جستجوی مقالات مرتبط با کلیدواژه "newborn screening" در نشریات گروه "پزشکی"

Amino acid analysis is an important tool for the diagnosis of metabolic disorders in newborns. Today, Liquid Chromatography tandem mass spectrometry (LC-MS/MS) has emerged as a powerful technique for amino acid analysis. We aimed to determine the local normal range of amino acids in dried blood spot (DBS) samples of neonates using LC-MS/MS.

A total of 1005 samples from healthy neonates of northeast and east of Iran aged 2-7 days were utilized for normal range determination. The amino acids were extracted from dried blood spot samples using organic solvent and then analyzed using LC-MS/MS system. The 1%, 2.5%, 97.5%, and 99% percentiles were calculated, and the results were compared to the global cut-off values.

The results showed that glutamic acid has the highest concentration range among amino acids evaluated in this study (178.94 – 421.31mmol/L). Moreover, the plasma concentrations of Glycine (142.65 – 397.06 mmol/L), Alanine (97.00–349.72 mmol/L), Proline (63.77 – 236.53 mmol/L), and Tyrosine (25.79 – 150.58 mmol/L) were in the next ranks. Comparing the obtained results with the global values obtained in the R4S study indicated a slight difference between the obtained local normal values and the global values.

The calculated values were slightly different from global values obtained in the R4S study and regional values calculated in other studies. This further emphasized the importance of the local establishment of reference values, which facilitates the correct interpretation and diagnosis in the Newborn Screening Programs.

In Permanent congenital hypothyroidism (PCH) is a lifelong condition characterized by a deficiency in thyroid hormone, leading to various neurodevelopmental complications. Early clinical signs are often nonspecific and easily overlooked, but newborn screening programs have improved early detection.

This narrative review aims to provide insights comparatively transient and permanent PCH and also the diagnosis, risk factors, underlying pathophysiology, and genetic causes associated with PCH. Relevant studies were identified through a comprehensive search using the term 'Permanent congenital hypothyroidism' (Mesh) across scientific databases of electronic databases such as PubMed, Scopus, and Web of Science.

Prompt initiation of thyroid hormone replacement therapy, particularly within the initial two weeks postpartum, crucially enhances neurocognitive development outcomes. Multiple predictive approaches, encompassing screening TSH levels, maternal thyroid history, and levothyroxine dosage per kilogram assessment, aid in identifying PCH. Recent studies have demonstrated a mounting prevalence of PCH, contributing significantly to the overall rise in CH incidence. Genetic factors, primarily DUOX2 and DUOXA2 mutations, alongside environmental influences such as post-term birth, low birth weight, and macrosomia, may induce PCH. Nonetheless, reliable markers for early PCH prediction upon diagnosis remain elusive, leading to delayed recognition post-ceasing levothyroxine treatment around age 3.

Recent studies have observed an increased incidence of PCH, contributing substantially to the overall rise in cases of congenital hypothyroidism. Understanding the diagnostic options and genetic etiologies associated with PCH is crucial for the early identification and appropriate management.

Acylcarnitine is one of the crucial markers of fatty acid metabolism, and examination of their level in infants can reveal several Inherited Metabolic Disorders (IDM) or Inborn errors of Metabolism (IEM). Because of the great importance of hereditary, metabolic, and other inherited disorders early diagnosis before the appearance of clinical symptoms, this study was carried out to establish a reference range for carnitine analytes and to identify acylcarnitine profiles in normal weight neonatal dried blood spots (DBS) specimens.

By using liquid chromatography tandem mass spectrometry (LC-MS/MS) for neonatal screening and eventually the examination and analysis of LC-MS/MS results, 34 acylcarnitine derivatives were identified.

The normal range for acylcarnitine analytes with carbon numbers ranging from zero to 18, both main and the branched ones, were ultimately measured. Afterward, they were compared with the results of some other diagnostic laboratories to be verified.

This study differed from the other findings, which could be due to diversity in population and work methods. However, the reference range of most acylcarnitine derivatives in Tehran closely aligned with this study's findings.

Congenital cytomegalovirus (cCMV) is the most common intrauterine viral infection, affecting up to 2.5% of live births worldwide; it is also the most common non-hereditary cause of sensorineural hearing loss (SNHL) in infants.

