Heel Prick Test Research Articles

Thyroid Function in Neonates with Hypoxic Ischemic Encephalopathy.

We aimed to examine heel prick (capillary) and serum thyroid function test (TFT) results in neonates with hypoxic ischemic encephalopathy (HIE) to evaluate the effect of asphyxia and therapeutic hypothermia (TH) on thyroid functions. This retrospective chart review included infants who were born after 34 weeks of gestation, were diagnosed and treated for HIE. The patients were divided into those who did and did not undergo TH and the groups were compared in terms of demographic characteristics, laboratory results, capillary thyroid-stimulating hormone (cTSH) levels, and serum thyroid-stimulating hormone (TSH) and free thyroxine (fT4) levels. A total of 111 neonates were included in the study. There was no difference between the TH group (n = 90) and the nonhypothermia group (n = 21) in terms of median gestational age (38.3 ± 2.1 weeks vs. 38.6 ± 1.8 weeks, p = 0.42) or birth weight (3182 ± 509 g vs. 3174 ± 573 g, p = 0.72). Serum TFT was performed at a median of 10 days (range, 2-43) and capillary TSH analyzed at a median of 6 days (range, 1-26). Capillary TSH at 96 hours was analyzed in 36 patients in the TH group and 19 patients in the nonhypothermia group. Serum TSH and fT4 levels were similar in both groups (p = 0.29, p = 0.1). Overall cTSH and cTSH obtained in the first 4 days were 2.2 (0.5-10) and 4.3 (0.5-94), p = 0.059; 2 (0.5-22) and 5 (0.5-94), p = 0.04, respectively, whereas cTSH obtained after day 4 was similar in both groups (p = 0.058). Abnormal serum TSH (>5.5 mU/mL) was more frequent in the hypothermia group (44.4% vs. 19%, p = 0.026). Our results suggest that TH may cause some alterations on TFTs. Therefore, it may be reasonable to repeat TSH screening after TH.

Clinico-Biochemical Presentation of Classical Organic Aciduria Presenting as Intoxication in Tertiary Care Hospital of Peshawar

Background: About 5 million children died in 2017 in developing countries alone, amongst them 15-20% are due to inherited metabolic disorders. Inherited metabolic disorders like Methyl Malonic Aciduria, Isovaleric aciduria, Glutaric Aciduria type 1, Urea cycle defects, Maple syrup urine disease & multiple carboxylase deficiency present mostly as intoxication, ataxia and convulsions Objective:To find the pattern of classical organic aciduria in children of different age and gender Methodology: This cross-sectional descriptive study was conducted at Paediatrics department of Town Women & Children Hospital, Peshawar from Aug 2018- Aug 2020. Patients aged 0-24 months were included in the study based on inclusion criteria.Clinical data, preliminary investigations and urinary organic acids profile were collected. Data were analysed using SPSS version 21. Results: Out of 178 total patients, 36 patients were diagnosed with classical Organic aciduria in this present study. Mean age of the study population was 0.865+/- 1.07654 years and range of 1 - 2 years. About 20(53%) cases were males, while 16(47%) cases were females. Major clinical and biochemical findings included seizures, feeding difficulties, developmental delay, neurological impairment, and motor weakness, hypoglycemic and metabolic acidosis. Conclusion: The cases positive for inherited metabolic disorder showed a significant prevalence. Methyl Malonic Aciduria was the commonest of the OAs found in Northern areas of Pakistan followed by 3- Methyl Glutaconic aciduria.Simple heel prick test alongside blood gas analysis and confirmatory test by urinary Gas Chromatography Mass Spectrometry were helpful in diagnosis of such inherited metabolic disorder. Keywords: Intoxication; Organic aciduria;Ethyl Malonic aciduria; Fumaric Aciduria

(Lack of) knowledge of mothers about sickle cell trait and disease: a qualitative study.

to analyze the understanding of mothers about sickle cell disease and/or trait of the family from a diagnosed child. this is a qualitative study, using a semi-structured interview with 23 mothers, at a sickle cell disease outpatient clinic of a public institution, from October to December 2017. Analysis was thematic. all participants had sickle cell trait as well as the parents of their children. Twenty children were diagnosed with sickle cell disease by Heel Prick Test, and three, after hospitalization due to the disease. Most did not know how to report the presence of the trait or disease in relatives other than nuclear. diagnosis cannot be restricted to the result of neonatal screening, requiring that preventive information on sickle cell crises be reinforced. It is recommended to search for other affected relatives to learn about their genetic condition, reflecting on their reproductive decisions.

