact on the hearing of the offspring. As part of the national hearing screening program, we performed in all newborns between January 2022 and February 2023, TEOAEs (Transient Evoked Otoacoustic Emissions) at birth and at 3 months. For those "REFER" at the third month test, we performed aABR (Automatic Auditory Brainstem Response) at 6 months. We analysed separately result between infants born to COVID-positive mothers during pregnancy and those born to COVID-negative mothers. To statistical verify differences we performed "Chi-square test". We enrolled a total of 157 infants, of whom 16 were born to mothers who had a molecular PCR test positive for COVID-19. In the latter we tested a total of 32 ears and only 1 ear (3,1%) resulted "REFER". On the other hand, in the control group we tested a total of 282 ears and 22 (7,8%) were found to be "REFER". Our study showed no significant differences in audiological assessment between newborns exposed to COVID-19 infection during pregnancy or at birth compared to the unexposed group. However, further studies with a larger patient's sample will be necessary for a more comprehensive evaluation.

A "twelve-section ultrasonic screening and diagnosis method" and management system for screening and treating neonatal congenital heart disease at the grassroots level in Tang County, Hebei Province, China.

BACKGROUND: To explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a hierarchical management system for CHD screening and treatment at the grassroots level. METHODS: A total of 24,253 newborns born in Tang County between January 2016 and December 2020 were consecutively enrolled and screened by trained primary physicians via the "twelve-section ultrasonic screening and diagnosis method" (referred to as the "twelve-section method"). Specialized staff from the CHD Screening and Diagnosis Center of Hebei Children's Hospital regularly visited the local area for definite diagnosis of CHD in newborns who screened positive. Newborns with CHD were managed according to the hierarchical management system. RESULTS: The centre confirmed that, except for 2 newborns with patent ductus arteriosus missed in the diagnosis of ventricular septal defect combined with severe pulmonary hypertension, newborns with other isolated or concomitant simple CHDs were identified at the grassroots level. The sensitivity, specificity and diagnostic coincidence rate of the twelve-section method for screening complex CHD were 92%, 99.6% and 84%, respectively. A total of 301 children with CHD were identified. The overall CHD prevalence was 12.4‰. According to the hierarchical management system, 113 patients with simple CHD recovered spontaneously during local follow-up, 48 patients continued local follow-up, 106 patients were referred to the centre for surgery (including 17 patients with severe CHD and 89 patients with progressive CHD), 1 patient died without surgery, and 8 patients were lost to follow-up. Eighteen patients with complex CHD were directly referred to the centre for surgery, 3 patients died without surgery, and 4 patients were lost to follow-up. Most patients who received early intervention achieved satisfactory results. The mortality rate of CHD was approximately 28.86 per 100,000 children. CONCLUSIONS: The "twelve-section method" is suitable for screening neonatal CHD at the grassroots level. The establishment of a hierarchical management system for CHD screening and treatment is conducive to the scientific management of CHD, which has important clinical and social significance for early detection, early intervention, reduction in mortality and improvement of the prognosis of complex and severe CHDs.

Determination of birth prevalence of sickle cell disease using point of care test HemotypeSC™ at Rundu Hospital, Namibia.

