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Pregnant women and their infants are a vulnerable but neglected population in tuberculosis (TB) control efforts. Recent advances in TB prevention, diagnosis and treatment have implications for their care, despite their frequent exclusion from research. We have conducted a meta-review of current evidence and clinical guidelines for TB prevention, diagnosis and management in pregnant women and neonates, focusing on review articles published since 2010. The actual burden of TB in pregnancy is unmeasured, but has been estimated at 216,500 cases per year. Although the effect of pregnancy on TB risk is uncertain and controversial, two large whole-of-population studies found that pregnancy was associated with a two- to three-fold increase in risk of TB. Congenital TB is rare but extremely serious. Neonates exposed to TB after delivery will be at high risk of disease, and preventive therapy is recommended once disease has been ruled out. At present, there is limited evidence regarding the performance of different screening strategies for pregnant women, appropriate drug dosing for either pregnant women or neonates, and the safety of most second-line drugs in pregnancy. High quality evidence on these topics is needed, as are detailed guidelines to inform efforts by TB control programs and clinicians working with pregnant women and their infants. [ABSTRACT FROM AUTHOR]

Hearing is one of the most important sense organs for man. Hearing loss is often associated with delayed speech and language development in young children. Early identification and intervention improves the chance a child gets to lesser delays in development and improving the overall quality of life. To find out the prevalence of hearing loss in neonates in the rural taluka of Maval, Pune, Maharashtra, India. Prospective Non Randomized Clinical Study. The study was carried out between April 2012 and April 2015. A total of 8192 babies were screened across various centers around the Maval area. The babies who had some high risk factors were 1683 in number and babies who had no high risk factors i.e. well babies were 6509. In our study, the overall prevalence of hearing loss in neonates in Maval taluka of Maharashtra was found to be 3.54 per 1000 live births, in normal born neonates (well babies) was 1.689 per 1000 births, in high risk babies was 10.69 per 1000 high risk births. The prevalence of low birth weight neonates, hyperbilirubinemia neonates and neonates with craniofacial abnormalities developing hearing impairment was found to be 5.9, 3.56 and 1.18 per 1000 high risk births respectively. India is the second most populated country in the world with nearly a fifth of the world’s population. There is a need for the universal neonatal screening for deafness for earlier detection of deafness and rehabilitation.Level of Evidence: Level IV. [ABSTRACT FROM AUTHOR]

Aim: There is no evidence on the effect of universal ultrasound screening on developmental dysplasia of the hip. We examined the impact of adding an ultrasound examination to a one examiner clinical screening strategy on treatment, follow-up rates and the number of cases detected late in a low-prevalence population.Methods: All eligible babies born at Kongsberg Hospital, Norway, from 1998 to 2006 (n = 4245) underwent both clinical and ultrasound hip examinations within three days of life. Indications for immediate treatment were positive Barlow or Ortolani manoeuvres and, or, sonographic dysplasia. Sonographic immature hips were followed until normalisation. Treatment rates and rates from the 1989 to 1997 prestudy period (n = 3594), including late diagnoses, were collected from hospital records.Results: Treatment was initiated in 90 (2.1%) infants (74 girls), 63 (70%) from birth, compared to 33 (0.9%) during the prestudy period. The follow-up rate did not change (11%). There were two (0.5/1000) and four (1.0/1000) cases detected late, respectively. No one underwent surgery during the first year of life and no avascular necrosis was seen.Conclusion: Adding universal ultrasound to clinical screening performed by the same, experienced paediatrician doubled the treatment rate, without influencing the already low numbers of late cases. [ABSTRACT FROM AUTHOR]

Background: despite the worldwide recognition of the importance of pre-screening education of parents, the current body of evidence suggests that parents often receive little information about neonatal screening (NS) and may even be unaware about the screening of their baby. Aim of the work: this study aimed to assess the attitudes and knowledge of the Saudi women towards the NS program and their psychological impact. Methods: we performed a cross-sectional study on mothers during the postpartum hospitalization period at health care facilities in the Eastern Region of the Kingdom of Saudi Arabia. A modified version of the Maternal Attitudes and Knowledge about Newborn Screening Survey was used to assess the attitudes and knowledge of the women towards the NS program. Results: we retrieved 388 surveys. Twenty-five percent of the women acquired their knowledge about NS programs from the internet. Eighty-two percent of the women had healthy children and 42% of them think that the best time to know about NS programs is at the time of screening itself. Our analysis showed a significant association between the educational level and knowledge about the best time to learn about neonatal screening (p=0.0001). Almost half of the women who had one child stated that the screening should take place 2-3 months before the baby is born (p=0.018). The child health status was also associated with the knowledge that if the baby's newborn test is abnormal I might have something wrong with my DNA (p=0.015). It was also associated with knowing that NS will test for common diseases that run in families like diabetes, asthma and heart disease (p=0.02). Conclusion: Saudi women had a positive attitude, but with little knowledge towards the NS program. Further studies are needed to assess the predictors of different levels of knowledge. [ABSTRACT FROM AUTHOR]

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Dried blood spots (DBSs) have had a long history in disease screening in newborns but have gained attention in recent years in the medical care of adults because of the growing importance of personalized medicine. DBSs have several advantages, such as easy transportation, cost-effectiveness, and minimally invasive biological sampling. There are two strategies to process DBS samples. One method takes a fixed diameter of subsample, and another requires the extraction of the whole spot. The whole-spot extraction method is less affected by hematocrit-caused errors, but it requires calibration of the blood volume. We propose a novel strategy using a postcolumn infused-internal standard (PCI-IS) method with liquid chromatography-electrospray ionization mass spectrometry (LC-ESI-MS) for estimating and correcting blood volume variations on the DBS cards. By using PCI-IS to measure the extent of ion suppression in the first ion suppression zone in the chromatogram, the blood volume on the DBS cards can be calculated and further calibrated. We used reference blood samples with different volumes (5 to 25 µL) to construct a calibration curve between the blood volume and the extent of ion suppression. The calibration curve was used to estimate the blood volume on the DBS cards collected from 6 volunteers, with 5 designated volumes from each volunteer. The estimation accuracy of the PCI-IS method was between 74.5% and 120.3%. The validated PCI-IS method was used to estimate and calibrate blood volume variation and also to quantify the voriconazole concentration for 26 patients undergoing voriconazole therapy. A high correlation was found for the quantification results between the DBS samples and the conventionally used plasma samples (r = 0.97). The PCI-IS method was demonstrated to be a simple and accurate method for estimating and calibrating the blood volume variation on DBS cards, which greatly facilitates using the DBS method for therapeutic drug monitoring (TDM) for improving the efficacy and safety of drug therapy. [ABSTRACT FROM AUTHOR]