This study aimed to evaluate the frequency of cCMV and the incidence of sensorineural hearing loss at a large referral hospital in Tehran.

In our cross-sectional study, all infants born between March 2019 and April 2020 (one year) at Mahdiyeh Obstetrics and Gynecology Hospital were enrolled in the present study, and their urine samples were collected forCMVPCR in the first 2 days of life. PCR test results divided these infants into two groups, with and without congenital cytomegalovirus infection. For both groups, the otoacoustic emission screening test (OAE) was performed at birth and one month of age; the auditory brain response test (ABR) was then performed for infants with hearing impairment.

Urine samples of 859 were collected for cytomegalovirus PCR testing; 70.3% of specimens were from male infants. Neonatal urine samples were tested for the presence of cytomegalovirus by PCR; 847 of the specimens (98.6%) were negative, and 12 (1.4%) were positive for cytomegalovirus, CI: (95%). The prevalence of congenital cytomegalovirus infection was 1.18% in girls and 1.49% in boys, revealing no significant difference between the two groups. All infants with congenital cytomegalovirus infection were full-term, between 38 and 42 weeks of gestational age. The first OAE test was impaired in 4 cases (33%) with congenital cytomegalovirus infection.

In our study, congenital CMV infection prevalence was 1.4%. We recommend hearing screening tests (OAE and AABR) be performed for all neonates. If impaired, the infant should also be evaluated for cCMV infection in addition to auditory follow-up. It is recommended that this study be continued in a multicenter manner with a larger number of samples and a longer period to fully evaluate the prevalence of complications in cCMV.

Context:

There are severe and rare groups of genetic disorders due to defects in metabolic pathways, and they are generally called inborn errors of metabolism. Amino acids, as the building blocks of proteins, have many important structural and functional roles in the human body. The deficiencies of functional enzymes cause defects in metabolic pathways and lead to aminoacidopathies. The diagnosis of aminoacidopathies is challenging for most physicians, as they can present with multiple overlapping symptoms.

Evidence Acquisition: 

PubMed, Cochrane, Embase, and CINAHL were searched with MeSH terms: ‘inborn errors of metabolism’ OR ‘Metabolism, Inborn Errors’ (MeSH) AND ‘Humans’ (MeSH) AND ’Amino Acids/therapeutic use’[MeSH] AND ‘Newborn, Child’ (MeSH) OR ‘child’ OR ‘newborn’ AND "Neonatal Screening"[MeSH].

This study summarized some important issues, including clinical and laboratory diagnoses of phenylketonuria, tyrosinemia, methionine, homocysteine and cysteine, sulfite oxidase deficiency, molybdenum cofactor deficiency, tryptophan, glycine, hyperoxaluria, creatine deficiency disorders, serine, proline, glutamine, and urea cycle defect.

The prognosis of many metabolic disorders has improved due to recent advances in diagnosis and treatment. The biochemical knowledge of clinicians should be improved to comprehend metabolic disorders. As the diagnostic methods are based on organic acids in urine and acylcarnitine profile, it is necessary to enhance biochemistry knowledge to understand the logic.

The United Arab Emirates has been successfully identifying and rehabilitating children having congenital hearing loss. A dearth of published data regarding the newborn hearing screening programs in the country demands the current study. The study aimed to find incidence of hearing loss and impact of known risk factors for hearing loss in a cohort of newborn babies in a single tertiary hospital in the United Arab Emirates.

A retrospective analysis of hearing screening from January 2010 to December 2019 on a total of 37661 newborn babies were conducted using a screening protocol in auditory brainstem responses.

We report an overall incidence of 0.16% for congenital hearing loss in the current study population. Babies with prolonged stay in Newborn Intensive Care Unit (NICU) had an incidence of 0.87% and in babies with positive family history of hearing loss, it was as high as 2.2%. Chi square analysis revealed the significance of these risk factors (p<0.001). 72% (44.61) received hearing rehabilitation by being fitted with cochlear implants and hearing aids except in few having other comorbidities.

The newborn screening program has run a successful journey since the beginning in the country and the current study is an example. A majority of children identified has received early audiological rehabilitation helping the country in promoting inclusive education and better quality of life for them. Further studies may be implicated to see the outcome of early rehabilitation initiated in the identified population.