BACKGROUND: Sickle cell disease (SCD), a noncommunicable disease, has the greatest burden in sub-Saharan Africa. The majority of children (50-90%) with SCD die before their 5th birthday, with approximately 150,000-300,000 annual SCD child deaths in Africa. In developed countries, newborn screening (NBS) has been shown to improve the survival of children with sickle cell disease, with under5 childhood mortality reduced tenfold due to interventions performed before the development of complications. Point -of-care tests have been developed for resource limited settings to expand NBS. The aim of this study was to determine the birth prevalence of sickle cell disease in Namibia using the HemoTypeSC™ point-of-care test. METHODS: A cross-sectional descriptive study was carried out at Rundu Intermediate Hospital in the Kavango East Region. Two hundred and two (202) well newborns within 72 h of birth were recruited for the study from 22 February to the 23th March 2023. Descriptive statistics were used to compute the haemoglobin types of the study participants. RESULTS: The majority of the participants (n = 105, 52%) were females, and (n = 97,48%) were males. The median age of the participants was 23 h (Q1, Q3; 11; 33),) with an age range of 2-98 h. Sickle cell trait was present in 9.4% of the screened newborns, no homozygous disease was detected, and 90.6% had Hb AA. CONCLUSIONS: This study is the first to measure HbS gene carriage at birth using HemotypeSC point-of-care testing in Namibia. There was a moderate prevalence of sickle cell traits but no SCD. This baseline study may provide the foundation for larger epidemiological surveys to map HbS gene carriage in Namibia to provide evidence for policy makers to fashion appropriate SCD newborn screening services.

Validation of postnatal growth and retinopathy of prematurity (G-ROP) screening guidelines in a tertiary care hospital of Pakistan: A report from low-middle income country.

Retinopathy of Prematurity (ROP) significantly contributes to childhood blindness globally, with a disproportionately high burden in low- and middle-income countries (LMICs) due to improved neonatal care alongside inadequate ROP screening and treatment facilities. This study aims to validate the performance of Postnatal Growth and Retinopathy of Prematurity (G-ROP) screening criteria in a cohort of premature infants presenting at a tertiary care setting in Pakistan. This cross-sectional study utilized retrospective chart review of neonates admitted to the neonatal intensive care unit (NICU) at The Aga Khan University Hospital, Pakistan from January 2018 to February 2022. The complete G-ROP criteria were applied as prediction tool for infants with type 1 ROP, type 2 ROP, and no ROP outcomes. Out of the 166 cases, 125 cases were included in the final analysis, and remaining cases were excluded due to incomplete data. ROP of any stage developed in 83 infants (66.4%), of whom 55 (44%) developed type 1 ROP, 28 (22.4%) developed type 2 ROP, and 19 (15.2%) were treated for ROP. The median BW was 1060 gm (IQR = 910 to 1240 gm) and the median gestational age was 29 wk (IQR = 27 to 30 wk). The G-ROP criteria demonstrated a sensitivity of 98.18% (95% CI: 90.28-99.95%) for triggering an alarm for type 1 ROP. The G-ROP criteria achieved 100% sensitivity (95% CI: 87.66 to 100%) for type 2 ROP. The overall sensitivity of G-ROP criteria to trigger an alarm for any type of ROP was 98.8% (95% CI: 93.47 to 99.97%). Thus, the G-ROP screening model is highly sensitive in detecting at-risk infants for ROP in a Pakistani tertiary care setting, supporting its use in LMICs where standard screening criteria may not suffice.

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

INTRODUCTION: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. MATERIAL: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L. RESULTS: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life. CONCLUSIONS: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening.

Comparative analysis of the quantitative point-of-care CareSTART™ total bilirubin with central laboratory total bilirubin assays in neonatal blood samples.

This study aimed to assess and compare the accuracy of point-of-care CareSTART™ S1 Total Bilirubin test with a central laboratory total bilirubin assay using neonatal samples. This study was conducted using 152 paired measurements obtained from 122 neonates admitted to the neonatal intensive care unit. Total serum bilirubin (TSB) levels assayed with the central laboratory assay, laboratory bilirubinomter, trancutaneous bliribubin (TcB) instrument and CareSTART were compared using Bland-Altman analysis. The mean difference between the CareSTART and TSB values was -1.43 mg/dL and the 95% limit of agreement (LoA) was -4.25 to 1.39 mg/dL. CareSTART tended to underestimate total bilirubin concentrations compared with TcB, however, the LoA was narrower due to the smaller SD of mean difference for CareSTART. The CareSTART Total Bilirubin test provides an accurate alternative to TcB for total serum bilirubin measurement. Given its low-cost, ease-of-use, and portability, the use of CareSTART is expected to provide point-of-care measurements, especially in low-resource settings.