Background Since the first case was detected in 2000, there has been a remarkable increase in Japanese patients diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Genetic analysis has revealed a spectrum of mutations that is quite different from those observed in Caucasian populations. In 2014, Japan initiated nationwide newborn screening (NBS) for MCAD using tandem mass spectrometry (MS/MS). It is an urgent issue to assess the risk of acute metabolic decompensation from the respective novel mutations found thus far. Methods To evaluate the pathogenic effect of each mutation, we established a eukaryotic cell expression system and prepared 11 mutant proteins identified in five symptomatic patients and eight MS/MS-NBS-positive newborns, as well as two common Caucasian mutations, p.K329E (c.985G > A) and p.Y67H (c.157C > T) for comparison. Results The expression of four mutant proteins (p.Q45R, p.P92L, p.P128X and p.Y397N) were severely impaired, whereas the others expressed normally, as did p.K329E and p.Y67H. Based on their dehydrogenase activities toward n-octanoyl-CoA, we determined three mutations (p.R53C, p.R281S and p.G362E) to be disease-causing, two mutations having (p.R17H and p.M274V) to be of marginal risk, and two mutations (p.K271E and p.I416T) as benign. Their allele-specific activities were as a whole in accordance with those estimated from the results of measurement in peripheral blood mononuclear cells. Conclusion As most of the mutations detected in the Japanese population are unique, prudent genetic and enzymatic analysis is essential to precisely evaluate the latent risk of clinical onset for screening-positive newborns. [ABSTRACT FROM AUTHOR]

Background The Department of Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children ('Advisory Committee') makes recommendations to the HHS Secretary regarding addition of new conditions to the national Recommended Uniform Screening Panel for newborns. The Advisory Committee's decision-making process includes assessing the net benefit of screening for nominated conditions, informed by systematic evidence reviews generated by an independent Condition Review Workgroup. The evidence base regarding harms associated with screening for specific conditions is often more limited than that for benefits. Procedures The process for defining potential harms from newborn screening reviewed the frameworks from other public health evidence-based review processes, adapted to newborn screening by experts in systematic review, newborn screening programs and bioethics, with input from and approval by the Advisory Committee. Main findings To support the Advisory Committee's review of nominated conditions, the Workgroup has developed a standardized approach to evaluation of harms and relevant gaps in the evidence. Types of harms include the physical burden to infants; psychosocial and logistic burdens to families from screening or diagnostic evaluation; increased risk of medical treatment for infants diagnosed earlier than children with clinical presentation; delayed diagnosis from false negative results; psychosocial harm from false positive results; uncertainty of clinical diagnosis, age of onset or clinical spectrum; and disparities in access to diagnosis or therapy. Conclusions Estimating the numbers of children at risk, the magnitude, timing and likelihood of harms will be integrated into Workgroup reports to the Advisory Committee. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.e., the salt wasting (SW), simple virilizing (SV), and nonclassic (NC) forms. The most severe form of SW manifests in the first months of life with life-threatening adrenal insufficiency, leading to death. To prevent death by adrenal insufficiency in neonates with the SW form and wrong gender assignment of 46,XX female patients with SW and SV, neonatal mass screening of 21-OHD is performed in several countries including Japan. However, the positive predictive value (PPV) remains low, especially in preterm infants. To reduce the false positive rate and increase the PPV, liquid chromatography followed by tandem mass spectrometry (LC-MS/MS) as a second-tier test may be useful. In this review, the current knowledge on neonatal mass screening of 21-OHD is summarized. [ABSTRACT FROM AUTHOR]

Aim: Neonatal screening for sickle cell anaemia is not common practice in the Democratic Republic of Congo, and we determined the prevalence in children with unknown electrophoresis of haemoglobin and anaemia.Methods: A cross-sectional study was conducted in four hospitals in the country's capital Kinshasa.Results: We screened 807 patients with anaemia (Hb < 6 g/dL) for sickle cell disease. The overall mean age at presentation was 42.7 months ± 29.7 months, and most patients (76.3%) were less than five years of age, with a peak incidence at seven to 36 months of age (45%). The median age at the first transfusion was 29 months (range 4-159 months). Of these 807 children, 36 (4.5%) were homozygous for haemoglobin S disease and 45 (5.6%) were heterozygotes. The proportion of patients with homozygous sickle cell anaemia was slightly higher in children with a medical history of hand foot syndrome, in children who had received more than three transfusions and in children up to 36 months of age at their first transfusion.Conclusion: The high prevalence of sickle cell anaemia in children in Sub-Saharan Africa underlines the need for neonatal screening or, if that is not possible, screening of all children with severe anaemia to identify patients with the disease and provide early management. [ABSTRACT FROM AUTHOR]

Objective: To determine the validity of haematologic markers for sepsis screen (absolute neutrophil count (ANC), immature/total leukocytes ratio (I:T), platelets count (PC), C-reactive protein (CRP) and serum ferritin), both individually and in combination for early diagnosis of neonatal sepsis. Methodology: This cross -- sectional analytical study was conducted in Neonatal Section of Paediatric Medicine Unit II, Mayo Hospital Lahore for one year. One hundred neonates presenting with clinical sepsis were included through non-probability, purposive sampling after written informed consent. Blood sample was collected for full hematologic screening as mentioned above along with blood cultures. Data was entered and analyzed using SPSS Version 17. Results: There were 68 male and 32 females including 31 preterm and 69 term neonates. 45 neonates were < 1 day age, 40 neonates 1 - 10 days age, 15 neonates 11 - 30 days age. Mean weight of study cases was 2.35 ± 0.69 Kg. Sensitivity, specificity and diagnostic accuracy of ANC were 77.3%, 100% and 90%, for I/T ratio were 81.8%, 81.4% and 81%, for CRP were 75%, 83.9% and 80%, for platelet count were 84.1%, 71.4% and 77%, for serum ferritin were 88.6%, 69.6% and 78% respectively. Sensitivity, specificity and diagnostic accuracy of combination of SF + I:T was 81.8%, 82.1% and 82%, for combination of SF + ANC + I:T were 93.2%, 71.4% and 81% for combination of SF + CRP + I:T were 93.2%, 67.9% and 79%, for combination of SF + I:T + PC were 90.9%, 58.9% and 73%, for combination of SF + CRP + ANC were 95.5%, 69.6% and 81%. Sensitivity, specificity and diagnostic accuracy of combination of all markers were 90.9%, 76.8% and 83% respectively. Conclusion: Results of our study showed that we can safely rely on hematologic markers for confirmation of neonatal sepsis both singly and in combination. We suggest that these tests may help to diagnose neonatal sepsis earlier. [ABSTRACT FROM AUTHOR]

The article focuses on the evaluation of screening for severe combined immunodeficiency (SCID) in Greta Britain by the National Health Service (NHS) newborn blood spot (NBS) screening programme. Topics include the nature of SCID as a rare disease that affects the immune system, determining if SCID works in practice as part of the existing NBS screening programme, and the changes made to the Bacillus Calmette-Guérin (BCG) vaccination programme in Great Britain.

