Evaluation of neural tube defects from 2014 to 2019 in Turkey.

OBJECTIVE: The aim of this study is to determine the frequency of neural tube defects (NTDs) and to examine the epidemiological characteristics of NTD related deaths in Turkey. METHODS: This nationwide descriptive study was included NTD related infant deaths, termination of pregnancy for fetal anomaly (ToPFA) and stillbirth cases registered in Death Notification System between 2014 and 2019, and patients diagnosed with NTD in the 2018 birth cohort. FINDINGS: In the 2018 birth cohort, there were 3475 cases of NTD at birth (27.5 per 10,000). The fatality rates for live-born babies with NTD in this cohort were 13.5% at first year, and 15.6% at the end of March, 2022. NTDs were associated with 11.7% of ToPFA cases, 2.5% of stillbirths and 2.8% of infant deaths in 2014-2019. NTD related stillbirth rate was 1.74 per 10,000 births, while NTD related ToPFA rate and infant mortality rate were 0.61 and 2.70 per 10,000 live births respectively. NTD-related stillbirth and infant mortality rate were highest in the Eastern region (3.64 per 10,000 births; 4.65 per 10,000 live births respectively), while ToPFA rate was highest in the North and West regions (1.17 and 0.79 per 10,000 live births respectively) (p < 0.05). Prematurity and low birth weight were the variables with the highest NTD related rates for stillbirths (11.26 and 16.80 per 10,000 birth), ToPFA (9.25 and 12.74) per 10,000 live birth), and infant deaths (13.91 and 20.11 per 10,000 live birth) (p < 0.05). CONCLUSION: NTDs are common and have an important place among the mortality causes in Turkey. Primary prevention through mandatory folic acid fortification should be considered both to reduce the frequency of NTD and related mortality rates.

Cystic fibrosis newborn screening: Five-year experience from a tertiary care center.

BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) was implemented in our country on January 1, 2015, based on immunoreactive trypsinogen tests (IRT/IRT). Here, we aimed to evaluate the diagnoses of patients and follow-up process within the first 5 years of NBS from a tertiary care center. METHODS: This retrospective cohort study was conducted on patients who were admitted to our pediatric pulmonology department for sweat test (ST) via NBS. Patients with CF with negative NBS results and those with CF with positive NBS and joined our follow-up were also investigated. Clinical outcome measures were compared between patients with CF with positive and negative NBS. RESULTS: Six hundred sixty infants who were referred for ST via NBS were included. Across the entire study population (n = 683), 11.4% of patients had CF (14.1% of had negative NBS in this CF group). The sensitivity of NBS was found as 84.9% and the positive predictive value (PPV) was 9.4%. The median age at diagnosis was older (p < 0.001), reluctance for feeding and Pseudobartter syndrome (PBS) were significantly higher at presentation in the negative NBS group. There was no statistically significant difference between the groups regarding weight-for-age (p = 0.899) and height-for-age (p = 0.491) in the first 2 years' follow-ups. CONCLUSIONS: Our findings showed the low sensitivity and PPV of NBS; therefore, further studies based on all patients in our country are necessary for new cut-off values. PBS and reluctance for feeding should be alarm symptoms for CF even if the infants had negative NBS. Additionally, later diagnosis of patients who had negative NBS did not affect the nutritional outcomes; we need large-scale prospective studies to optimize nutritional benefits for all infants diagnosed via NBS.

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010.

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.

A community-based iron supplementation program, "Iron-Like Turkey", and the following prevalence of anemia among infants aged 12-23 months.

During the second year of the "Iron-like Turkey" Project, in which all children aged 4-6 months in Turkey receive iron supplementation for 5 months, we aimed to assess the utilization of iron supplementation in the field, as well as the prevalence of anemia in healthy infants aged 12-23 months, while determining a variety of sociodemographic and nutritional factors for anemia in three of the 12 NUTS (Nomenclature of Territorial Units for Statistics) regions (regions with the highest, lowest and middle under-5 malnutrition levels). In a community-based, cross-sectional survey using a multi-staged, weighted, cluster-selected sample, children aged 12-23 months with birthweight ≥2500 g, no chronic illness, no history of blood disease, and from term and singleton pregnancy were enrolled; 1589 children met the criteria. The mean±SD age of children surveyed was 17.8±3.6 months. Of the parents, 72.4% claimed that their physician had recommended iron supplementation, and 68.8% had given supplementation to their children. Overall prevalence of anemia was 7.3%. Multivariate analysis revealed that the frequency of anemia decreased significantly in older infants, when supplementation was recommended by health providers, when an infant was breastfed longer than 6 months, and when the mother received iron supplementation during pregnancy. However, anemia prevalence increased when the infant received iron supplementation at a later age (³9 months), lived in a crowded family (³6 persons), and when the mother had a history of iron deficiency anemia. Anemic infants had significantly lower z scores of weight for age than non-anemic ones. This survey suggests that iron supplementation during pregnancy, initiation of iron supplementation in infants at 4-6 months of age, effective counseling on supplementation, subsequent compliance, support of breastfeeding, and effective training of health care personnel are effective strategies for prevention of anemia in the community.