IgG Avidity in Samples Collected on Filter Paper: Importance of The Early Diagnosis of Congenital Toxoplasmosis.

The purpose of the present study is to standardize and evaluate the use of the immunoglobulin G (IgG) antibody avidity test on blood samples from newborns collected on filter paper to perform the heel test aiming at its implementation in ongoing programs. Blood samples from newborns were collected on filter paper simultaneously with the heel prick test. All samples were subjected to immunoglobulin M IgM and IgG enzyme-linked immunosorbent assays (ELISA). Peripheral blood was collected again in the traditional way and on filter paper from newborns with high IgG levels (33). Three types of techniques were performed, the standard for measuring IgG in serum, adapted for filter paper and the technique of IgG avidity in serum and on filter paper. The results of the avidity test were classified according to the Rahbari protocol. Among the 177 samples, 17 were collected in duplicate from the same child, 1 of peripheral blood and 1 on filter paper. In this analysis, 1 (5.88%) of the 17 samples collected in duplicate also exhibited low IgG avidity, suggesting congenital infection. In addition, the results obtained from serum and filter paper were in agreement, that is, 16 (94.12%) samples presented high avidity, with 100% agreement between the results obtained from serum and from filter paper. The results of the present study indicate that the avidity test may be another valuable method for the diagnosis of congenital toxoplasmosis in newborns.

Louis Isaac Woolf (24 April 1919 – 7 February 2021)

Professor Emeritus Louis Woolf died aged 101 on Sunday, 7 February 2021, in Vancouver, British Columbia. He is best known for his pioneering work conceiving and developing the first dietary treatment for phenylketonuria (PKU) based on a phenylalanine – a depleted hydrolysate of milk protein. His idea came from a ‘light bulb’ moment at a biochemistry meeting.Louis joined the Biochemical Society in May 1949 and continued until his death. He was thereby one of the longest ever serving members of the Society.He was born in London, the third child of Jewish parents from northern Romania. In 1938 he gained scholarships to study for a degree in chemistry at University College London (UCL) achieving First Class Honours and then a PhD. In 1939, at the outbreak of World War II, he was evacuated to Aberystwyth in Wales, along with the rest of UCL, to complete his degrees. There he met his future wife Frances Mary Richards.In 1947 he secured a post at Great Ormond Street Hospital (GOSH) to research tyrosine metabolism in premature babies. His first publication in a 1950 issue of the Biochemical Journal described this. Included in his chromatography studies were patients with PKU, then considered ‘untreatable’. He had postulated that their severe learning difficulties arose either from their abnormally raised blood phenylalanine concentrations or its toxic metabolite phenylacetic acid. He presented his investigations on the latter at the 1951 Biochemical Society Annual General Meeting in London. He wondered, could PKU patients be treated by lowering their concentration of phenylalanine with an artificial, low phenylalanine diet with added nutrients to make it a complete food? A protein substitute of pure amino acids was then extremely expensive. Fortuitously he went to a Biochemical Society meeting at which an economical growth medium for the microbiological assay of amino acids in protein was described. Phenylalanine and aromatic amino acids were removed from an acid hydrolysate of protein by filtration through charcoal. Louis knew that an acid hydrolysate of the milk protein, casein, was available from Allen and Hanbury, where he had worked, and could provide the basis for his dietary concept. Louis was unable to persuade paediatricians at GOSH to trial this. More receptive was a German paediatrician, Horst Bickel, visiting from his post in Birmingham, who enquired whether Louis could think of a way to treat PKU. Whilst sceptical of Louis’ idea, Bickel successfully treated a 2-year-old girl with PKU in Birmingham utilizing Louis’ method for producing a liquid food low in phenylalanine content. This was a world first and a lasting legacy.Louis moved to Oxford in 1958 to continue research into PKU. It is less well known that, since his time at GOSH, Louis had been convinced that newborn screening for PKU would improve outcomes by enabling earlier dietary therapy. Urine testing was a simple and non-invasive way and he and Senior Medical Officer in Public Health, Dr Nancy Gibbs, trialled a urine screening programme aimed at detecting all cases of PKU in a cohort of babies in Cardiff, Wales, from 1958 to 1959 – another world first which was partially successful. By 1968, with experience from other trials in other UK countries, it was apparent that urine detection in new-borns was insufficiently reliable and blood analysis became the recommendation with the heel prick test we are now so familiar with.Louis’ published work and presentations had become known internationally. In 1968 Dr William Gibson offered him a post as associate professor at the University of British Columbia (UBC). He was promoted to professor 6 years later in 1974. He published extensively, with over 120 papers to his name, a book on renal tubular dysfunction and contributions to books, conferences and supervision of many research students. He retired in 1984 after a 16-year teaching and research career at UBC.A shy and modest man, he was devoted to his family. His wife Frances died in 1991 and Louis is survived by his only daughter Lesley, grandsons Benjamin and Oliver, two great-grandchildren, Graham and Willow, and his youngest brother, Henry. He was beautifully spoken in a refined, old-fashioned British way with an astonishing memory to the end. Generous to people who criticized him, he quietly stood his ground, recognizing that valid debate is integral to scientific discovery. And – like many another innovative scientist – it is in this way that he triumphed over sceptical adversity to leave a legacy in pioneering the successful treatment of PKU.