Purpose of developing the guidelines: Mass screening for congenital hypothyroidism started in 1979 in Japan, and the prognosis for intelligence has been improved by early diagnosis and treatment. The incidence was about 1/4000 of the birth population, but it has increased due to diagnosis of subclinical congenital hypothyroidism. The disease requires continuous treatment, and specialized medical facilities should make a differential diagnosis and treat subjects who are positive in mass screening to avoid unnecessary treatment. The Guidelines for Mass Screening of Congenital Hypothyroidism (1998 version) were developed by the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology in 1998. Subsequently, new findings on prognosis and problems in the adult phase have emerged. Based on these new findings, the 1998 guidelines were revised in the current document (hereinafter referred to as the Guidelines). Target disease/conditions: Primary congenital hypothyroidism. Users of the Guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, physicians referring patients to pediatric practitioners, general physicians, laboratory technicians in charge of mass screening, and patients. [ABSTRACT FROM AUTHOR]

Background Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). CG is detected by newborn screening (NBS) in many countries; however, conclusive diagnosis can be complex due to broad and overlapping ranges of GALT activity. Molecular studies can also be complex due to allelic heterogeneity at the GALT locus. Methods We conducted both biochemical and molecular follow-up studies for an infant flagged by NBS for possible galactosemia. To clarify the diagnosis we also conducted biochemical and RNA studies of lymphoblasts prepared from the child and one parent. Results We identified a novel noncoding GALT variant, c.377+17C>T, that was homozygous in the child and heterozygous in both parents. The child and both parents also showed diminished GALT activity in red blood cells, and transformed lymphoblasts from the child and one parent further showed diminished GALT activity. However, qRT-PCR studies demonstrated apparently normal GALT mRNA levels in lymphoblasts, and Gal-1P values measured in the child following galactose exposure in infancy and at 1 year were normal. Conclusions These results highlight the existence of rare but apparently benign variants in GALT and underscore the need for functional studies to distinguish pathogenic from benign variants. [ABSTRACT FROM AUTHOR]

Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites. With the benefit of early diagnosis by neonatal screening and early therapy, the acute presentation of classical galactosemia can be prevented. However, despite early diagnosis and treatment, the long term outcome for these patients is still unpredictable because they may go on to develop cognitive disability, speech problems, neurological and/or movement disorders and, in females, ovarian dysfunction. The objectives of the current study were to report our experience with a group of galactosemic patients identified through the neonatal screening programs in northeastern Italy during the last 30 years. No neonatal deaths due to galactosemia complications occurred after the introduction of the neonatal screening program. However, despite the early diagnosis and dietary treatment, the patients with classical galactosemia showed one or more long-term complications. A total of 18 different variations in the GALT gene were found in the patient cohort: 12 missense, 2 frameshift, 1 nonsense, 1 deletion, 1 silent variation, and 1 intronic. Six (p.R33P, p.G83V, p.P244S, p.L267R, p.L267V, p.E271D) were new variations. The most common variation was p.Q188R (12 alleles, 31.5%), followed by p.K285N (6 alleles, 15.7%) and p.N314D (6 alleles, 15.7%). The other variations comprised 1 or 2 alleles. In the patients carrying a new mutation, the biochemical analysis of GALT activity in erythrocytes showed an activity of < 1%. In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure) showed potentially damaging effects of the six new variations on the GALT protein, thus expanding the genetic spectrum of GALT variations in Italy. The study emphasizes the difficulty in establishing a genotype–phenotype correlation in classical galactosemia and underlines the importance of molecular diagnostic testing prior to making any treatment. [ABSTRACT FROM AUTHOR]

Objective To investigate the association of eight connexin genes ( GJB2 , GJB4 , GJA1P1 , GJB6 , GJB3 , GJA1 , GJB1 , and GJC3 ) and the SLC26A4 gene with congenital hearing impairment among infants in a universal newborn hearing screening program. Method From September 2009 to October 2013, the consecutive neonates born in all six branches of Taipei City Hospital were enrolled. Infants who failed the newborn hearing screening and were diagnosed with hearing impairment underwent the genetic analyses. Result 15,404 neonates were born at Taipei City Hospital, and 15,345 neonates underwent newborn hearing screening. Among them, 32 infants were diagnosed with unilateral or bilateral hearing impairment. 26 of them underwent analyses of the connexin genes and the SLC26A4 gene. Of the connexin genes, two infants carried a GJB3 mutation (heterozygous c.580G>A and heterozygous c.520G>A, respectively). Only one infant carried a GJB2 mutation (homozygous c.235delC). One infant carried a GJA1P1 mutation (heterozygous c.929delC) and another carried a GJB4 mutation (heterozygous c.302G>A). Additionally, one infant carried a GJA1P1 novel variant (heterozygous c.1081C>T). Another infant carried a GJA1 novel variant (heterozygous c.1-33C>G). Of the SLC26A4 gene, one infant carried heterozygous c.919-2A>G mutation and a novel variant (heterozygous c.164+1G>C), and high-resolution computed tomography (HRCT) of the temporal bone revealed bilateral enlarged vestibular aqueducts. One infant carried heterozygous c.919-2A>G mutation and no inner ear anomalies were demonstrated by HRCT of the temporal bone. Another infant carried a novel variant (heterozygous c.818C>T). Conclusion These results provide a genetic profile of the connexin genes and SLC26A4 gene among infants with hearing impairment detected by a universal newborn hearing screening program in Taiwan. Further studies and long-term follow up of this cohort are warranted to determine the pathogenicity of each variants and the long-term hearing consequence. [ABSTRACT FROM AUTHOR]