Genetic Screening-Emerging Issues.

In many countries, some form of genetic screening is offered to all or part of the population, either in the form of well-organized screening programs or in a less formalized way. Screening can be offered at different phases of life, such as preconception, prenatal, neonatal and later in life. Screening should only be offered if the advantages outweigh the disadvantages. Technical innovations in testing and treatment are driving changes in the field of prenatal and neonatal screening, where many jurisdictions have organized population-based screening programs. As a result, a greater number and wider range of conditions are being added to the programs, which can benefit couples' reproductive autonomy (preconception and prenatal screening) and improve early diagnosis to prevent irreversible health damage in children (neonatal screening) and in adults (cancer and cascade screening). While many developments in screening are technology-driven, citizens may also express a demand for innovation in screening, as was the case with non-invasive prenatal testing. Relatively new emerging issues for genetic screening, especially if testing is performed using DNA sequencing, relate to organization, data storage and interpretation, benefit-harm ratio and distributive justice, information provision and follow-up, all connected to acceptability in current healthcare systems.

Universal and Expanded Screening Strategy for Congenital Cytomegalovirus Infection: Is Pool Testing by a Rapid Molecular Test in Saliva a New Choice in Developing Countries?

BACKGROUND: Several screening strategies for identifying congenital CMV (cCMV) have been proposed; however, the optimal solution has yet to be determined. We aimed to determine the prevalence of cCMV by universal screening with saliva pool testing and to identify the clinical variables associated with a higher risk of cCMV to optimize an expanded screening strategy. METHODS: We carried out a prospective universal cCMV screening (September/2022 to August/2023) of 2186 newborns, analyzing saliva samples in pools of five (Alethia-LAMP-CMV®) and then performed confirmatory urine CMV RT-PCR. Infants with risk factors (small for gestational age, failed hearing screening, HIV-exposed, born to immunosuppressed mothers, or <1000 g birth weight) underwent expanded screening. Multivariate analyses were used to assess the association with maternal/neonatal variables. RESULTS: We identified 10 infants with cCMV (prevalence: 0.46%, 95% CI 0.22-0.84), with significantly higher rates (2.1%, 95% CI 0.58-5.3) in the high-risk group (p = 0.04). False positives occurred in 0.09% of cases. No significant differences in maternal/neonatal characteristics were observed, except for a higher prevalence among infants born to non-Chilean mothers (p = 0.034), notably those born to Haitian mothers (1.5%, 95% CI 0.31-4.34), who had higher odds of cCMV (OR 6.82, 95% CI 1.23-37.9, p = 0.04). Incorporating maternal nationality improved predictive accuracy (AUC: 0.65 to 0.83). CONCLUSIONS: For low-prevalence diseases such as cCMV, universal screening with pool testing in saliva represents an optimal and cost-effective approach to enhance diagnosis in asymptomatic patients. An expanded screening strategy considering maternal nationality could be beneficial in resource-limited settings.