Phenylketonuria (PKU) is an autosomal recessive disorder that screening and timely control of this disorder can prevent the adverse effects. Regarding the high prevalence of PKU in Iran, the PKU screening program was started in Iran in 2006. This study was conducted to determine the cost-effectiveness of PKU screening in Iran.

An economic evaluation was performed among screened and treated individuals compared to no screening in 2013. The study population included 1356132 newborns that screened for PKU diagnosis. Lifetime costs, quality-adjusted life year (QALY) gains and incremental cost-effectiveness ratio (ICER) were calculated from the perspective of government. A discount rate of 3% was considered for both QALYs and costs. A one-way sensitivity analysis was used for assessing the robustness of the results.

The discounted lifetime cost of intervention and non-intervention were $59528953.8 and $85295501.6 respectively. Therefore, the total estimated cost saving was $25766547.84. PKU screening produces an ICER of $1844420 per QALY gained.

Screening and early treatment for PKU is highly cost-effective. Therefore, the screening can improve quality of life of the patients and increase financial saving in health system.

Context: 

Phenylketonuria (PKU) is the most frequent inborn error of metabolism, in which newborns cannot metabolize phenylalanine to tyrosine. Increased phenylalanine in untreated patients with PKU can cause serious intellectual disability; its onerous financial burden also falls on societies. This review study aimed to systematically indicate the frequency of PKU worldwide. We also intended to highlight the global prevalence of PKU, which might shed light on better clinical management and screening programs. 

In this systematic review, two electronic databases, including PubMed and ScienceDirect were searched for the related literature using relevant keywords: “Phenylketonuria” or “PKU” and “Prevalence” or “Incidence” and “Iran” or “Middle East” or “Europe” or “America” or “Asia.” Accordingly, 4306 reports conducted on PKU from January 2007 to December 2018 were retrieved. With the removal of 44 duplicated publications, 44 reports were included in the current systematic review. Prevalence and incidence rates were categorized based on different continents in which nations used various NBS programs to report the incidence and prevalence of PKU. Non-English, non-eligible, duplicated, animal, and in vitro studies are excluded.

Based on the reported quantitative data, the prevalence of PKU diagnosed worldwide ranged from 0.00044% to 0.02736% in which Italy possessed the highest prevalence; however, Thailand manifested the lowest prevalence rate. However, for some countries, such as India or Finland, either the related data to the frequency of PKU was outdated or overlooked applying any newborn screening programs respecting PKU. 

The current study revealed an elevated prevalence of PKU in Iran, compared with other Asian countries; thus, it demands a more serious management program. Moreover, the high prevalence of PKU in European countries should not be underestimated.

Congenital hypothyroidism (CH) is one of the most common treatable physical growth disorders leading to mental retardation. Most cases of this disease can be detected through the neonatal screening program. Given the high prevalence of this disease and the implementation of screening programs in recent years in Iran, this study aimed to assess the growth indices of newborns with CH.

In this retrospective cohort study, 66 newborns with CH detected in the screening program in Shahrekord were selected by a census sampling method. Overall, 125 healthy newborns were also selected as controls by the convenience sampling technique according to the inclusion and exclusion criteria. The height, weight, head circumference, and body mass index (BMI) of the samples were measured and then the mean, median, standard deviation, as well as the 3rd, 15th, 25th, 50th, 75th, 85th, and 97th percentiles in the two groups were determined and compared based on gender and age group.

The height, weight, head circumference, and BMI of the boys, in addition to the head circumference and BMI of the girls, were not significantly different from those of the controls (P>0.05). However, the height and weight of the girls were significantly lower compared to those in the control group, although the difference in the weight was corrected at the age of 9 months.