To evaluate the thyroid screening program and to estimate the prevalence of congenital hypothyroidism (CH) among newborns in the Republic of Macedonia, we measured thyroid-stimulating hormone (TSH) levels in dried blood spot specimens using the DELFIA fluoroimmunoassay, over a period of 12 years. The TSH cutoff level was 10 mU/L blood. A total of 215,077 newborns were screened (94.76 %). Out of 254 recalled newborns (a recall rate of 0.15 %), 83 newborns with CH were detected, yielding a CH prevalence at screening of 1/2,591 (female to male ratio, 1.86:1). Of the CH cases, 47/107,754 (56.6 %) neonates were Macedonian, 29/70,330 (34.9 %) were Albanian, and 7/15,055 (8.4 %) were Roma. The thyroid gland was undetectable on ultrasound in 43 (51.8 %) newborns with CH, thyroid hypoplasia was confirmed in 8 (9.6 %), while 29 (34.9 %) had a normal thyroid gland. In three newborns (3.6 %), agenesis of one lobe was confirmed. Therapy with levothyroxin was initiated on average 11.7 days after birth. Conclusion: The national thyroid newborn screening program in Macedonia has been successful and effective, providing timely diagnosis and treatment of children with congenital hypothyroidism. [ABSTRACT FROM AUTHOR]

Background and objective Tandem mass spectrometry-based newborn screening (NBS) is a powerful screening tool. The NBS process includes sample collection, shipment, testing, analysis, reporting and communication with the infant's family. We explored the NBS programme-related factors that may delay diagnosis and may influence timely initiation of treatment in neonates who present before the screening results are available and therefore urgently need diagnosis and treatment. Study design Detailed retrospective review of all data regarding sampling, shipment, testing and notification, contact with family and initiation of treatment of all neonates with disorders of fatty acid oxidation (FAO) and protein metabolism (PM), who presented clinically before NBS results were available, between 1-February-2002 and 31-January-2014. Results Of 847,418 newborns screened, 18 infants presented clinically before NBS results were available (FAO n = 9, median age 2.5 days; PM n = 9, median age 3 days). Samples were collected from 11 infants at age 48–72 h, as per instructions, and were received in the laboratory at a median age of 7 days (median 4 days from sample collection until receipt in the laboratory). Results were available within 24 h in 16/18 infants. Treatment for a suspected metabolic disorder was initiated in seven infants before results were available. Conclusions An audit of the programme procedures enabled the identification of issues that can be improved. Some patients benefited from the availability of results shortly after presentation. Good communication between the laboratory, the clinical metabolic specialist service and the primary treating team ensures timely initiation of treatment in these infants. [ABSTRACT FROM AUTHOR]

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder included on newborn screening (NBS) panels in many regions that have expanded to using tandem mass spectrometry for acylcarnitine screening. False positive (FP) screening results for MCAD deficiency have previously been linked to very low birth weight (VLBW) infants and those who are heterozygous for the common mutation, p.K324E. Previous studies have identified these causes of FP screens by sequencing residual dried blood spots. From our cohort of FP screens in Georgia, we identified an elevation at the same mass as octenoylcarnitine (C8:1) causing elevations of octanoylcarnitine (C8) not due to MCAD deficiency. We reviewed biochemical results from 2011 to 2013 for all newborn screens positive for MCAD deficiency in Georgia to identify screening criteria to allow these cases to be identified prospectively, thus saving families the stress of additional testing on their newborn and reducing healthcare costs while improving screening performance for the screening program. We identified the C8/C8:1 ratio as an effective marker, and developed criteria that will reduce FP screening results due to this interfering substance. [ABSTRACT FROM AUTHOR]

Background and Objectives: Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a positive result undergo a definitive diagnostic test. We propose a framework to overcome this limitation and estimate the prevalence of disease, sensitivity of screening, and its yield relative to no screening. Study Design and Setting: A Bayesian model simultaneously combined available prevalence data on the most common mutation of MCADD (c.985AOG) in screened and nonscreened populations using the relationship between true and apparent prevalence of disease. Data originated from screening pilots in England, disease surveillance studies, and published literature. Model validity and consistency were formally checked. Results: True prevalence of c.985AOG homozygotes in England was 6.2 per 100,000 individuals, and the sensitivity of the screening program was 94% (95% confidence interval [CI]: 74, 100%) compared with a detection rate in nonscreened areas of 48% (95% CI: 30, 68%) by age of 5 years. Hence, the screening program detected 47% (95% CI: 30, 60%) additional cases compared with no screening. Conclusion: The sensitivity of the screening program in England was high and our estimation approach could be adapted to inform other jurisdictions, rare diseases, and newborn screening programs. [ABSTRACT FROM AUTHOR]

The article presents several abstracts which will be presented at the 38th Human Genetics Society of Australasia Annual Scientific Meeting, which will be held on August 3-6, 2014 in Adelaide, South Australia, including abstracts on the medical screening of newborn infants, an intellectual disability map of the human X chromosome and non-invasive cancer genome scanning.

The role of midwives has evolved over the last two decades, and in the United Kingdom midwives and advanced neonatal nurse practitioners undertake roles that traditionally were undertaken by junior doctors. The Newborn Infant Physical Examination (NIPE) is performed within the first 72 hours of birth (Lanlehin, 2011), and enables midwives to provide a holistic assessment of neonates and their mothers, as well as confirming normality, identifying abnormalities, and providing early intervention for at risk neonates. The aim of this paper is to discuss the usefulness of the Newborn and Infant Assessment Tool (NIAT) which was originally used as an oral assessment tool for a health professional undertaking the NIPE course. However, it became clear over the course of 10 years that not only is this a framework for assessing students' application of theoretical knowledge to practice scenarios, it is also an assessment tool that can be used by trained midwives, medical staff, and student nurses to enhance clinical decision-making when faced with an unwell baby. [ABSTRACT FROM AUTHOR]

The authors reflect on the U.S. Preventive Services Task Force's recommendations on lipid screening in children and adolescents, and it mentions the claim that clinicians, who already test all newborns for phenylketonuria, should perform screening to detect familial hypercholesterolemia (FH) and pediatric lipid disorders in newborns. Screening for multifactorial dyslipidemia is examined, along with other lipid disorders such as combined dyslipidemia of obesity.