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Importance: Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese population, and subclinical forms of diseases among patients identified by NBS have not been evaluated. Objective: To evaluate the birth prevalence of the 6 LSDs in the Shanghai population and determine subclinical forms based on clinical, biochemical, and genetic characteristics. Design, Setting, and Participants: This cohort study included 50 108 newborns recruited from 41 hospitals in Shanghai between January and December 2021 who were screened for 6 LSDs using tandem mass spectrometry (MS/MS). Participants with screen-positive results underwent molecular and biochemical tests and clinical assessments. Data were analyzed from January 2021 through October 2022. Exposures: All participants were screened for Gaucher, acid sphingomyelinase deficiency (ASMD), Krabbe, mucopolysaccharidosis type I, Fabry, and Pompe diseases using dried blood spots. Main Outcomes and Measures: Primary outcomes were the birth prevalence and subclinical forms of the 6 LSDs in the Shanghai population. Disease biomarker measurements, genetic testing, and clinical analysis were used to assess clinical forms of LSDs screened. Results: Among 50 108 newborns (26 036 male [52.0%]; mean [SD] gestational age, 38.8 [1.6] weeks), the mean (SD) birth weight was 3257 (487) g. The MS/MS-based NBS identified 353 newborns who were positive. Of these, 27 newborns (7.7%) were diagnosed with 1 of 6 LSDs screened, including 2 newborns with Gaucher, 5 newborns with ASMD, 9 newborns with Krabbe, 8 newborns with Fabry, and 3 newborns with Pompe disease. The combined birth prevalence of LSDs in Shanghai was 1 diagnosis in 1856 live births, with Krabbe disease the most common (1 diagnosis/5568 live births), followed by Fabry disease (1 diagnosis/6264 live births), and ASMD (1 diagnosis/10 022 live births). Biochemical, molecular, and clinical analysis showed that early-onset clinical forms accounted for 3 newborns with positive results (11.1%), while later-onset forms represented nearly 90% of diagnoses (24 newborns [88.9%]). Conclusions and Relevance: In this study, the combined birth prevalence of the 6 LSDs in Shanghai was remarkably high. MS/MS-based newborn screening, combined with biochemical and molecular genetic analysis, successfully identified and characterized newborns who were screen-positive, which may assist with parental counseling and management decisions.

Transcutaneous bilirubinometry for detecting jaundice in term or late preterm neonates.

BACKGROUND: The American Academy of Pediatrics and the Canadian Paediatric Society both advise that all newborns should undergo bilirubin screening before leaving the hospital, and this has become the standard practice in both countries. However, the US Preventive Task Force has found no strong evidence to suggest that this practice of universal screening for bilirubin reduces the occurrence of significant outcomes such as bilirubin-induced neurologic dysfunction or kernicterus. OBJECTIVES: To evaluate the effectiveness of transcutaneous screening compared to visual inspection for hyperbilirubinemia to prevent the readmission of newborns (infants greater than 35 weeks' gestation) for phototherapy. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, CINAHL, ClinicalTrials.gov, ICTRP, and ISRCTN in June 2023. We also searched conference proceedings, and the reference lists of included studies. SELECTION CRITERIA: We included randomized controlled trials (RCTs), quasi-randomized, cluster-randomized, or prospective cohort studies with control arm that evaluated the use of transcutaneous bilirubin (TcB) screening for hyperbilirubinemia in newborns before hospital discharge. DATA COLLECTION AND ANALYSIS: We used standard methodologic procedures expected by Cochrane. We evaluated treatment effects using a fixed-effect model with risk ratio (RR) and 95% confidence intervals (CI) for categorical data and mean, standard deviation (SD), and mean difference (MD) for continuous data. We used the GRADE approach to evaluate the certainty of evidence. MAIN RESULTS: We identified one RCT (1858 participants) that met our inclusion criteria. The study included 1858 African newborns at 35 weeks' gestation or greater who were receiving routine care at a well-baby nursery, and were randomly recruited prior to discharge to undergo TcB screening. The study had good methodologic quality. TcB screening versus visual assessment of hyperbilirubinemia in newborns: - may reduce readmission to the hospital for hyperbilirubinemia (RR 0.25, 95% CI 0.14 to 0.46; P < 0.0001; moderate-certainty evidence); - probably has little or no effect on the rate of exchange transfusion (RR 0.20, 95% CI 0.01 to 14.16; low-certainty evidence); - may increase the number of newborns who require phototherapy prior to discharge (RR 2.67, 95% CI 1.56 to 4.55; moderate-certainty evidence). - probably has little or no effect on the rate of acute bilirubin encephalopathy (RR 0.33, 95% CI 0.01 to 8.18; low-certainty evidence). The study did not evaluate or report cost of care. AUTHORS' CONCLUSIONS: Moderate-certainty evidence suggests that TcB screening may reduce readmission for hyperbilirubinemia compared to visual inspection. Low-certainty evidence also suggests that TcB screening probably has little or no effect on the rate of exchange transfusion compared to visual inspection. However, moderate-certainty evidence suggests that TcB screening may increase the number of newborns that require phototherapy before discharge compared to visual inspection. Low-certainty evidence suggests that TcB screening probably has little or no effect on the rate of acute bilirubin encephalopathy compared to visual inspection. Given that we have only identified one RCT, further studies are necessary to determine whether TcB screening can help to reduce readmission and complications related to neonatal hyperbilirubinemia. In settings with limited newborn follow-up after hospital discharge, identifying newborns at risk of severe hyperbilirubinemia before hospital discharge will be important to plan targeted follow-up of these infants.