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Objective: To determine the frequency of various Inherited Metabolic Diseases (IMDs) in clinically suspected neonates and children in relation to age, gender, and distribution in rural and urban areas.Materials and Methods: A total of 275 symptomatic neonates and children were enrolled for IMDs. A complete medical history, baseline biochemical tests, cerebrospinal fluid analysis, arterial blood gases, anion gap, serum ammonia, lactate, and urinary ketones were assessed. Any significant microbiological cause for the presenting symptom was excluded. For screening of Inborn Metabolic Error simple Heel prick test was done on PerkinElmer 226 filter paper in newborns and infants. Samples were sent to Jordan for analysis. High-performance liquid chromatography combined with tandem mass spectrometry (LC-MS/MS) was the technique used in the screening of a variety of IMDs. The frequency of Inherited Metabolic Diseases and their relation with age, gender, and location was determined using the chi-square goodness of fit test. A p-value ≤ of 0.05 was considered statistically significant. Results: Of the 275 subjects screened, 47(17%) had an inherited metabolic disorder, of which 27 were male and 20 were female with a Male to Female ratio of 1.35:1. The difference in metabolic disorders was significantly different between age (p=0.01) and gender (p=0.04). Of the diagnosed cases G6PD disorder was found to be the most frequent disorder 14 (29.79%) of the total diagnosed cases, followed by Aminoaciduria in 9 (19.15%) and Carnitine Uptake Defect in 7 (14.8). Conclusion: The cases detected to have IMDs revealed a significant prevalence. G6PD was detected as the most frequent disorder. A simple Heel prick test on PerkinElmer 226 filter paper is a useful method to detect IMDs, though confirmation is usually required by other tests.

I won't let cystic fibrosis stop me from living my best life

In the year 2000, at 2 years old, I started showing symptoms of cystic fibrosis (CF); I initially had a heel prick test, but I was not diagnosed with CF until I had a blood test. The day I was diagnosed, my parents decided that I would have all the treatments I needed to keep me well, and they were determined that I would have a normal life and that CF would not define me.