Objective: High-performance liquid chromatography (HPLC) has been evaluated as useful technique for detection of variant hemoglobins in newborn screening, ethnicity-based screening, and patients with abnormal hemoglobin electrophoresis. This study aimed at evaluating this technique as ‘reflex’ testing in a pediatric referral center. Methods: This study included 1317 children visiting the pediatric hospital, who underwent HPLC analysis on anticoagulated blood samples. These patients were divided into clinician-requisitioned HPLC (group A), ‘reflex’ testing for anemia (group B), and unrelated etiologies (group C). HPLC graphs were evaluated for various hemoglobins. Statistical analysis was performed for comparison between these groups for frequency of abnormal HPLC assay and various red cell parameters. Results: The frequency of abnormal HPLC assay was 22.89% in group A (125 of 546 cases), 26.89% in group B (78 of 290 cases), and 31.8% in group C (153 of 781 cases) with statistically significant difference. The most frequent variant in all three groups was thalassemia trait. Thalassemia intermedia and major, both were detected in few patients in groups B and C. Conclusion: ‘Reflex’ testing for hemoglobin variants can be undertaken for pediatric samples to enhance detection of these variants and avoid an additional venepuncture. [ABSTRACT FROM AUTHOR]

Aims There has been increasing evidence of a lack of public awareness of newborn screening and concern about inadequate consent being obtained from parents. Apprehension also exists in relation to storage and secondary use of screening samples. Our objective was to introduce a written consent process across Victoria as a means of strengthening programme transparency, quality and supporting parental choice. In addition, more comprehensive information covering all aspects of the programme was developed. Methods A 'two-stage' written consent protocol allowed parents to give separate consent for (i) their baby to be screened and (ii) secondary use of the sample in de-identified health research. At the time of sample collection, parents were asked to complete the consent form, included as part of the screening card. The protocol was piloted in four public hospitals and subsequently implemented statewide. Results Twelve months of laboratory data showed that although refusals for screening increased, overall participation remained above 99%. The percentage of parents opting out of research use was 6.5%. Provider compliance with the new protocol was high, with only 1.4% of cards received without a completed consent form. Conclusion This quality improvement project has demonstrated that parents can participate more fully in newborn screening without jeopardising high uptake. As a secondary benefit, the public health resource of stored cards can be maintained with parental support. Future work needs to examine the quality of consent being given by parents and investigation of the reasons why some choose to decline. [ABSTRACT FROM AUTHOR]

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Anywhere from 10% to 40% of neonates detected by newborn screening programs have mild congenital hypothyroidism (thyroid-stimulating hormone [TSH] 6 to 20 mU/l with borderline low free T4) or isolated hyperthyrotropinemia. The increasing frequency of such cases appears to be chiefly the result of lowering screening TSH cutoffs. In some cases, the etiology is a mild form of dysgenesis or dyshormonogenesis; most cases, however, on imaging have gland in situ of unexplained etiology. Re-evaluation after age 3 years shows some with transient hypothyroidism, a minority with permanent hypothyroidism, while the majority have persistent, mild TSH elevation and normal free T4. There is limited data on neurodevelopmental outcome to guide management. In cases where the TSH is trending down and free T4 is normal, we recommend re-checking serum TSH and free T4 at weekly intervals. If serum TSH does not normalize by 4 weeks of age, we recommend treatment, with re-evaluation after age 2-3 years. [ABSTRACT FROM AUTHOR]

Abstract: Background: Interest in lysosomal storage diseases in newborn screening programs has increased in recent years. Two techniques, fluorescence (4-MU) and tandem mass spectrometry (MS/MS) methods are frequently used. We report a pilot study of large scale newborn screening for Fabry, Pompe, Gaucher, and MPS I diseases by using the MS/MS method in Taiwan and compared the performance of the MS/MS with 4-MU methods. Methods: More than 100,000 dried blood spots (DBSs) were collected consecutively as part of the national Taiwan newborn screening programs. The enzyme activities were detected by the MS/MS method from a DBS punch. Mutation analysis was further performed for newborns with detected enzyme deficiency. Results: The DNA sequence analysis for suspected cases revealed 64 newborns with confirmed Fabry mutations, 16 were classified as infantile or late-onset Pompe disease, and 1 was characterized as Gaucher disease. The positive predict value increased from 4.0% to 7.1% in the Pompe study, and from 61.0% to 95.5% in the Fabry study by the MS/MS method compared to 4-MU assay. Conclusions: The MS/MS method has been validated as a more specific, powerful and efficient tool than the 4-MU assay. It also provided a multiplex solution of newborn screening for lysosomal storage diseases. [Copyright &y& Elsevier]

Search results show that numerous primary studies have been carried out in different parts of Iran regarding prevalence of G6PD deficiency; if results of these studies are combined, a reliable estimation of prevalence of this factor will be achieved in Iran. Thus, present study, aimed to determine the prevalence of G6PD deficiency by combining findings of qualified primary studies using meta-analysis and taking into account heterogeneity considerations. Searching the relevant keywords in Iranian and International databases, primary studies were selected. After quality appraisal and applying inclusion and exclusion criteria, relevant primary studies were selected. In each study, standard error of prevalence of G6PD was calculated according to binominal distribution formula. Finally, heterogeneity index was determined among studies using Cochran's test. Prevalence of G6PD in Iran was estimated by STATA software ver 11 using fixed or random effect model based on heterogeneity results. 148916 subjects in 36 primary studies which entered this meta-analysis were examined. G6PD deficiency prevalence was 6.7% in Iran (men: 8.8% and women: 2.2%). Also, this deficiency in the present study was four times higher in men than in women. Its prevalence was adjusted in different parts of Iran and it was shown that it was between 0.8 and 15.2 using Bayesian analysis. This meta-analysis showed that Iran is among countries with high frequency of G6PD deficiency and there is a significant difference in prevalence of G6PD in different parts of Iran. According to these results, screening newborn children seems very vital. Carrying out other primary studies regarding prevalence of G6PD seems unnecessary [ABSTRACT FROM AUTHOR]

Introduction: Newborn screening (NBS) for cystic fibrosis (CF) was introduced to London and South East England in 2007. We wished to assess the details of missed cases, and to compare the age at diagnosis and other clinical parameters, prescreening and postscreening. Methods: Retrospective and prospective case notes and database review of all newly diagnosed CF patients in our 7 CF centres, for 18 months before and 4 years after NBS started. Results: 347 patients were diagnosed with CF. 126 patients were not screened (born before or abroad), and had a median age at diagnosis of 2.4 years, excluding those with meconium ileus (MI). Their median time to diagnosis from initial symptoms was 1 year, and in 10% it was >6 years. After NBS started, 170 were diagnosed by NBS (48% were already symptomatic); 7 moved into the region after NBS elsewhere; 34 presented with MI (6 were negative on NBS); and 10 screened children were missed (false negative cases). Median age of diagnosis was 3 weeks. Prevalence was 1 in 3991 live births. By 2 years of age (with data on 104 patients), 49 children (47%) had their first isolation of Pseudomonas aeruginosa, while 37 (36%) had their first growth of Staphylococcus aureus from respiratory cultures. Conclusions: NBS has significantly reduced the age of diagnosis, although many were symptomatic even at 3 weeks of age. A small number of patients with CF can still be missed by the screening programme, and the diagnosis should be considered even with a negative screen result. [ABSTRACT FROM AUTHOR]