Neonatal screening of ABO/RhD blood group and direct antiglobulin Coombs test. Experience of a single institution.

BACKGROUND: Evaluating the ABO/RhD blood group and the direct antiglobulin Coombs test (DAT) at birth is recommended good practice, but there is variability in its universal implementation. This study aims to show the comparative results in various variables of clinical impact during the hospital stay of neonates with positive DAT compared with those with negative DAT, based on the systematic detection of the ABO/RhD group and DAT at birth. METHODS: Newborns between 2017 and 2020 in a high-risk pregnancy care hospital were included. The ABO/RhD and DAT group was determined in umbilical cord samples or the first 24 hours of life. Demographic, maternal, and neonatal variables were recorded. The association between the variables was estimated using the odds ratio (OR). RESULTS: 8721 pairs were included. The DAT was positive in 239 newborns (2.7%), with the variables associated with positive PDC being maternal age > 40 years (OR: 1.5; 95% CI: 1.0 to 2.3), birth by cesarean section (1.4; 1.1-2.0), mother group O (6.4; 3.8-11.8), prematurity (3.6; 2.6-5.0), birth weight < 2500 g (2.1; 1.6-2.8), newborn group A (15.7; 10.7-23.1) and group B (17.6; 11.4-27.2), hemoglobin at birth < 13.5 g/dl (4.5; 2.8-7.1) and reticulocytosis > 9% (1.9; 1.2 to 3.1). DISCUSSION: The frequency of neonatal positive PDC was 2.7%, with a significant association with maternal/neonatal incompatibility to the ABO and RhD group, with a substantial impact on various neonatal variables. These results support the policy of universal implementation at the birth of the ABO/RhD and DAT determination.

INTRODUCCIÓN: La determinación del grupo sanguíneo ABO/RhD y la prueba directa de Coombs (PDC) al nacimiento son una práctica recomendada, pero existe variabilidad en su implementación universal. Se presentan los resultados de la determinación al nacimiento del grupo ABO/RhD y la PDC en una cohorte institucional. MÉTODOS: Se incluyeron los recién nacidos entre 2017 y 2020 en un hospital de atención a embarazos de alto riesgo. Se determinó el grupo ABO/RhD y se realizó la PDC en muestras de cordón umbilical o en las primeras 24 horas de vida. Se registraron las variables demográficas, maternas y neonatales. Se estimó la asociación entre las variables mediante la razón de probabilidad (OR). RESULTADOS: Se incluyeron 8721 binomios. La PDC fue positiva en 239 recién nacidos (2.7%), siendo las variables asociadas a la PDC positiva la edad materna > 40 años (OR: 1.5;IC95%: 1.0-2.3), el nacimiento por vía cesárea (1.4; 1.1-2.0), la madre del grupo O (6.4; 3.8-11.8), la prematuridad (3.6; 2.6-5.0); el peso al nacer < 2500 g (2.1; 1.6-2.8); el neonato del grupo A (15.7; 10.7-23.1) o del grupo B (17.6; 11.4-27.2), la hemoglobina al nacer < 13.5 g/dl (4.5; 2.8-7.1) y la reticulocitosis > 9% (1.9; 1.2 a 3.1). DISCUSIÓN: La frecuencia de PDC positiva neonatal es del 2.7%, con asociación significativa la incompatibilidad materna/neonatal al grupo ABO y RhD, con impacto significativo en diversas variables neonatales. Estos resultados apoyan la política de implementación universal al nacimiento de la determinación de ABO/RhD y PDC.