Neonatal blood spot screening

This article describes the neonatal or newborn blood spot screening programme (NBSSP) in the United Kingdom. Babies are screened for nine diseases at 5 days of age by a heel prick test. Although midwifes are the primary health practitioner involved in NBSSP, GPs may be consulted antenatally or postnatally for advice. GPs can aid informed decision making for parents concerned about genetic testing, discuss the implications of positive screening, and provide support for families with confirmed diagnoses. This review of the newborn blood spot test will discuss the programme, its limitations, ethical considerations and the diseases screened.

INCIDÊNCIA HIPOTIREOIDISMO CONGÊNITO EM CRIANÇAS NASCIDAS NOS HOSPITAIS PÚBLICOS DO OESTE PAULISTA

Congenital hypothyroidism is a cause of mental retardation and has nonspecific signs and symptoms. Early diagnosis and treatment are essential for the normal development of children affected by this disorder. The objective of this study was to evaluate theincidence of changes in the screening tests of public hospitals in Presidente Prudente, the average age of the newborn at the time of collection of tests and confirmation of the diagnosis. A retrospective cross-sectional study was carried out to assess the data of newborns who underwent the “heel prick test” by the unified health system in 2017. Of the 3,351 evaluated, 48 had elevated levels of Thyroid Stimulating Hormone(TSH), 13 had the diagnosis confirmed congenital hypothyroidism. It was 61.54% the children that returned between days 16 and 30 to confirm the result and 23.07% that returned after 61 days. Early diagnosis and treatment is essential, as they enable mitigating actions for the serious cognitive and behavioral disorders of affected patients.

INCIDÊNCIA HIPOTIREOIDISMO CONGÊNITO EM CRIANÇAS NASCIDAS NOS HOSPITAIS PÚBLICOS DO OESTE PAULISTA

Congenital hypothyroidism is a cause of mental retardation and has nonspecific signs and symptoms. Early diagnosis and treatment are essential for the normal development of children affected by this disorder. The objective of this study was to evaluate the incidence of changes in the screening tests of public hospitals in Presidente Prudente, the average age of the newborn at the time of collection of tests and confirmation of the diagnosis. A retrospective cross-sectional study was carried out to assess the data of newborns who underwent the “heel prick test” by the unified health system in 2017. Of the 3,351 evaluated, 48 had elevated levels of Thyroid Stimulating Hormone (TSH), 13 had the diagnosis confirmed congenital hypothyroidism. It was 61.54% the children that returned between days 16 and 30 to confirm the result and 23.07% that returned after 61 days. Early diagnosis and treatment is essential, as they enable mitigating actions for the serious cognitive and behavioral disorders of affected patients.

Nascer no Brasil: continuity of care during pregnancy and postpartum period for women and newborns.

ABSTRACTOBJECTIVETo estimate the adequacy of health care during pregnancy and the postpartum period in puerperal women and newborn users of the Unified Health System and verify the factors associated with greater adequacy.METHODSWe used data obtained in the hospital interview, the prenatal card and the first telephone interview of 12,646 women participating in the study Nascer no Brasil (Birth in Brazil), conducted in 2011 and 2012. In the first stage of the analysis, the sociodemographic and obstetric characteristics of women and the estimation of adequacy of prenatal and postpartum care indicators are described. In the second stage, the cascade of care for actions related to puerperal women and their newborns is presented. Finally, maternal factors associated with the adequacy of the line of care are verified by means of multiple logistic regression.RESULTSOnly two of the four prenatal indicators were considered satisfactory: initiation up to the 16th week of pregnancy and adequate number of appointments. The guidance on which maternity to go for delivery, as well as the guidance to perform the puerperal appointment and the performance of the heel prick test have reached partial level of adequacy. The puerperal appointment, the first routine appointment of the newborn and the obtaining of the heel prick test results presented unsatisfactory adequacy. In the joint analysis of indicators regarding the effective use of services, only 1.5% of mothers and their babies received all recommended health care. Multiparous women living in the North, Northeast and Midwest, with lower schooling, presented the lowest chances of continuity of care.CONCLUSIONSThe indicators evaluated indicate that almost all women and their children presented partial and disjointed care, showing that the coordination of care is still a challenge in the health care of women and children in the puerperal pregnancy period.