Objective. To study the frequency of congenital hypothyroidism (CH)/thyroid disorders at a major, urban medical center. Methods. We conducted a retrospective review of a preexisting database for 2007 to 2011. Infants were classified as having CH, secondary/tertiary hypothyroidism, thyroid-binding globulin deficiency, and other types of newborn thyroid dysfunctions. Results. A total of 353 (50%) abnormal newborn screens were found to be normal and 42% were abnormal on repeat. Of the latter, 14% had true CH, 1% had thyroid-binding globulin deficiency, and 27% had other causes of thyroid dysfunction. The 5-year incidence of CH at NYP Morgan Stanley Children’s Hospital was significantly greater than in New York City, New York State, and Upstate New York. Conclusion. The incidence of CH and other thyroid dysfunctions were greater in our population for 2007 to 2010, after which there was an unexplained decline. The study underlines the importance of continued newborn screening for thyroid dysfunction. [ABSTRACT FROM PUBLISHER]

Objective: The most important cause of infant mortality during the first month of life is related to congenital abnormalities. Nevertheless, timely diagnosis of these diseases can reduce the severity of their effects. The present study aimed to investigate the cost-effectiveness of the neonatal screening program in Fars Province, Iran. Methods: In this study, costs of executing the screening programs, treatment of the diagnosed cases, treatment of affected, non-screened individuals, quality of life, and incremental cost-effectiveness ratios were measured in two study groups. Findings: Performing the screening programs for phenylketonuria, congenital hypothyroidism, galactosemia, and favism resulted in respectively $3386, $13078, $19641, and $1088 saving per patient. Overall, the study results revealed the cost-effectiveness of execution of the neonatal screening program. Conclusion: Neonatal screening program is one of the health interventions which lead to long-term beneficial outcome for the patients, financial saving for the society, and improvement of the patients' quantity as well as quality of life. [ABSTRACT FROM AUTHOR]

Introduction: We retrospectively assessed the incidence of congenital hypothyroidism (CH) detected through our neonatal screening program between 1997 and 2010. We describe the diagnostic characteristics of the detected population and verify the impact of a TSH cutoff (CO) change. Patients and Methods: Screening was based on TSH determination on dried blood spot on filter paper samples (IFMA) using a 15 mU/l blood CO until 12/2002 (P1) and 10 mU/l thereafter (P2). Patients were classified as having transient or permanent CH (athyreotic, ectopic, eutopic, with goiter and unknown etiology). Global and diagnostic-related incidences were calculated for the whole studied period with the same CO, and P1 and P2 were compared. Results: Incidences of permanent CH were 1:3,108 (P1) and 1:2,367 (P2). The lower CO detected 22 extra CH, 13 of them definitive (70% with eutopic glands). Only a significant increase (p < 0.05) in eutopic CH was found, partially related to the lower CO applied. A statistically significant association with time was seen for total definitive and ectopic cases (p < 0.05). Conclusion: Our findings revealed some changes in the detected population partially related to the CO applied, with only eutopic dysfunctional disorders being more prevalent in the later years. Total permanent CH and ectopic thyroid disorders showed a trend toward higher detection over time, but their prevalence has not changed significantly in our screening program. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours. This procedure is known as "newborn screening for critical congenital heart disease" and serves to detect timely those congenital structural cardiac malformations with hypoxema, such as heart syndrome, pulmonary valve atresia, truncus arteriosus, total anomalous pulmonary vein connection, complete transposition of the great arteries, tetralogy of Fallot and tricuspid valve atresia. This test has been included in the mandatory neonatal screening panel of many countries and its generalization all over the world, seems imminent. [ABSTRACT FROM AUTHOR]

Abstract: This study aimed to explore Fabry disease (FD) patients' experiences with the timing of their diagnosis and identify important patient-oriented themes relevant to discussions about the need for newborn screening (NBS) for this disorder. Thirty FD patients (13 males) were included in a qualitative study involving semi-structured interviews. The interviews were audiorecorded and transcribed, and the transcripts were analyzed to identify themes that captured the patients' experiences. The interview analysis revealed six relevant themes. One of these was the impact of a delayed diagnosis on severely affected patients, who often felt misunderstood and were frequently misdiagnosed. In contrast, some patients mentioned the drawbacks of presymptomatic diagnosis, which was associated with labeling and medicalization. In addition, the ability to anticipate future FD-related problems was considered both an advantage and a disadvantage of early diagnosis. Still, patients reported that they felt that an early FD diagnosis could prevent disease progression through the timely initiation of treatment. This study identified several relevant themes that reflect both the phenotypic heterogeneity of the disease and the substantial differences between patients' experiences with and without FD symptoms before diagnosis and among the patients in each group. These results add considerable nuances to the discussion about NBS programs for FD and should be incorporated into the debate. [Copyright &y& Elsevier]

Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening. Newborns diagnosed with GA-I by abnormal dried blood spot glutarylcarnitine (C5DC) levels followed in our hospital were included in this study. They were treated with special diets, carnitine supplements, and immediate stress avoidance. Six patients were included in this study. All patients were treated prior to reaching 1 month of age. They were followed up with for 4 to 9 years. One patient had encephalopathic crisis episodes prior to turning 1 year old that caused pallidal lesions. Another patient had a chronic progressive disease during infancy that caused bilateral putamen lesions. These two patients had delayed development, but their brain lesions were resolved. The other four patients ran uneventful courses. They had normal intelligenece, ranged between average to low average level and their brain magnetic resonance imaging showed only high intensity over deep white matter. Patients with GA-I diagnosed by newborn screening have promising outcomes, though the risks of disease progression prior to 1 year of age remain significant. [ABSTRACT FROM AUTHOR]