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.

BACKGROUND: There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This programme currently screens for 26 IEMs in dried blood and urine samples collected 24-72 h after birth. RESULTS: In its 22-year history, this programme has analysed samples from 440,723 neonates and identified 326 cases of IEM with a prevalence of 1:1351. The most prevalent IEMs were hyperphenylalaninaemia (n = 118), followed by medium chain acyl-CoA dehydrogenase deficiency (MCADD, n = 26), galactosaemia (n = 20), and cystinurias (n = 43). Sixty-one false positives and 18 conditions related to maternal pathologies were detected. Urine samples have been identified as a useful secondary sample to reduce the rate of false positives and identify new defects. There were 5 false negatives. The overall positive value was 84.23%. The fatality rate over a median of 12.1 years of follow-up was 2.76%. The intelligence quotient of patients was normal in 95.7% of cases, and school performance was largely optimal, with pedagogic special needs assistance required in < 10% of cases. Clinical onset of disease preceded diagnosis in 4% of cases. The age at which first NBS report is performed was reduced by 4 days since 2021. CONCLUSIONS: This study highlights the benefits of collecting urine samples, reduce NBS reporting time and expanding the number of IEMs included in NBS programmes.

Results of a Pilot External Quality Assessment Scheme for Genetic Testing of Newborns with Spinal Muscular Atrophy.

BACKGROUND: This study aims to evaluate the ability of laboratories to perform spinal muscular atrophy (SMA) genetic testing in newborns based on dried blood spot (DBS) samples, and to provide reference data and advance preparation for establishing the pilot external quality assessment (EQA) scheme for SMA genetic testing of newborns in China. METHODS: The pilot EQA scheme contents and evaluation principles of this project were designed by National Center for Clinical Laboratories (NCCL), National Health Commission. Two surveys were carried out in 2022, and 5 batches of blood spots were submitted to the participating laboratory each time. All participating laboratories conducted testing upon receiving samples, and test results were submitted to NCCL within the specified date. RESULTS: The return rates were 75.0% (21/28) and 95.2% (20/21) in the first and second surveys, respectively. The total return rate of the two examinations was 83.7% (41/49). Nineteen laboratories (19/21, 90.5%) had a full score passing on the first survey, while in the second survey twenty laboratories (20/20, 100%) scored full. CONCLUSIONS: This pilot EQA survey provides a preliminary understanding of the capability of SMA genetic testing for newborns across laboratories in China. A few laboratories had technical or operational problems in testing. It is, therefore, of importance to strengthen laboratory management and to improve testing capacity for the establishment of a national EQA scheme for newborn SMA genetic testing.

[Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou].

OBJECTIVE: To analyze the types and distribution of pathogenic variants for neonatal genetic diseases in Huzhou, Zhejiang Province. METHODS: One thousand neonates (48 ~ 42 h after birth) born to Huzhou region were selected as the study subjects. Dry blood spot samples were collected from the newborns, and targeted capture high-throughput sequencing was carried out for pathogenic genes underlying 542 inherited diseases. Candidate variants were verified by Sanger sequencing. RESULTS: Among the 1 000 newborns, the male to female ratio was 1.02 : 1.00. No pathogenic variants were detected in 253 cases, whilst 747 cases were found to carry at least one pathogenic variant, which yielded a carrier rate of 74.7%. The most frequently involved pathogenic gene was FLG, followed by GJB2, UGT1A1, USH2A and DUOX2. The variants were classified as homozygous, compound heterozygous, and hemizygous variants. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), 213 neonates were verified to have carried pathogenic and/or likely pathogenic variants, with a positive rate of 21.3%. The most commonly involved genes had included UGT1A1, FLG, GJB2, MEFV and G6PD. CONCLUSION: Newborn screening based on high-throughput sequencing technology can expand the scope of screening and improve the positive predictive value. Genetic counseling based on the results can improve the patients' medical care and reduce neonatal mortality and childhood morbidity, while provide assistance to family members' health management and reproductive decisions.