Diagnostic evaluation of heel prick newborn screening of thyroid stimulating hormone on dissociation-enhanced lanthanide fluorescence immunoassay with the establishment of reference value in Pakistani neonates.

To develop and validate a method on Dissociation Enhanced Lanthanide Fluorescence Immunoassay for neonatal heel prick blood human thyroid stimulating hormone and the establishment of its reference value in the local population. The multi-centre cross-sectional validation study was conducted from September 2016 to September 2018 at Zahra Beau Naqvi Foundation Welfare Trust laboratory, Islamabad, Pakistan, and comprised samples related to newborns aged 1 month or less taken from neonatal units of 39 hospitals based in Punjab, Khyber Pakhtunkhuwa, Gilgit-Baltistan and Azad Jammu and Kashmir. Samples were collected after 24 hours of birth using the heel prick test. The samples were dried and sent to the laboratory for assessment where Dissociation Enhanced Lanthanide Fluorescent Immunoassay was used to estimate thyroid stimulating hormone levels. Data recorded included age, gender, and birth detail, like gestational age, mode of delivery etc. Data was analysed using SPSS 21. Method validation and reference value were manually calculated. Of the 14,147 samples received, 8,207(58%) related to boys and 5,940(42%) to girls. Most samples 4903(34.6%) came from Peshawar. The overall mean age of the newborns was 5.6±4.8 days. Thyroid stimulating hormone data was divided into three groups; positive with median value 27.8±36.6 uIU/ml, negative with median 1.42±1.60 uIU/ml, and borderline with median 11.4±4.12uIU/ml. Prevalence of congenital hypothyroidism in high-risk population in the positive group was 39(0.3%), negative 14,012(99.0%) and borderline 96(0.7%). Reference cut-off was calculated as 7.06uIU/ml for screening of healthy and positive cases of congenital hypothyroidism. Method Validation results showed limit of detection -0.5uU/ml, limit of quantitation LOQ 0.8uU/ml, accuracy 100±5%, precision coefficient of variation at each level of calibrators -4, 8.8, 1.2, 11.3, 7.2 and 4.3% respectively, and linearity from to 0.8uU/ml to 254.1uU/ml. Neonatal human thyroid stimulating hormone by heel prick blood was found to be an affordable and highly sensitive method of screening for congenital hypothyroidism.

Analgesic effect of non-nutritive sucking in term neonates: A randomized controlled trial

Newborns commonly experience pain due to a variety of reasons. Non-nutritive sucking (NNS) is thought to be an effective non-pharmacological method of pain-relief. However, the significant heterogeneity in some systematic reviews limited the certainty of the findings about NNS. Hence, this study was aimed at evaluating the analgesic effect and safety of NNS in healthy term neonates during the heel prick test, using the Neonatal Pain Agitation and Sedation Scale (N-PASS). In this randomized controlled trial, 42 term infants were included: 22 infants in the intervention group (receiving NNS) and 20 infants in the control group (not receiving NNS). In the intervention group, neonates were given a silicone pacifier 120s before, during, and 120s after the heel puncture, while neonates in the control group received routine care. Pain-related outcomes were assessed using the N-PASS at 30s, 60s, 90s, and 120s after the heel prick. Any adverse events during the procedure were noted. The Spearman correlation coefficients between the pain scores on the N-PASS and two other scales (NFCS and NIPS) were calculated at all four moments of evaluation. The mean N-PASS pain scores at 30s, 60s, 90s, and 120s after heel prick were significantly lower in the NNS group than in the control group: 4.73±2.78 vs. 7.90±1.52 (p=0.0002); 3.64±3.06 vs. 5.55±2.95 (p=0.052); 2.59±3.08 vs. 5.25±3.51 (p=0.011); and 2.05±2.94 vs. 4.90±3.99 (p=0.013), respectively. No adverse events were detected in either group. Our findings revealed a strong positive correlation between the pain scores on the N-PASS and two other scales (NFCS and NIPS), which was statistically significant (p<0.01). NNS is considered a safe and effective pain-relief method during the heel prick procedure in term neonates, demonstrated using the N-PASS. These findings were correlated with the pain evaluation by NFCS and NIPS.