The Newborn screening program (PN) in Uruguay began in 1990; in 2007 the PN on filter paper was mandatory for phenylketonuria (PKU) and currently has a near 100% coverage, which ensures the detection, validation, monitoring and treatment of all patients. Many public institutions are committed to the National Newborn Screening (SNPN) but sample processing is centralized at the PN Laboratory which belongs to the Management of Social Welfare Bank Laboratories for Social Security Institute in Montevideo (BPS). From 2008 phenylalanine (Phe) quantification is perfomed in tandem mass spectrometry (MS/MS). The amount of Phe tolerance is titrated in patients with levels between 150 and 360 uml /L; above 360 uml /L treatment is started by an interdisciplinary health professional team. Phe-free formula is purchased by the BPS and provided to the patients at no cost, regardless if it is a public or private health system. The biochemical goal is to maintain Phe levels below 360 umol /L with frequent analysis of plasma Phe with a simultaneous 3 day diet diary. Phe control is performed weekly for the first six months and then every 15 days until the age of five. From 2007 to 2011, the PN has found: 7 patients with PKU, 5 persistent hyperphenylalaninemias, 3 patients with transient hyperphenylalaninemias, one patient with tetrahydrobiopterin deficiency, 8 patients were diagnosed late but had an improved behavior and attention when they were treated. [ABSTRACT FROM AUTHOR]

Chilean newborn screening program began in 1984 through of a covenant between the National Ministry of Health and the Chilean University through its Institute of Nutrition and Food Technology (INTA) with the aim of implementing a pilot study for neonatal detection of phenylketonuria (PKU) in Santiago's central area. In 1989 a program for neonatal diagnosis of PKU and congenital hypothyroidism (HC) was initiated by INTA along with Santiago's occidental health ministry rural area, which covered 20% of newborn population. PKU and HC had an incidence of 1:14,640 and 1:2000 living newborns respectively. These findings allowed the establishment of a favorable cost/benefit ratio which validated the implementation of a program with National character. In 1992 the Chilean Ministry of Health ruled the initiation of PKU and HC newborn screening program and by 1998 the coverage across the country was achieved. INTA is the National Reference Center for confirmation and long term treatment for PKU and HC patients. A follow-up program consists of medical, nutritional, neurological and psychological outcome evaluations as well as periodic biochemical testing in order to guarantee normal patient growth and development. To date 184 children have been diagnosed with classic or moderate PKU, all of them follow a strict monitoring program. [ABSTRACT FROM AUTHOR]

The management of a newborn born to a mother with chorioamnionitis is controversial. By using data collected on neonates born in the era of routine maternal screening for Group B Streptococcus, we calculate that the risk of early-onset sepsis in a hypothetical infant born at term to a mother with chorioamnionitis, who has a normal physical examination at birth, is likely substantially <1% if the mother's screen for Group B Streptococcus was negative. This low rate of sepsis calls into question current guidelines recommending treatment of all such newborns with intravenous antibiotics for 48 hours pending the results of a blood culture. Current guidelines for the management of infants born to mothers with chorioamnionitis also raise an important ethical issue; the recommendation to treat these infants with intravenous antibiotics is, in essence, a de facto determination of what constitutes unacceptable risk to the newborn. We argue that this determination is ultimately value-based and therefore requires broader deliberation than that which frequently occurs among medical experts who develop medical guidelines. [ABSTRACT FROM AUTHOR]

Context Newborn screening for cystic fibrosis (CF) is included in many routine programmes but current strategies have considerable drawbacks, such as falsepositive tests, equivocal diagnosis and detection of carriers. Objective To assess the test performance of two newborn screening strategies for CF. Design, setting and participants In 2008 and 2009, CF screening was added to the routine screening programme as a prospective study in part of the Netherlands Interventions Two strategies were performed in all newborns. In the first strategy, concentrations of immunoreactive trypsinogen (IRT) and pancreatitisassociated protein (PAP) were measured. In the second method, samples with IRT ≥60 mg/litre were analysed for 36 CFTR mutations, followed by sequencing when a single mutation was detected. Tests were positive only with two identified CFTR mutations. Main outcome Sensitivity, specificity and positive predictive value (PPV) of both screening strategies. Results 145 499 infants were screened. The IRT/PAP approach showed a sensitivity of 95.0%, a specificity of 99.897% and a PPV of 12.3%. Test properties for the IRT/ DNA/sequencing strategy were respectively 100%, 100% and 64.9%. Combining both strategies (IRT/PAP/ DNA/sequencing) led to a sensitivity of 95.0%, a specificity of 100% and a PPV of 87.5%. Conclusion In conclusion, all strategies performed well. Although there was no statistically significant difference in test performance, the IRT/DNA/sequencing strategy detected one infant that was missed by IRT/PAP (/DNA/ sequencing). IRT/PAP may be the optimal choice if the use of DNA technology must be avoided. If identification of carriers and equivocal diagnosis is considered an important disadvantage, IRT/PAP/DNA/sequencing may be the best choice. INSET: Key messages. [ABSTRACT FROM AUTHOR]

Severe combined immunodeficiency is a life-threatening primary immune deficiency characterized by low numbers of naïve T cells. Early diagnosis and treatment of this disease decreases mortality. In 2008, Wisconsin began newborn screening of infants for severe combined immunodeficiency and other forms of T-cell lymphopenia by the T-cell receptor excision circle assay. In total, 207,696 infants were screened. Seventy-two infants had an abnormal assay. T-cell numbers were normal in 38 infants, abnormal in 33 infants, and not performed in one infant, giving a positive predictive value for T-cell lymphopenia of any cause of 45.83% and a specificity of 99.98%. Five infants with severe combined immunodeficiency/severe T-cell lymphopenia requiring hematopoietic stem cell transplantation or other therapy were detected. In summary, the T-cell receptor excision circle assay is a sensitive and specific test to identify infants with severe combined immunodeficiency and severe T-cell lymphopenia that leads to life-saving therapies such as hematopoietic stem cell transplantation prior to the acquisition of severe infections. [ABSTRACT FROM AUTHOR]

Abstract: Background: Transcutaneous bilirubin (TcB) measurement is widely used as screening for neonatal hyperbilirubinaemia. Aims: To prospectively validate TcB measurement using hour-specific nomogram in identifying newborn infants not at risk for severe hyperbilirubinaemia. Study design: prospective, observational, multicenter. Subjects: 2167 term and late preterm infants born in 5 neonatal units in the Lazio region of Italy. Methods: All neonates had simultaneous TcB and total serum bilirubin (TSB) measurements, when jaundice appeared and/or before hospital discharge. TcB and TSB values were plotted on a percentile-based hour-specific transcutaneous nomogram previously developed, to identify the safe percentile able to predict subsequent significant hyperbilirubinaemia defined as serum bilirubin >17mg/dL or need for phototherapy. Results: Fifty-five babies (2.5%) developed significant hyperbilirubinaemia. The 50th percentile of our nomogram was able to identify all babies who were at risk of significant hyperbilirubinaemia, but with a high false positive rate. Using the 75th percentile, two false negatives reduced sensitivity in the first 48 hours but we were able to detect all babies at risk after the 48th hour of age. Conclusions: This study demonstrates that the 75th percentile of our TcB nomogram is able to exclude any subsequent severe hyperbilirubinaemia from 48h of life ahead. [Copyright &y& Elsevier]