In general, the growth indices of newborns with CH were lower than those of the controls. This difference was significant only for the weight and height of girls with CH.

the risk of sickle cell complications that is a common hemoglobin disorder in Southwest Iran. This study aimed at determining the incidence of Sickle Cell Disease (SCD) and other Hemoglobinopathies in newborn being at risk based on ethnic origin.
In this descriptive epidemiologic study, between September 2013 and September 2015, 8363 newborn blood samples were tested in four maternity units from Ahvaz, Khoramshahr, Sosangerd and Dezful. Complete cell count and cellulose acetate electrophoresis at pH 8.4 were performed on each blood sample. Parent's clinical status was also checked for more information. Presence of an abnormal band in the EDTA treated samples were further confirmed by citrate agar gel electrophoresis and automated high performance liquid chromatography (HPLC). Results were analyzed statistically by the One-Way ANOVA analysis.
Among 8363 screened samples, 118 (1.41 %) samples were heterozygous for Hb S, and four (0.047%) for Hb C; none of newborns were Hb SS homozygotes. The incidence of silent and alpha thalassemia minor based on RBC indices was nearly 10%.
Present findings indicated the high quality and considerable impact of conducted screening program starting in 2007 at significantly decreasing the prevalence of SCD among newborns born between 2013 and 2015. The results also showed that the neonatal screening for SCD was not weighed to add as a new program in national health network.

Context: Neonatal mass screening program for congenital hypothyroidism provides the best tool for prevention of its devastating effects on mental development. Despite the overall success of the screening programs in detecting congenital hypothyroidism and eliminating its sequelae and new developments made in the program design, high recall rate and false positive results impose a great challenge worldwide. Lower recall rate and false positive results may properly organize project expenses by reducing the unnecessary repeated laboratory tests, increase physicians and parents’ assurance and cooperation, as well as reduce the psychological effects in families.
Evidence Acquisition: In this review, we assessed the recall rate in different programs and its risk factors worldwide.
Publications reporting the results of the CH screening program from 1997 to 2016 focusing on the recall rate have been searched.
Recall rates vary from 0.01% to 13.3% in different programs; this wide range may be due to different protocols of screening (use of T4 or TSH or both), different laboratory techniques, site of sample collection, recall cutoff, iodine status, human error, and even CH incidence as affected by social, cultural, and regional factors of the population.
It is suggested to implement suitable interventions to reduce the contributing factors by improving the quality of laboratory tests, selecting conservative cut off points, control iodine deficiency, use of iodine free antiseptic during delivery, and use of more specific markers or molecular tests. Applying an age dependent criteria for thyrotropin levels can be helpful in regions with a varied time of discharge after delivery or for preterm babies.

Galactosemia is a congenital metabolic disorder that can damage the health of a newborn. Screening is an important step to prevent and treat this condition. Due to increasing health care costs and limited financial resources of health systems, the most suitable economic analysis tool should be applied. The aim of this study was to analyze the cost-utility of neonatal screening program for diagnosing galactosemia in Fars province, Iran.
In this cross-sectional study and cost-utility analysis in the cost of screening for galactosemia and its financial effects, decision tree model and society’s viewpoint were used. The population of study was 81837 infants referred to Neonatal Screening Laboratory (Nader Kazemi Clinic) affiliated to Shiraz University of Medical Sciences (SUMS), Iran, in 2010. Quality of life in two groups of patients was evaluated by using the time trade-off. The best intervention option was selected by using the Incremental Cost-effectiveness Ratio.
The estimated cost of diagnosed through screening and without screening were 43519911 and 130011168 Iranian Rails (4222.00 $ and 12615.00 $), respectively. Therefore, there was a saving of 201443240.99 Iranian Rails (19641.00 $), for each patient annually.
The screening program can improve both the qualitative and quantitative lifestyle of people and increase savings in health care system. Policymakers could use the results to design new policies based on the necessity of screening.

Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and evaluation. There are major differences among many of the disorders being considered for inclusion in newborn screening programs. In recent times, advances in laboratory technology such as tandem mass spectrometry (MS/MS), which is more specific, sensitive, reliable, and comprehensive than traditional assays, has increased the number of genetic conditions that can be diagnosed through neonatal screening programs at birth. With a single dried filter paper blood spot, MS/MS can identify more than 30 inherited metabolic disorders in around two to three minutes. Advances in the diagnosis and treatment and an increased understanding of the natural history of inborn errors of metabolism have produced pressure to implement expanded newborn screening programs in many countries. Even as many countries throughout the world have made newborn screening mandatory, in Iran, nationwide newborn screening for inherited metabolic disorders other than hypothyroidism has not been initiated, hence, there is little information about these diseases. This article aims to review the recent advances in newborn metabolic screening and its situation in Iran and other countries.