Congenital Hypothyroidism in Preterm Newborns: A Retrospective Study Arising from a Screening Program in Fars Province, Southwestern Iran.

ObjectivesThere is a high interest in the early diagnosis of hypothyroidism in preterm newborns for preventing any intellectual disability. Our study sought to determine the incidence of abnormal thyroid-stimulating hormone (TSH) between three and six days old and in weeks two, six, 10, and 12 after birth to evaluate the validity of repeating the test in premature infants.MethodsWe conducted a retrospective review of 320 886 live births in Fars province, Southwestern Iran, from March 2014 to October 2017. TSH levels in premature infants were measured by heel prick test, and the data was collected from the central newborn screening center of Fars province.ResultsThe number of premature newborns was 15 381, and the prevalence of hypothyroidism was 2.3%. Among 355 premature newborns with high TSH, 31.3% was detected in three to six days of life, 43.9% in the second week, 14.4% in the sixth week, 9.9% in the tenth week, and 0.6% in the twelfth week as hypothyroidism.ConclusionsOur results showed that thyroid screening of preterm infants needs retesting in two, six, and 10 weeks after to detect cases in newborns who would not otherwise be identified.

Determining the TSH reference range in national newborn screening program for congenital hypothyroidism

Objective: Since the initiation of the thyroid screening program in Iran in 2005, 5 mIU/L has been selected as the threshold for thyroid stimulating hormone (TSH) for screening for congenital hypothyroidism. Given the specific disease pattern in the region and current controversies of the TSH cutoff point, a new cutoff point has been proposed in this study.Methods: This study was conducted on the existing database of the screening program consisting of 127,112 neonates in Markazi Province, center of Iran, during 2006–2012. Data on 614 referred neonates consisting of 414 neonates diagnosed of having hypothyroidism and 200 screened healthy neonates, were analyzed. The heel prick test had been done on the studied neonates to determine the TSH levels. The receiver-operator characteristic (ROC) curve and diagnostic values were used for data analysis.Results: The 5-mIU/L cutoff point in the study had a sensitivity and specificity and AUC of 86.5, 10 and 47%, respectively. Among the eleven selected cutoff points, 6.5 mIU/L had the appropriate sensitivity, specificity and AUC (58.9, 56.5 and 57%, respectively), negative and positive likelihood ratios (0.73 and 1.35, respectively).Conclusion: Given the very low specificity of the 5-mIU/L cutoff point for referral and with respect to the high rate of referrals and many false positive cases, we suggest to use the 6.5-mIU/L cutoff point which is more suitable.

Heel prick test: maternal-fetal conditions that may have an effect on the test results in newborns admitted to the intensive care unit.

ObjectiveTo describe the characteristics of the heel prick test in newborns admitted to the intensive care unit of a university hospital as well as to determine whether maternal and fetal conditions could have affected the results of this test.MethodsRetrospective longitudinal study with a quantitative approach that evaluated 240 medical records. The data collected were analyzed by descriptive statistical analysis.ResultsThere was a predominance of pregnant women aged 20 to 34 years who had a complete secondary education and who had more than six prenatal care visits. Maternal complications or pathologies occurred in 60% of the mothers, and most (67.5%) did not present any condition that could have affected the heel prick test results. Most newborns were premature and exhibited low birth weight. Approximately 90% of newborns exhibited conditions that could have influenced the test, especially prematurity, parenteral nutrition and blood transfusion. Of the 240 newborns, 25% had abnormal heel prick test results, especially for cystic fibrosis and congenital adrenal hyperplasia.ConclusionThere are maternal and neonatal conditions that can affect heel prick test results, and therefore, their investigation is essential, aiming to guide measures that promote mother and child health and consolidate neonatal screening in this population.