Primary immunodeficiencies (PID) encompass more than 250 disease entities, including phagocytic disorders, complement deficiencies, T cell defects, and antibody deficiencies. While differing in clinical severity, early diagnosis and treatment is of considerable importance for all forms of PID to prevent organ damage and life-threatening infections. During the past few years, neonatal screening assays have been developed to detect diseases hallmarked by the absence of T or B lymphocytes, classically seen in severe combined immunodeficiencies (SCID) and X-linked agammaglobulinemia (XLA). As described in this review, a reduction or lack of T and B cells in newborns is also frequently found in several other forms of PID, requiring supplemental investigation and involving the development of additional technical platforms in order to help classify abnormal screening results. [ABSTRACT FROM AUTHOR]

Objectives To examine early fetal growth, pregnancyassociated plasma protein-A (PAPP-A) and free β-human chorionic gonadotropin (β-hCG) in relation to the risk of delivering a small-for-gestational age (SGA) infant. Methods Included in the study were 9450 singleton pregnant women who attended the prenatal screening program at Aarhus University Hospital, Denmark, between January 2005 and December 2007. Maternal serum levels of PAPP-A and free β-hCG were measured between gestational weeks 8 and 13. Two ultrasound examinations were performed, the first at 11-13 weeks and the second at 18-22 weeks, from which gestational age was estimated based on crown-rump length and biparietal diameter, respectively. Early fetal growth was expressed as an index: the ratio between the estimated number of days from the first to the second scan and the actual calendar time elapsed in days. SGA was defined as birth weight <5th centile for gestational age, and the risk of SGA was evaluated according to different cut-offs of the early fetal growth index and the serum markers. Results PAPP-A <0.4MoM combined with an early fetal growth index <10th centile resulted in an increased risk of SGA (odds ratio (OR), 5.8; 95% CI, 2.7-12.7). Low PAPP-A, low free β-hCG and slow early fetal growthwere statistically, independently associated with SGA, and the association between free β-hCG <0.3 MoM and SGA was as strong as that between PAPP-A <0.3 MoM and SGA (OR, 3.1 and 3.0, respectively). Conclusion The combination of slow early fetal growth and low PAPP-A resulted in a nearly six-fold increased risk of delivery of an SGA infant. These findings might improve our chances of early identification of fetuses at increased risk of growth restriction. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Most industrialized countries have introduced some form of universal newborn hearing screening program. Both identification and rehabilitation of hearing loss in newborns have evolved to an acceptable standard and the need for a standardized etiological protocol is emerging. Methods: Extensive literature search to determine which investigations can help identifying the cause of congenital hearing loss and how to limit extensive testing in these children by taking into account the most prevalent causes. Findings: A stepwise approach to detect the cause of hearing loss in children with congenital sensorineural hearing loss was developed. Conclusion: In general it is advised to first rule out Cx26/Cx30 and infectious causes (cytomegalovirus and, if indicated, toxoplasmosis and rubella), and to preserve more extensive investigations for those children in whom these causes do not explain the hearing loss. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: The present study is aimed at figuring out the status of new-born hearing screening program being conducted in India, estimate the use of different screening instruments used and tests practiced, study the role of various professionals involved and document the current practices of audiologists in the country. Method: A questionnaire on “Newborn Hearing Screening Survey” was sent to 185 institutions (165 medical colleges and 20 Speech and hearing centers) all over India and the information gathered was subjected to appropriate analyses. Results: On a 16.75% return rate of the questionnaire, almost half of the colleges have their annual birthing census more than 2000. The majority of sites (57.13%) report an average length of stay for a vaginal delivery to be more than 24 hours with 78.94% also reporting of a NICU of Level II/III type. Only 38.09% of the medical colleges have a universal Newborn Hearing screening program (NBHS) in comparison to 80% of the Speech and Hearing centers. Again 43.8% of the medical colleges who conduct NBHS program have an audiologist and majority of them work towards screening. Almost 63% of the speech and hearing centers use physiological tests like ABR, OAE or their combination to screen newborns. Both medical and speech and hearing organizations prefer that the audiologist inform and even give a written material regarding the results of the tests to the parents. Only 62.65% of the institutions refer less than 11% of their clients for further testing at the time of discharge. In 50% of the medical colleges the results of a test are reported to the parents and primary care physicians/doctors and in 37.5% of the speech and hearing centers the results are informed to the parents. Conclusions: While keeping in mind the incidence of hearing impairment in the neonatal population of India, the results of this survey warrant the need for an urgent implementation of universal neonatal hearing screening in all the health care facilities in the country, at large. [Copyright &y& Elsevier]

Abstract: Objective: To determine the perinatal predictors of discordant screening outcomes based on a two-stage screening protocol with transient-evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR). Methods: A cross-sectional study of infants tested with TEOAE and AABR under a hospital-based universal newborn hearing screening program in Lagos, Nigeria. Maternal and infant factors associated with discordant TEOAE and AABR outcomes were determined with multivariable logistic regression analyses adjusting for potential confounding factors. Results: Of the 4718 infants enrolled under the program 1745 (36.9%) completed both TEOAE and AABR. Of this group, 1060 (60.7%) passed both TEOAE and AABR (“true-negatives”); 92 (5.3%) failed both TEOAE and AABR (“true-positive”); 571 (32.7%) failed TEOAE but passed AABR (“false-positives”) while 22 (1.3%) passed TEOAE but failed AABR (“false-negatives”). Infants with false-positives were likely to be admitted into well-baby nursery (p =0.001), belong to mothers who attended antenatal care (p =0.010) or who delivered vaginally (p <0.001) compared to infants with true-negatives while infants with true-positives were also more likely to be delivered vaginally (p =0.002) or admitted into well-baby nursery (p =0.035) compared to infants with false-negatives. Infants with true-positives were significantly more likely to be delivered vaginally (p <0.001) and have severe hyperbilirubinemia (p =0.045) compared with infants with true-negatives. No association was observed between false-negatives and true-negatives. Antenatal care status, mode of delivery and nursery type were useful predictors of discordant outcomes among all infants undergoing screening (c-statistic=0.73). Conclusions: Given the available screening technologies, discordant TEOAE and AABR may be inevitable for some categories of hearing loss among apparently healthy newborns whose mothers received prenatal care. The potential limitations of perinatal morbidities as basis of targeted screening for such cases therefore merit further consideration. [Copyright &y& Elsevier]