Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.

Moderate to severe ID still exists in 27.8% of the Turkish population, which is much better compared to 1997 and 2002 surveys (i.e. 58%, 38.9%, respectively). The follow-up monitoring study (in 2007) demonstrated that ID has been eliminated in 20 of 30 cities surveyed, and median UIC was 130 microg/l. ID has been eliminated in most of the urban population, however, it is still an important problem in rural areas and in particular geographical regions, which should be the target of future programs.

National newborn screening program appears to be conducted successfully and extensively as a result of political determination and performance of health care workers who are in charge of this program. Nevertheless, limited numbers of the nutrition and metabolism clinics and specialists on these branches have caused some access difficulties, waste of time, and financial loss. Therefore, special planning to improve quality and the number of the clinics would be useful.

Objective:Thyroid-stimulating hormone (TSH) level in neonates is recommended as an indicator for presence of iodine deficiency (ID) at a population level and as a monitoring tool in programs of iodine supplementation. The purpose of this study, based on data from the National Newborn Screening Program (NNSP) for congenital hypothyroidism (CH) in 2014, was to analyze neonatal TSH levels to predict the current status of iodine nutrition in Turkey.Methods:According to screening methodology, heel-prick blood samples of newborns were collected on filter paper cards usually on day 3-5 after birth (or shortly before discharge). Results of samples collected >48 h after birth were analyzed. The degree of severity of ID was assessed by using the epidemiologic criteria of the World Health Organization (WHO). Elevated TSH levels (>5 mIU/L) were processed and classified according to province, region, birth season, and sampling time.Results:A total of 1,298531 newborns were registered in the NNSP for the CH database. Of those, 1,270311 newborns had screening results collected >48 h after birth and were included in the statistical analyses. The national prevalence of elevated TSH was 7.2%. While the Gaziantep sub-region had the highest TSH elevation rate (15.9%), the Tekirdağ sub-region had the lowest rate (4.0%; p<0.001). Seasonal variations were also significant, and the elevated TSH prevalence rate was highest in winter (7.4%; p<0.001).Conclusion:National CH screening results suggest that Turkey may still be mildly iodine deficient. Nationwide studies should be performed for direct assessment and monitoring of iodine status in vulnerable populations to confirm accuracy of our results.

Our aim was to assess trends in neonatal mortality in 2009, evaluate advances in health policy, determine new goals to preserve a higher quality health service, and to prevent neonatal deaths. Data were gathered from the system of the General Directorate of Mother and Child and Family Planning. Maternal age, birth weight, gestational week, delivery at a health center, delivery by trained assistant, antenatal visits, and cause of death were evaluated. The neonatal mortality rate was 10/1,000 in Turkey in 2009, significantly better than rates of 26 in 1998, 17 in 2003, and 13 in 2008. The percentage of pregnant women making a minimum of four antenatal visits was around 80 %. Most deaths were attributable to prematurity and its complications, including 47.2 % of early neonatal mortality (ENM) and 36.1 % of late neonatal mortality (LNM). In ENM, the next-most common causes of death were congenital anomalies other than heart and genetic disorders (17.5 %), infections (6.5 %), asphyxia (6.1 %), and congenital heart disease (4.0 %), whereas in LNM, they were infections (19.9 %), congenital anomalies other than heart and genetic disorders (13.1 %), congenital heart disease (7.7 %), and asphyxia (3.8 %). Neonatal mortality in Turkey has declined within 8 years to level similar to that reached by Organisation for Economic Co-operation and Development countries over 30 years. Our findings show that each of the major causes of the neonatal death can be prevented by available interventions. Interventions to prevent prematurity, early diagnosis of congenital anomalies, and the prevention of infections would contribute to further reductions in neonatal mortality in Turkey.

Objective: Congenital adrenal hyperplasia (CAH) is the most common form of primary adrenal insufficiency in children. Neonatal screening for CAH is effective in detecting the salt-wasting (SW) form and in reducing mortality. In this study, our aim was to estimate the incidence of CAH in Turkey and to assess the characteristics and efficacy of the adopted newborn CAH screening strategy. Methods: A pilot newborn CAH screening study was carried out under the authority of the Turkish Directorate of Public Health. Newborn babies of ≥32 gestational weeks and ≥1500 gr birth weight from four cities, born between March 27-September 15, 2017 were included in the study. Screening protocol included one sample two-tier testing. In the first step, 17α-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. The cases with positive initial screening were tested by steroid profiling in DBS using a liquid chromatography-tandem mass spectrometry method to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione as a second-tier test. The babies with a steroid ratio (21-S+17-OHP)/F of ≥0.5 were referred to pediatric endocrinology clinics for diagnostic assessment. Results: 38,935 infants were tested, 2265 (5.82%) required second-tier testing and 212 (0.54%) were referred for clinical assessment, six of whom were diagnosed with CAH (four males, two females). Four cases were identified as SW 21-hydroxylase deficiency (21-OHD) (two males, two females). One male baby had simple virilizing 21-OHD and one male baby had 11-OHD CAH. The incidence of classical 21-OHD in the screened population was 1:7,787. Conclusion: The incidence of CAH due to classical 21-OHD is higher in Turkey compared to previous reports. We, therefore, suggest that CAH be added to the newborn screening panel in Turkey. The use of steroid profiling as a second-tier test was found to improve the efficacy of the screening and reduce the number of false-positives.

SUMMARYBackground: Infant mortality rate (IMR) and neonatal mortality rate (NMR) are accepted as good indicators to measure the health status of a nation. This report describes recent declines in IMR and NMR in Turkey.Methods: Data on infants who died before 12 months of life were obtained from the Infant Mortality Monitoring System of Ministry of Health of Turkey between 2007 and 2012. A total of 94,038 infant deaths were evaluated.Results: Turkey IMR and NMR exhibited a marked decline from 2007 (16.4 and 12.2) to 2010 (10.1 and 6.6) and then plateaued in 2012 (9.7 and 6.3), despite regional differences. Prematurity, congenital anomalies and congenital heart diseases (CHD) were the three most common causes of infant deaths between 2007 and 2012. While the rates of respiratory distress syndrome (RDS), sudden infant death syndrome (SIDS), and metabolic diseases increased, the rates of congenital anomalies and birth injuries decreased. IMR and NMR significantly increased with the number of infants per paediatrician, per doctor, and per midwife, while was decreasing with the increased rate of hospital birth, caesarean delivery, antenatal care, infant follow-up, and staff trained within the Neonatal Resuscitation Programme (NRP).Conclusion: From 2007-2012, Turkey showed remarkable encouraging advances in reducing IMR and NMR. Any interventions aimed at further reductions in IMR and NMR should target the common causes of death and defined risk factors especially in socioeconomically disadvantaged regions.

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