Basic heel prick test: inclusion of screening, diagnosis and criteria for early confirmation of congenital infection by Toxoplasma gondii.

ABSTRACT Toxoplasma gondii can cross the placental barrier, causing fetal infection with potentially severe sequelae. The aim of this study was to evaluate whether the serological screening for toxoplasmosis should be included in the basic neonatal heel prick test in order to establish criteria for the confirmation and/or exclusion of the diagnosis of congenital infection in newborns treated at three public health units in the metropolitan region of Goiania, Goias State, Brazil. Blood samples were collected on filter paper from newborns and later, peripheral blood samples from the mothers and their respective children were obtained to confirm or exclude the diagnosis of suspected congenital infection, by means of an enzyme-linked immunosorbent assay (IgM and IgG) and a polymerase chain reaction assay. From a total of 1,159 blood samples collected on filter paper, 43.92% were reactive to IgG and 0.17% to anti-T. gondii IgM and IgG. One hundred and twenty-seven paired samples (mother and child) were collected following consensual protocols for peripheral blood collection. Results obtained from the filter paper and peripheral blood of the newborns were 90.55% concordant. A comparison of the mother and child blood test results showed agreement regarding the detection of IgG in 90.48% of the samples. The parasite DNA was detected in the peripheral blood of one child. In view of the results obtained in this study, the inclusion of the serological screening for toxoplasmosis in the newborn heel prick test proved to be effective for the early detection of congenital T. gondii infection.

Childhood disorders: Phenylketonuria

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. PKU is looked for in all newborns in the UK by measuring phenylalanine levels in the heel-prick blood test and all babies should have this test as it allows treatment to start early in life. The needs of female patients are of particular importance because of the associated risks of pregnancy in the untreated mother with PKU. This article outlines the diagnosis and management of PKU, and some considerations for parents and women with the condition who are planning to concieve.

Childhood disorders: Cystic fibrosis

Cystic fibrosis (CF) is an inherited condition that causes sticky mucus to build up in the lungs and digestive system, leading to lung infections and problems with digesting food. CF is most commonly picked up in the UK via the newborn screening heel prick test. The onset of symptoms varies from child to child but usually begins in early childhood. The symptoms worsen over time with the lungs and digestive system becoming damaged.

Neonatal TSH levels in Northern Ireland from 2003 to 2014 as a measure of population iodine status.

The re-emergence of iodine deficiency in the UK has recently been reported in a large cohort of teenage girls including from Northern Ireland (NI) using the gold standard spot urinary iodine concentration. We wished to explore and confirm this by analysing neonatal thyroid-stimulating hormone (nTSH) levels in the NI population. We analysed the nTSH heel prick tests results from the NI national screening database between 2003 and 2014. The WHO proposes a definition for population iodine sufficiency at <3% of the population with nTSH results >5mIU/L. Anonymized results from 288491 nTSH tests were retrieved, and prevalence rates of results at increasing cut-offs including >2mIU/L and >5mIU/L calculated. We also assessed for possible seasonal variation in nTSH results. An overall population prevalence of 0.49% with TSH >5mIU/L was found, indicating population iodine sufficiency with no year attaining a prevalence >3%. The prevalence of nTSH >2mIU/L decreased to 4.1% in 2007 and subsequently increased to 9.8% in 2014. Modest seasonal variation was also detected, with higher levels among April/May births. The neonatal TSH database suggests iodine sufficiency in the NI population. However, the rising frequency of results >2mIU/L may indicate an emerging mild iodine deficiency. This is one of the largest and longest studies of its kind in the UK and the first carried out in NI. The summer months may be a time of increased risk of iodine deficiency in our pregnant women whose requirements are increased and who are not currently targeted by any iodine fortification programme in the UK.