Health education to promote knowledge about sickle cell disease and newborn screening in pregnant women: a community-based pilot study using the healthy beginning initiative.

BACKGROUND: Pregnancy presents a critical period for any maternal and child health intervention that may impact the health of the newborn. With low antenatal care attendance by pregnant women in health facilities in Nigeria, community-based programs could enable increased reach for health education about sickle cell disease (SCD) and newborn screening (NBS) among pregnant women. This pilot study aimed to assess the effect of education on the knowledge about SCD and NBS among pregnant women using the Healthy Beginning Initiative, a community-based framework. METHODS: A pre-post study design was used to evaluate knowledge of SCD and NBS in a convenience sample of 89 consenting pregnant women from three communities. Participants were given surveys prior to and following completion of a health education session. McNemar's test was used to compare the proportion of participants with correct responses. The level of significance was taken as p < 0.05. RESULTS: Compared to pre-test values, post-test values showed that participants understood that SCD is hereditary (93.3% vs. 69.7%), both parents must have at least one gene for someone to have SCD (98.9% vs. 77.5) and blood test is the right way to know if one has SCD (98.8% vs. 78.7%). Also, a large proportion of participants (post-test ~ 89.9%; compared to pre-test ~ 23.6%) understood that the chance of conceiving a child with SCD was 25% for a couple with the sickle cell trait (SCT). Knowledge of the possibility of diagnosing SCD shortly after birth was highly increased in the post test phase of the study when compared to the pre-test phase (93.3% vs. 43.9%, respectively). Concerning the overall knowledge scores, those with high level of knowledge significantly increase from 12.6% pretest to 87.4% posttest (p = 0.015). CONCLUSION: The health education intervention was associated with significant improvement on almost all measures of SCD knowledge. Focused health education for pregnant women using community structures can improve knowledge of SCD and NBS.

Risk factor-based models to predict severe retinopathy of prematurity in preterm Thai infants.

PURPOSE: To develop prediction models for severe retinopathy of prematurity (ROP) based on risk factors in preterm Thai infants to reduce unnecessary eye examinations in low-risk infants. METHODS: This retrospective cohort study included preterm infants screened for ROP in a tertiary hospital in Bangkok, Thailand, between September 2009 and December 2020. A predictive score model and a risk factor-based algorithm were developed based on the risk factors identified by a multivariate logistic regression analysis. Validity scores, and corresponding 95% confidence intervals (CIs), were reported. RESULTS: The mean gestational age and birth weight (standard deviation) of 845 enrolled infants were 30.3 (2.6) weeks and 1264.9 (398.1) g, respectively. The prevalence of ROP was 26.2%. Independent risk factors across models included gestational age, birth weight, no antenatal steroid use, postnatal steroid use, duration of oxygen supplementation, and weight gain during the first 4 weeks of life. The predictive score had a sensitivity (95% CI) of 92.2% (83.0, 96.6), negative predictive value (NPV) of 99.2% (98.1, 99.6), and negative likelihood ratio (NLR) of 0.1. The risk factor-based algorithm revealed a sensitivity of 100% (94, 100), NPV of 100% (99, 100), and NLR of 0. Similar validity was observed when "any oxygen supplementation" replaced "duration of oxygen supplementation." Predictive score, unmodified, and modified algorithms reduced eye examinations by 71%, 43%, and 16%, respectively. CONCLUSIONS: Our risk factor-based algorithm offered an efficient approach to reducing unnecessary eye examinations while maintaining the safety of infants at risk of severe ROP. Prospective validation of the model is required.

Newborn Screening Has Moved Way Beyond PKU.

Nurses need to understand how clinical genetic and genomic applications affect newborn screening and advocate for parents and newborns.